Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000262424
Querying Taster for transcript #2: ENST00000567845
Querying Taster for transcript #3: ENST00000564567
MT speed 3.69 s - this script 5.329936 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CRISPLD2polymorphism_automatic0.996909293195486simple_aaeaffectedT322Ssingle base exchangers721005show file
CRISPLD2polymorphism_automatic0.996909293195486simple_aaeaffectedT321Ssingle base exchangers721005show file
CRISPLD2polymorphism_automatic0.996909293195486simple_aaeaffectedT322Ssingle base exchangers721005show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00309070680451436 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:84906098C>GN/A show variant in all transcripts   IGV
HGNC symbol CRISPLD2
Ensembl transcript ID ENST00000262424
Genbank transcript ID NM_031476
UniProt peptide Q9H0B8
alteration type single base exchange
alteration region CDS
DNA changes c.965C>G
cDNA.1189C>G
g.52509C>G
AA changes T322S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
322
frameshift no
known variant Reference ID: rs721005
databasehomozygous (G/G)heterozygousallele carriers
1000G62311831806
ExAC107271131322040
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6220.583
3.0480.838
(flanking)-0.1730.839
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained525030.97mu: GATCTTTGGAAGTCT TCTT|tgga
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      322GCLNHKAKIFGTLFYESSSSICRA
mutated  all conserved    322GCLNHKAKIFGSLFYESSSSICR
Ptroglodytes  all identical  ENSPTRG00000008422  322GCLNHKAKIFGTLFYESSSSICR
Mmulatta  all identical  ENSMMUG00000011245  321GCLNHKAKIFGTLFYESSSSICR
Fcatus  all identical  ENSFCAG00000010832  321GCLSSKAQVFGTLFYESSSSICR
Mmusculus  all conserved  ENSMUSG00000031825  320GCLSNKAKVFGSLFYESSSSICR
Ggallus  all identical  ENSGALG00000005692  328GCLYSKGKIFGTFYYESSSSICR
Trubripes  all identical  ENSTRUG00000017624  335NCINKKGKVWGTLFYDVQSSICR
Drerio  all identical  ENSDARG00000088595  339NCLNKQGKVWGTLYYDVQSSICR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000013394  325GCINSKAKVFGTLFYDSMSSICR
protein features
start (aa)end (aa)featuredetails 
284379DOMAINLCCL 1.lost
332332DISULFIDBy similarity.might get lost (downstream of altered splice site)
385488DOMAINLCCL 2.might get lost (downstream of altered splice site)
391391DISULFIDBy similarity.might get lost (downstream of altered splice site)
413413DISULFIDBy similarity.might get lost (downstream of altered splice site)
417417DISULFIDBy similarity.might get lost (downstream of altered splice site)
440440DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1494 / 1494
position (AA) of stopcodon in wt / mu AA sequence 498 / 498
position of stopcodon in wt / mu cDNA 1718 / 1718
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 225 / 225
chromosome 16
strand 1
last intron/exon boundary 1664
theoretical NMD boundary in CDS 1389
length of CDS 1494
coding sequence (CDS) position 965
cDNA position
(for ins/del: last normal base / first normal base)
1189
gDNA position
(for ins/del: last normal base / first normal base)
52509
chromosomal position
(for ins/del: last normal base / first normal base)
84906098
original gDNA sequence snippet CAAGGCGAAGATCTTTGGAACTCTGTTCTATGAAAGCGTGA
altered gDNA sequence snippet CAAGGCGAAGATCTTTGGAAGTCTGTTCTATGAAAGCGTGA
original cDNA sequence snippet CAAGGCGAAGATCTTTGGAACTCTGTTCTATGAAAGCTCGT
altered cDNA sequence snippet CAAGGCGAAGATCTTTGGAAGTCTGTTCTATGAAAGCTCGT
wildtype AA sequence MSCVLGGVIP LGLLFLVCGS QGYLLPNVTL LEELLSKYQH NESHSRVRRA IPREDKEEIL
MLHNKLRGQV QPQASNMEYM TWDDELEKSA AAWASQCIWE HGPTSLLVSI GQNLGAHWGR
YRSPGFHVQS WYDEVKDYTY PYPSECNPWC PERCSGPMCT HYTQIVWATT NKIGCAVNTC
RKMTVWGEVW ENAVYFVCNY SPKGNWIGEA PYKNGRPCSE CPPSYGGSCR NNLCYREETY
TPKPETDEMN EVETAPIPEE NHVWLQPRVM RPTKPKKTSA VNYMTQVVRC DTKMKDRCKG
STCNRYQCPA GCLNHKAKIF GTLFYESSSS ICRAAIHYGI LDDKGGLVDI TRNGKVPFFV
KSERHGVQSL SKYKPSSSFM VSKVKVQDLD CYTTVAQLCP FEKPATHCPR IHCPAHCKDE
PSYWAPVFGT NIYADTSSIC KTAVHAGVIS NESGGDVDVM PVDKKKTYVG SLRNGVQSES
LGTPRDGKAF RIFAVRQ*
mutated AA sequence MSCVLGGVIP LGLLFLVCGS QGYLLPNVTL LEELLSKYQH NESHSRVRRA IPREDKEEIL
MLHNKLRGQV QPQASNMEYM TWDDELEKSA AAWASQCIWE HGPTSLLVSI GQNLGAHWGR
YRSPGFHVQS WYDEVKDYTY PYPSECNPWC PERCSGPMCT HYTQIVWATT NKIGCAVNTC
RKMTVWGEVW ENAVYFVCNY SPKGNWIGEA PYKNGRPCSE CPPSYGGSCR NNLCYREETY
TPKPETDEMN EVETAPIPEE NHVWLQPRVM RPTKPKKTSA VNYMTQVVRC DTKMKDRCKG
STCNRYQCPA GCLNHKAKIF GSLFYESSSS ICRAAIHYGI LDDKGGLVDI TRNGKVPFFV
KSERHGVQSL SKYKPSSSFM VSKVKVQDLD CYTTVAQLCP FEKPATHCPR IHCPAHCKDE
PSYWAPVFGT NIYADTSSIC KTAVHAGVIS NESGGDVDVM PVDKKKTYVG SLRNGVQSES
LGTPRDGKAF RIFAVRQ*
speed 1.46 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00309070680451436 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:84906098C>GN/A show variant in all transcripts   IGV
HGNC symbol CRISPLD2
Ensembl transcript ID ENST00000567845
Genbank transcript ID N/A
UniProt peptide Q9H0B8
alteration type single base exchange
alteration region CDS
DNA changes c.962C>G
cDNA.1179C>G
g.52509C>G
AA changes T321S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
321
frameshift no
known variant Reference ID: rs721005
databasehomozygous (G/G)heterozygousallele carriers
1000G62311831806
ExAC107271131322040
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6220.583
3.0480.838
(flanking)-0.1730.839
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained525030.97mu: GATCTTTGGAAGTCT TCTT|tgga
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      321GCLNHKAKIFGTLFYESSSSICRA
mutated  all conserved    321GCLNHKAKIFGSLFYESSSSICR
Ptroglodytes  all identical  ENSPTRG00000008422  322GCLNHKAKIFGTLFYESSSSICR
Mmulatta  all identical  ENSMMUG00000011245  321GCLNHKAKIFGTLFYESSSSICR
Fcatus  all identical  ENSFCAG00000010832  321GCLSSKAQVFGTLFYESSSSICR
Mmusculus  all conserved  ENSMUSG00000031825  320GCLSNKAKVFGSLFYESSSSICR
Ggallus  all identical  ENSGALG00000005692  328GCLYSKGKIFGTFYYESSSSICR
Trubripes  all identical  ENSTRUG00000017624  335NCINKKGKVWGTLFYDVQSSICR
Drerio  all identical  ENSDARG00000088595  339NCLNKQGKVWGTLYYDVQSSICR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000013394  325GCINSKAKVFGTLFYDSMSSICR
protein features
start (aa)end (aa)featuredetails 
284379DOMAINLCCL 1.lost
332332DISULFIDBy similarity.might get lost (downstream of altered splice site)
385488DOMAINLCCL 2.might get lost (downstream of altered splice site)
391391DISULFIDBy similarity.might get lost (downstream of altered splice site)
413413DISULFIDBy similarity.might get lost (downstream of altered splice site)
417417DISULFIDBy similarity.might get lost (downstream of altered splice site)
440440DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1491 / 1491
position (AA) of stopcodon in wt / mu AA sequence 497 / 497
position of stopcodon in wt / mu cDNA 1708 / 1708
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 218 / 218
chromosome 16
strand 1
last intron/exon boundary 1654
theoretical NMD boundary in CDS 1386
length of CDS 1491
coding sequence (CDS) position 962
cDNA position
(for ins/del: last normal base / first normal base)
1179
gDNA position
(for ins/del: last normal base / first normal base)
52509
chromosomal position
(for ins/del: last normal base / first normal base)
84906098
original gDNA sequence snippet CAAGGCGAAGATCTTTGGAACTCTGTTCTATGAAAGCGTGA
altered gDNA sequence snippet CAAGGCGAAGATCTTTGGAAGTCTGTTCTATGAAAGCGTGA
original cDNA sequence snippet CAAGGCGAAGATCTTTGGAACTCTGTTCTATGAAAGCTCGT
altered cDNA sequence snippet CAAGGCGAAGATCTTTGGAAGTCTGTTCTATGAAAGCTCGT
wildtype AA sequence MSCVLGGVIP LGLLFLVCGS QGYLLPNVTL LEELLSKYQH NESHSRVRRA IPREDKEEIL
MLHNKLRGQV QPQASNMEYM TWDDELEKSA AAWASQCIWE HGPTSLLVSI GQNLGAHWGR
YRSPGFHVQS WYDEVKDYTY PYPSECNPWC PERCSGPMCT HYTQIVWATT NKIGCAVNTC
RKMTVWGEVW ENAVYFVCNY SPKGNWIGEA PYKNGRPCSE CPPSYGGSCR NNLCYRETYT
PKPETDEMNE VETAPIPEEN HVWLQPRVMR PTKPKKTSAV NYMTQVVRCD TKMKDRCKGS
TCNRYQCPAG CLNHKAKIFG TLFYESSSSI CRAAIHYGIL DDKGGLVDIT RNGKVPFFVK
SERHGVQSLS KYKPSSSFMV SKVKVQDLDC YTTVAQLCPF EKPATHCPRI HCPAHCKDEP
SYWAPVFGTN IYADTSSICK TAVHAGVISN ESGGDVDVMP VDKKKTYVGS LRNGVQSESL
GTPRDGKAFR IFAVRQ*
mutated AA sequence MSCVLGGVIP LGLLFLVCGS QGYLLPNVTL LEELLSKYQH NESHSRVRRA IPREDKEEIL
MLHNKLRGQV QPQASNMEYM TWDDELEKSA AAWASQCIWE HGPTSLLVSI GQNLGAHWGR
YRSPGFHVQS WYDEVKDYTY PYPSECNPWC PERCSGPMCT HYTQIVWATT NKIGCAVNTC
RKMTVWGEVW ENAVYFVCNY SPKGNWIGEA PYKNGRPCSE CPPSYGGSCR NNLCYRETYT
PKPETDEMNE VETAPIPEEN HVWLQPRVMR PTKPKKTSAV NYMTQVVRCD TKMKDRCKGS
TCNRYQCPAG CLNHKAKIFG SLFYESSSSI CRAAIHYGIL DDKGGLVDIT RNGKVPFFVK
SERHGVQSLS KYKPSSSFMV SKVKVQDLDC YTTVAQLCPF EKPATHCPRI HCPAHCKDEP
SYWAPVFGTN IYADTSSICK TAVHAGVISN ESGGDVDVMP VDKKKTYVGS LRNGVQSESL
GTPRDGKAFR IFAVRQ*
speed 1.09 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00309070680451436 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:84906098C>GN/A show variant in all transcripts   IGV
HGNC symbol CRISPLD2
Ensembl transcript ID ENST00000564567
Genbank transcript ID N/A
UniProt peptide Q9H0B8
alteration type single base exchange
alteration region CDS
DNA changes c.965C>G
cDNA.1170C>G
g.52509C>G
AA changes T322S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
322
frameshift no
known variant Reference ID: rs721005
databasehomozygous (G/G)heterozygousallele carriers
1000G62311831806
ExAC107271131322040
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6220.583
3.0480.838
(flanking)-0.1730.839
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained525030.97mu: GATCTTTGGAAGTCT TCTT|tgga
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      322GCLNHKAKIFGTLFYESSSSICRA
mutated  all conserved    322GCLNHKAKIFGSLFYESSSSICR
Ptroglodytes  all identical  ENSPTRG00000008422  322GCLNHKAKIFGTLFYESSSSICR
Mmulatta  all identical  ENSMMUG00000011245  321GCLNHKAKIFGTLFYESSSSICR
Fcatus  all identical  ENSFCAG00000010832  321GCLSSKAQVFGTLFYESSSSICR
Mmusculus  all conserved  ENSMUSG00000031825  320GCLSNKAKVFGSLFYESSSSICR
Ggallus  all identical  ENSGALG00000005692  328GCLYSKGKIFGTFYYESSSSICR
Trubripes  all identical  ENSTRUG00000017624  335NCINKKGKVWGTLFYDVQSSICR
Drerio  all identical  ENSDARG00000088595  339NCLNKQGKVWGTLYYDVQSSICR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000013394  325GCINSKAKVFGTLFYDSMSSICR
protein features
start (aa)end (aa)featuredetails 
284379DOMAINLCCL 1.lost
332332DISULFIDBy similarity.might get lost (downstream of altered splice site)
385488DOMAINLCCL 2.might get lost (downstream of altered splice site)
391391DISULFIDBy similarity.might get lost (downstream of altered splice site)
413413DISULFIDBy similarity.might get lost (downstream of altered splice site)
417417DISULFIDBy similarity.might get lost (downstream of altered splice site)
440440DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1350 / 1350
position (AA) of stopcodon in wt / mu AA sequence 450 / 450
position of stopcodon in wt / mu cDNA 1555 / 1555
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 206 / 206
chromosome 16
strand 1
last intron/exon boundary 1435
theoretical NMD boundary in CDS 1179
length of CDS 1350
coding sequence (CDS) position 965
cDNA position
(for ins/del: last normal base / first normal base)
1170
gDNA position
(for ins/del: last normal base / first normal base)
52509
chromosomal position
(for ins/del: last normal base / first normal base)
84906098
original gDNA sequence snippet CAAGGCGAAGATCTTTGGAACTCTGTTCTATGAAAGCGTGA
altered gDNA sequence snippet CAAGGCGAAGATCTTTGGAAGTCTGTTCTATGAAAGCGTGA
original cDNA sequence snippet CAAGGCGAAGATCTTTGGAACTCTGTTCTATGAAAGCTCGT
altered cDNA sequence snippet CAAGGCGAAGATCTTTGGAAGTCTGTTCTATGAAAGCTCGT
wildtype AA sequence MSCVLGGVIP LGLLFLVCGS QGYLLPNVTL LEELLSKYQH NESHSRVRRA IPREDKEEIL
MLHNKLRGQV QPQASNMEYM TWDDELEKSA AAWASQCIWE HGPTSLLVSI GQNLGAHWGR
YRSPGFHVQS WYDEVKDYTY PYPSECNPWC PERCSGPMCT HYTQIVWATT NKIGCAVNTC
RKMTVWGEVW ENAVYFVCNY SPKGNWIGEA PYKNGRPCSE CPPSYGGSCR NNLCYREETY
TPKPETDEMN EVETAPIPEE NHVWLQPRVM RPTKPKKTSA VNYMTQVVRC DTKMKDRCKG
STCNRYQCPA GCLNHKAKIF GTLFYESSSS ICRAAIHYGI LDDKGGLVDI TRNGKVPFFV
KSERHGVQSL SKYKPSSSFM VSKVKVQDLD CYTTVAQLCP FEKPATHCPR IHCPAHCKDE
PSYWAPVFGT NIYADVSRMH FQQLSRKAC*
mutated AA sequence MSCVLGGVIP LGLLFLVCGS QGYLLPNVTL LEELLSKYQH NESHSRVRRA IPREDKEEIL
MLHNKLRGQV QPQASNMEYM TWDDELEKSA AAWASQCIWE HGPTSLLVSI GQNLGAHWGR
YRSPGFHVQS WYDEVKDYTY PYPSECNPWC PERCSGPMCT HYTQIVWATT NKIGCAVNTC
RKMTVWGEVW ENAVYFVCNY SPKGNWIGEA PYKNGRPCSE CPPSYGGSCR NNLCYREETY
TPKPETDEMN EVETAPIPEE NHVWLQPRVM RPTKPKKTSA VNYMTQVVRC DTKMKDRCKG
STCNRYQCPA GCLNHKAKIF GSLFYESSSS ICRAAIHYGI LDDKGGLVDI TRNGKVPFFV
KSERHGVQSL SKYKPSSSFM VSKVKVQDLD CYTTVAQLCP FEKPATHCPR IHCPAHCKDE
PSYWAPVFGT NIYADVSRMH FQQLSRKAC*
speed 1.14 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems