Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999993461761269 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:179280379T>CN/A show variant in all transcripts   IGV
HGNC symbol MRNIP
Ensembl transcript ID ENST00000376931
Genbank transcript ID NM_001017987
UniProt peptide Q6NTE8
alteration type single base exchange
alteration region CDS
DNA changes c.125A>G
cDNA.137A>G
g.8795A>G
AA changes Q42R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 42
frameshift no
known variant Reference ID: rs1650893
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC25523-182797244
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1111
0.2840.982
(flanking)0.9060.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost8796sequence motif lost- wt: GCAG|gtga
 mu: GCGG.gtga
Acc marginally increased8800wt: 0.9383 / mu: 0.9397 (marginal change - not scored)wt: AGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAAAGCA
mu: AGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAAAGCA		 gtga|GTCC
Acc marginally decreased8796wt: 0.8480 / mu: 0.8448 (marginal change - not scored)wt: GAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAA
mu: GAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAA		 gcag|GTGA
Acc increased8794wt: 0.22 / mu: 0.49wt: GAGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAG
mu: GAGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAG		 ttgc|AGGT
Donor marginally increased8795wt: 0.9897 / mu: 0.9913 (marginal change - not scored)wt: TTTGCAGGTGAGTCC
mu: TTTGCGGGTGAGTCC		 TGCA|ggtg
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      42CKACGEKQSFLQEKSQPSESRWLK
mutated  all conserved    42CKACGEKQSFLREKSQPSESRWL
Ptroglodytes  not conserved  ENSPTRG00000017627  63LLQGQVSELPLRSLEETVSASEEENVGHQQAGNVKQQEKSQPSESRWL
Mmulatta  all conserved  ENSMMUG00000021056  42CKACGEKQSFLR
Fcatus  all conserved  ENSFCAG00000014705  61XXXXXXXXXXXXSLEEPVNIDEEDNAEPQQAEHVSSQEKPQSSENRWL
Mmusculus  all identical  ENSMUSG00000020381  63LLQGQVSELSLRSVEEAVNGSEEENAGPLQAEAGSQQAPSKPLESRWL
Ggallus  all conserved  ENSGALG00000005890  40CSVCGQRQALQKVYGQGS
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074071  40CKVCGEKQSLIKEFGRGAAADCR
Dmelanogaster  all conserved  FBgn0262987  40CKICRQKQSLLKEFFRGSAAECR-V
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 867 / 867
position (AA) of stopcodon in wt / mu AA sequence 289 / 289
position of stopcodon in wt / mu cDNA 879 / 879
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 13 / 13
chromosome 5
strand -1
last intron/exon boundary 385
theoretical NMD boundary in CDS 322
length of CDS 867
coding sequence (CDS) position 125
cDNA position
(for ins/del: last normal base / first normal base)		 137
gDNA position
(for ins/del: last normal base / first normal base)		 8795
chromosomal position
(for ins/del: last normal base / first normal base)		 179280379
original gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGA
altered gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGA
original cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGAAAAATCGCAGCCCTCAG
altered cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGAAAAATCGCAGCCCTCAG
wildtype AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LQEKSQPSES RWLKYLEKDS
QELELEGTGV CFSKQPSSKM EEPGPRFSQD LPRKRKWSRS TVQPPCSRGV QDSGGSEVAW
GPQKGQAGLT WKVKQGSSPC LQENSADCSA GELRGPGKEL WSPIQQVTAT SSKWAQFVLP
PRKSSHVDSE QPRSLQRDPR PAGPAQAKQG TPRAQASREG LSRPTAAVQL PRATHPVTSG
SERPCGKTSW DARTPWAEGG PLVLEAQNPR PTRLCDLFIT GEDFDDDV*
mutated AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LREKSQPSES RWLKYLEKDS
QELELEGTGV CFSKQPSSKM EEPGPRFSQD LPRKRKWSRS TVQPPCSRGV QDSGGSEVAW
GPQKGQAGLT WKVKQGSSPC LQENSADCSA GELRGPGKEL WSPIQQVTAT SSKWAQFVLP
PRKSSHVDSE QPRSLQRDPR PAGPAQAKQG TPRAQASREG LSRPTAAVQL PRATHPVTSG
SERPCGKTSW DARTPWAEGG PLVLEAQNPR PTRLCDLFIT GEDFDDDV*
speed 0.90 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