Incidental Mutation 'IGL01760:Wsb1'
ID153249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wsb1
Ensembl Gene ENSMUSG00000017677
Gene NameWD repeat and SOCS box-containing 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.419) question?
Stock #IGL01760
Quality Score
Status
Chromosome11
Chromosomal Location79239372-79254671 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79242041 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 276 (Y276C)
Ref Sequence ENSEMBL: ENSMUSP00000017821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017821] [ENSMUST00000131848] [ENSMUST00000145772]
Predicted Effect probably damaging
Transcript: ENSMUST00000017821
AA Change: Y276C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017821
Gene: ENSMUSG00000017677
AA Change: Y276C

DomainStartEndE-ValueType
Blast:WD40 25 62 2e-16 BLAST
WD40 117 156 8.4e-2 SMART
WD40 159 199 2.5e-10 SMART
WD40 203 242 5.9e-10 SMART
WD40 245 284 2.9e-11 SMART
WD40 300 339 1.2e-5 SMART
WD40 342 379 1.1e-4 SMART
SOCS 378 420 2.7e-18 SMART
SOCS_box 384 420 4.1e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131818
SMART Domains Protein: ENSMUSP00000131290
Gene: ENSMUSG00000017677

DomainStartEndE-ValueType
WD40 48 87 1.33e1 SMART
WD40 90 130 3.72e-8 SMART
WD40 134 172 4.18e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131848
SMART Domains Protein: ENSMUSP00000128181
Gene: ENSMUSG00000017677

DomainStartEndE-ValueType
Blast:WD40 25 62 2e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137890
Predicted Effect probably benign
Transcript: ENSMUST00000145772
SMART Domains Protein: ENSMUSP00000137999
Gene: ENSMUSG00000017677

DomainStartEndE-ValueType
Blast:WD40 25 62 3e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153585
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T A 8: 83,731,957 T147S probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Chst3 A T 10: 60,186,470 V185D probably damaging Het
Col14a1 A C 15: 55,423,459 D892A unknown Het
Dopey1 A G 9: 86,519,923 T1059A probably benign Het
Erlec1 A C 11: 30,934,731 S441A probably benign Het
Frmd4b G T 6: 97,308,702 T289N probably damaging Het
Gm2016 A T 12: 87,877,021 probably benign Het
Gm6133 G A 18: 78,350,175 R128Q probably benign Het
Gnai2 A G 9: 107,616,518 S155P probably damaging Het
Hspg2 T C 4: 137,512,671 S517P possibly damaging Het
Ighv9-1 C A 12: 114,094,194 E29* probably null Het
Lrp1 T C 10: 127,573,501 K1583R probably benign Het
Ltbp1 C T 17: 75,227,150 T211M probably damaging Het
Mttp A G 3: 138,111,736 S418P probably benign Het
Napa A G 7: 16,098,744 N23S possibly damaging Het
Odf2 C A 2: 29,914,460 Q347K probably damaging Het
Ogdhl A G 14: 32,339,937 D504G probably damaging Het
Olfr433 T C 1: 174,042,625 L225P probably damaging Het
Pdxdc1 A T 16: 13,859,152 N273K probably damaging Het
Rslcan18 T C 13: 67,113,951 I11V probably benign Het
Spidr G T 16: 15,912,560 R664S possibly damaging Het
Tead3 T C 17: 28,333,081 N385S probably benign Het
Trim13 T A 14: 61,605,723 N396K probably benign Het
Trp53bp2 C T 1: 182,448,428 A160V possibly damaging Het
Vmn2r69 A G 7: 85,406,864 S689P possibly damaging Het
Vmn2r79 A T 7: 87,002,158 Q255L probably benign Het
Zfp236 G T 18: 82,621,422 N1233K probably damaging Het
Other mutations in Wsb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02352:Wsb1 APN 11 79251012 missense probably damaging 1.00
IGL02359:Wsb1 APN 11 79251012 missense probably damaging 1.00
IGL03218:Wsb1 APN 11 79248498 missense probably damaging 0.97
R0488:Wsb1 UTSW 11 79244500 missense probably damaging 1.00
R1051:Wsb1 UTSW 11 79246233 missense probably damaging 1.00
R1612:Wsb1 UTSW 11 79248585 missense probably benign 0.31
R2202:Wsb1 UTSW 11 79240386 missense probably benign
R2449:Wsb1 UTSW 11 79240352 missense probably benign
R4782:Wsb1 UTSW 11 79240373 missense probably benign 0.44
R4805:Wsb1 UTSW 11 79240391 missense possibly damaging 0.95
R4932:Wsb1 UTSW 11 79251000 missense probably damaging 0.96
R5458:Wsb1 UTSW 11 79248436 missense probably damaging 1.00
R6032:Wsb1 UTSW 11 79240199 unclassified probably benign
R6032:Wsb1 UTSW 11 79240199 unclassified probably benign
R6140:Wsb1 UTSW 11 79241618 missense probably damaging 0.98
R6192:Wsb1 UTSW 11 79248510 missense possibly damaging 0.94
R6498:Wsb1 UTSW 11 79248489 missense probably damaging 1.00
R6545:Wsb1 UTSW 11 79251055 missense probably damaging 1.00
R6608:Wsb1 UTSW 11 79240362 missense probably benign 0.30
R7142:Wsb1 UTSW 11 79250988 missense probably benign 0.01
R7339:Wsb1 UTSW 11 79240358 missense probably damaging 0.97
R7361:Wsb1 UTSW 11 79240797 critical splice acceptor site probably null
R8338:Wsb1 UTSW 11 79246277 missense probably damaging 1.00
Posted On2014-02-04