Incidental Mutation 'IGL01760:Wsb1'
ID 153249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wsb1
Ensembl Gene ENSMUSG00000017677
Gene Name WD repeat and SOCS box-containing 1
Synonyms 2700038M07Rik, 1110056B13Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # IGL01760
Quality Score
Status
Chromosome 11
Chromosomal Location 79130198-79145497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79132867 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O54927
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: 84,458,586 (GRCm39) T147S probably benign Het
Chst3 A T 10: 60,022,292 (GRCm39) V185D probably damaging Het
Col14a1 A C 15: 55,286,855 (GRCm39) D892A unknown Het
Dop1a A G 9: 86,401,976 (GRCm39) T1059A probably benign Het
Eif1ad3 A T 12: 87,843,791 (GRCm39) probably benign Het
Erlec1 A C 11: 30,884,731 (GRCm39) S441A probably benign Het
Frmd4b G T 6: 97,285,663 (GRCm39) T289N probably damaging Het
Gm6133 G A 18: 78,393,390 (GRCm39) R128Q probably benign Het
Gnai2 A G 9: 107,493,717 (GRCm39) S155P probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Hspg2 T C 4: 137,239,982 (GRCm39) S517P possibly damaging Het
Ighv9-1 C A 12: 114,057,814 (GRCm39) E29* probably null Het
Lrp1 T C 10: 127,409,370 (GRCm39) K1583R probably benign Het
Ltbp1 C T 17: 75,534,145 (GRCm39) T211M probably damaging Het
Mttp A G 3: 137,817,497 (GRCm39) S418P probably benign Het
Napa A G 7: 15,832,669 (GRCm39) N23S possibly damaging Het
Odf2 C A 2: 29,804,472 (GRCm39) Q347K probably damaging Het
Ogdhl A G 14: 32,061,894 (GRCm39) D504G probably damaging Het
Or10aa1 T C 1: 173,870,191 (GRCm39) L225P probably damaging Het
Pdxdc1 A T 16: 13,677,016 (GRCm39) N273K probably damaging Het
Rslcan18 T C 13: 67,262,015 (GRCm39) I11V probably benign Het
Spidr G T 16: 15,730,424 (GRCm39) R664S possibly damaging Het
Tead3 T C 17: 28,552,055 (GRCm39) N385S probably benign Het
Trim13 T A 14: 61,843,172 (GRCm39) N396K probably benign Het
Trp53bp2 C T 1: 182,275,993 (GRCm39) A160V possibly damaging Het
Vmn2r69 A G 7: 85,056,072 (GRCm39) S689P possibly damaging Het
Vmn2r79 A T 7: 86,651,366 (GRCm39) Q255L probably benign Het
Zfp236 G T 18: 82,639,547 (GRCm39) N1233K probably damaging Het
Other mutations in Wsb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02352:Wsb1 APN 11 79,141,838 (GRCm39) missense probably damaging 1.00
IGL02359:Wsb1 APN 11 79,141,838 (GRCm39) missense probably damaging 1.00
IGL03218:Wsb1 APN 11 79,139,324 (GRCm39) missense probably damaging 0.97
R0488:Wsb1 UTSW 11 79,135,326 (GRCm39) missense probably damaging 1.00
R1051:Wsb1 UTSW 11 79,137,059 (GRCm39) missense probably damaging 1.00
R1612:Wsb1 UTSW 11 79,139,411 (GRCm39) missense probably benign 0.31
R2202:Wsb1 UTSW 11 79,131,212 (GRCm39) missense probably benign
R2449:Wsb1 UTSW 11 79,131,178 (GRCm39) missense probably benign
R4782:Wsb1 UTSW 11 79,131,199 (GRCm39) missense probably benign 0.44
R4805:Wsb1 UTSW 11 79,131,217 (GRCm39) missense possibly damaging 0.95
R4932:Wsb1 UTSW 11 79,141,826 (GRCm39) missense probably damaging 0.96
R5458:Wsb1 UTSW 11 79,139,262 (GRCm39) missense probably damaging 1.00
R6032:Wsb1 UTSW 11 79,131,025 (GRCm39) unclassified probably benign
R6032:Wsb1 UTSW 11 79,131,025 (GRCm39) unclassified probably benign
R6140:Wsb1 UTSW 11 79,132,444 (GRCm39) missense probably damaging 0.98
R6192:Wsb1 UTSW 11 79,139,336 (GRCm39) missense possibly damaging 0.94
R6498:Wsb1 UTSW 11 79,139,315 (GRCm39) missense probably damaging 1.00
R6545:Wsb1 UTSW 11 79,141,881 (GRCm39) missense probably damaging 1.00
R6608:Wsb1 UTSW 11 79,131,188 (GRCm39) missense probably benign 0.30
R7142:Wsb1 UTSW 11 79,141,814 (GRCm39) missense probably benign 0.01
R7339:Wsb1 UTSW 11 79,131,184 (GRCm39) missense probably damaging 0.97
R7361:Wsb1 UTSW 11 79,131,623 (GRCm39) critical splice acceptor site probably null
R8338:Wsb1 UTSW 11 79,137,103 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04