Incidental Mutation 'R6545:Wsb1'
ID 521126
Institutional Source Beutler Lab
Gene Symbol Wsb1
Ensembl Gene ENSMUSG00000017677
Gene Name WD repeat and SOCS box-containing 1
Synonyms 2700038M07Rik, 1110056B13Rik
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 79130198-79145497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79141881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 45 (D45E)
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: D45E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017821
Gene: ENSMUSG00000017677
AA Change: D45E

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 possibly damaging
Transcript: ENSMUST00000131848
AA Change: D45E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128181
Gene: ENSMUSG00000017677
AA Change: D45E

DomainStartEndE-ValueType
Blast:WD40 25 62 2e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137890
Predicted Effect possibly damaging
Transcript: ENSMUST00000145772
AA Change: D45E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137999
Gene: ENSMUSG00000017677
AA Change: D45E

DomainStartEndE-ValueType
Blast:WD40 25 62 3e-19 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign Het
Other mutations in Wsb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Wsb1 APN 11 79,132,867 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACAAGCTTCTAACACTGGCTG -3'
(R):5'- GCCAAAATAATATGGGGCCATG -3'

Sequencing Primer
(F):5'- GCCCATTGGATACGCAGACTTTG -3'
(R):5'- CCATGTGAATCCGGTGATTGCATAC -3'
Posted On 2018-06-06