Incidental Mutation 'R4805:Wsb1'
ID 370636
Institutional Source Beutler Lab
Gene Symbol Wsb1
Ensembl Gene ENSMUSG00000017677
Gene Name WD repeat and SOCS box-containing 1
Synonyms 2700038M07Rik, 1110056B13Rik
MMRRC Submission 041999-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R4805 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 79130198-79145497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 79131217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 393 (M393R)
Ref Sequence ENSEMBL: ENSMUSP00000017821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017821] [ENSMUST00000131848] [ENSMUST00000145772]
AlphaFold O54927
Predicted Effect possibly damaging
Transcript: ENSMUST00000017821
AA Change: M393R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017821
Gene: ENSMUSG00000017677
AA Change: M393R

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
Meta Mutation Damage Score 0.0776 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,950,628 (GRCm39) Y1508* probably null Het
4931414P19Rik T C 14: 54,832,911 (GRCm39) E88G probably benign Het
Acaa1b A G 9: 118,986,014 (GRCm39) S17P probably benign Het
Arhgef7 G A 8: 11,881,552 (GRCm39) E565K probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bpnt1 T A 1: 185,077,504 (GRCm39) probably null Het
Ccnt1 C T 15: 98,442,189 (GRCm39) V360I probably benign Het
Chd4 T C 6: 125,105,908 (GRCm39) S1829P possibly damaging Het
Dennd1b A T 1: 138,981,122 (GRCm39) N112I probably damaging Het
Fat2 A T 11: 55,174,805 (GRCm39) D1969E probably benign Het
Flywch1 A C 17: 23,979,591 (GRCm39) D394E probably benign Het
Gal3st4 T A 5: 138,263,733 (GRCm39) probably null Het
Gm14403 T C 2: 177,200,492 (GRCm39) L146P probably damaging Het
Gm5283 G T 3: 17,285,123 (GRCm39) noncoding transcript Het
Gpr161 T A 1: 165,134,029 (GRCm39) L97Q probably damaging Het
Gstm2 A T 3: 107,892,411 (GRCm39) M105K possibly damaging Het
Hecw2 A G 1: 53,880,018 (GRCm39) Y1264H probably damaging Het
Ifi206 T A 1: 173,308,952 (GRCm39) Q348L possibly damaging Het
Ighv1-83 A T 12: 115,927,489 (GRCm39) M87K possibly damaging Het
Ighv2-7 A T 12: 113,771,154 (GRCm39) S44T probably damaging Het
Ipo7 T A 7: 109,650,691 (GRCm39) N884K probably benign Het
Itga2b T C 11: 102,358,692 (GRCm39) N75S probably benign Het
Krt20 A G 11: 99,319,811 (GRCm39) V431A unknown Het
Krt24 A T 11: 99,174,452 (GRCm39) I205N possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc31 A T 3: 30,745,446 (GRCm39) L67* probably null Het
Lrrc37a A G 11: 103,395,135 (GRCm39) F97L probably benign Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mgat4d T G 8: 84,084,787 (GRCm39) probably null Het
Mrgprb3 C T 7: 48,293,054 (GRCm39) V166I probably benign Het
Myh11 T A 16: 14,052,329 (GRCm39) Q379L possibly damaging Het
Myh7 T C 14: 55,222,590 (GRCm39) S782G probably benign Het
Nobox T C 6: 43,282,053 (GRCm39) D340G probably damaging Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Or2t29 G A 11: 58,433,396 (GRCm39) T315I probably benign Het
Or5b101 T A 19: 13,005,661 (GRCm39) I11F probably benign Het
Pikfyve T A 1: 65,307,959 (GRCm39) I1845N probably damaging Het
Pramel15 A G 4: 144,103,590 (GRCm39) Y179H probably benign Het
Rad21l T G 2: 151,509,927 (GRCm39) H58P probably damaging Het
Scnn1g T C 7: 121,345,825 (GRCm39) L316S probably damaging Het
Serpina5 G A 12: 104,068,460 (GRCm39) V174I probably damaging Het
Shank1 T C 7: 43,993,135 (GRCm39) S788P unknown Het
Shisal1 T A 15: 84,301,397 (GRCm39) H82L probably damaging Het
Snap47 A G 11: 59,319,343 (GRCm39) V265A possibly damaging Het
Steap3 T A 1: 120,171,616 (GRCm39) H163L probably benign Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tet2 A G 3: 133,173,076 (GRCm39) F1729L probably benign Het
Thsd7b T C 1: 130,116,276 (GRCm39) V1343A probably benign Het
Thumpd2 G A 17: 81,334,130 (GRCm39) T486I probably damaging Het
Ttc41 G T 10: 86,565,662 (GRCm39) M405I possibly damaging Het
Ttn T C 2: 76,577,873 (GRCm39) D24340G probably damaging Het
Vmn1r10 T G 6: 57,090,602 (GRCm39) F65V possibly damaging Het
Vmn2r118 G T 17: 55,899,581 (GRCm39) D774E probably damaging Het
Vmn2r13 C T 5: 109,304,331 (GRCm39) C700Y probably damaging Het
Zmat3 A G 3: 32,397,504 (GRCm39) Y214H probably benign Het
Zswim3 C T 2: 164,662,099 (GRCm39) T193I possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGACGCTTGAGCTGGTAAAG -3'
(R):5'- TTGCACCTTTGAGCAATGGTC -3'

Sequencing Primer
(F):5'- AAAGCTTGAGGTGTGTCTTGTAAAG -3'
(R):5'- ACTTGCCTTGCCTTGGAG -3'
Posted On 2016-02-04