Incidental Mutation 'R2449:Wsb1'
ID 248945
Institutional Source Beutler Lab
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 # R2449 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 79130198-79145497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79131178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 406 (K406R)
Ref Sequence ENSEMBL: ENSMUSP00000017821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017821] [ENSMUST00000131848] [ENSMUST00000145772]
AlphaFold O54927
Predicted Effect probably benign
Transcript: ENSMUST00000017821
AA Change: K406R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000017821
Gene: ENSMUSG00000017677
AA Change: K406R

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Cd83 A T 13: 43,951,132 (GRCm39) T95S probably damaging Het
Cdc27 T C 11: 104,396,464 (GRCm39) D819G probably benign Het
Hey2 A T 10: 30,716,442 (GRCm39) I64K possibly damaging Het
Il10rb A G 16: 91,208,791 (GRCm39) H67R probably benign Het
Itgav T A 2: 83,599,094 (GRCm39) probably null Het
Lhx1 G A 11: 84,412,564 (GRCm39) R119C probably damaging Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or12j2 A T 7: 139,916,345 (GRCm39) Q190L probably benign Het
Siglec1 T C 2: 130,920,645 (GRCm39) T720A probably benign Het
Sycp1 T C 3: 102,832,522 (GRCm39) I215V probably benign Het
Trim63 A G 4: 134,050,418 (GRCm39) E234G probably damaging Het
Vmn2r56 C T 7: 12,428,082 (GRCm39) S728N possibly damaging Het
Wdr64 A T 1: 175,526,479 (GRCm39) I43L 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
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
Predicted Primers PCR Primer
(F):5'- GCCCATTCAATATATAGCAGCAG -3'
(R):5'- TCTACAGCTGTAGGGACATAGGAC -3'

Sequencing Primer
(F):5'- GCAGCAGCTCATGTCTAAATATATAC -3'
(R):5'- CATAGGACAAGTGTAGTTGTGTAACC -3'
Posted On 2014-11-12