Incidental Mutation 'IGL03201:Wsb2'
ID 412965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wsb2
Ensembl Gene ENSMUSG00000029364
Gene Name WD repeat and SOCS box-containing 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03201
Quality Score
Status
Chromosome 5
Chromosomal Location 117495370-117516666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117514620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 298 (S298P)
Ref Sequence ENSEMBL: ENSMUSP00000031309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031309] [ENSMUST00000086461] [ENSMUST00000111959]
AlphaFold O54929
Predicted Effect possibly damaging
Transcript: ENSMUST00000031309
AA Change: S298P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031309
Gene: ENSMUSG00000029364
AA Change: S298P

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Blast:WD40 17 54 5e-17 BLAST
WD40 81 139 3.57e0 SMART
WD40 142 182 1.43e-9 SMART
WD40 186 225 1.59e-7 SMART
WD40 228 267 7.16e-10 SMART
WD40 270 321 6.53e-4 SMART
WD40 324 361 6.42e-1 SMART
SOCS 360 403 5.56e-17 SMART
SOCS_box 366 402 1.16e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086461
SMART Domains Protein: ENSMUSP00000083652
Gene: ENSMUSG00000029363

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
AAA 51 179 4.16e-14 SMART
Pfam:Rep_fac_C 241 327 1.8e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111959
AA Change: S300P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107590
Gene: ENSMUSG00000029364
AA Change: S300P

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Blast:WD40 18 56 7e-18 BLAST
WD40 83 141 3.57e0 SMART
WD40 144 184 1.43e-9 SMART
WD40 188 227 1.59e-7 SMART
WD40 230 269 7.16e-10 SMART
WD40 272 323 6.53e-4 SMART
WD40 326 363 6.42e-1 SMART
SOCS 362 405 5.56e-17 SMART
SOCS_box 368 404 1.16e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149669
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. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,468 (GRCm39) E105G probably damaging Het
Apc A G 18: 34,445,429 (GRCm39) D757G probably damaging Het
Arpc3 A T 5: 122,539,781 (GRCm39) I45F probably damaging Het
C3 C A 17: 57,529,249 (GRCm39) V597L probably damaging Het
Ccdc181 A G 1: 164,108,213 (GRCm39) N299D probably benign Het
Cdr1 T A X: 60,229,154 (GRCm39) Q4L unknown Het
Cep170 G A 1: 176,564,454 (GRCm39) S1464F probably damaging Het
Cfh A G 1: 140,030,557 (GRCm39) Y826H probably damaging Het
Chic2 A G 5: 75,171,954 (GRCm39) probably benign Het
Chrne T C 11: 70,509,338 (GRCm39) H81R probably benign Het
Clec4e A G 6: 123,260,599 (GRCm39) I153T probably benign Het
Col14a1 A T 15: 55,272,300 (GRCm39) D699V unknown Het
Cul3 T G 1: 80,259,144 (GRCm39) S379R probably damaging Het
Cyp3a11 T A 5: 145,797,189 (GRCm39) I397F possibly damaging Het
Dnah1 T C 14: 31,022,906 (GRCm39) K1077R probably benign Het
Dnajc18 A G 18: 35,813,972 (GRCm39) S266P probably benign Het
Dydc1 T G 14: 40,800,647 (GRCm39) L74R probably damaging Het
Echdc2 G T 4: 108,027,067 (GRCm39) A71S possibly damaging Het
Fer1l4 T A 2: 155,886,650 (GRCm39) D693V probably benign Het
Fscn3 T C 6: 28,430,604 (GRCm39) V258A probably benign Het
Herc2 T A 7: 55,869,516 (GRCm39) I4255N probably damaging Het
Il1rl2 A G 1: 40,382,200 (GRCm39) I171V possibly damaging Het
Ino80d G T 1: 63,097,467 (GRCm39) T809K probably damaging Het
Lama2 A T 10: 27,220,566 (GRCm39) L433* probably null Het
Nlrp9c A T 7: 26,084,533 (GRCm39) S349T probably benign Het
Parp11 T C 6: 127,466,981 (GRCm39) I124T possibly damaging Het
Parp8 A T 13: 116,999,605 (GRCm39) probably benign Het
Pgm1 T C 4: 99,827,236 (GRCm39) F379L probably damaging Het
Phf21b T C 15: 84,671,448 (GRCm39) H482R probably benign Het
Phka1 A C X: 101,584,716 (GRCm39) probably null Het
Plekhh1 T C 12: 79,100,430 (GRCm39) W133R probably damaging Het
Polr2a A C 11: 69,636,516 (GRCm39) L405* probably null Het
Prrg3 T A X: 71,010,108 (GRCm39) V3E probably damaging Het
Pth1r T C 9: 110,551,648 (GRCm39) K484E probably damaging Het
Rcbtb1 T C 14: 59,460,727 (GRCm39) L230P probably damaging Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Ssbp2 T C 13: 91,672,720 (GRCm39) Y27H probably damaging Het
Sult2a4 A G 7: 13,665,692 (GRCm39) V157A probably damaging Het
Tbx15 G A 3: 99,259,296 (GRCm39) S389N probably benign Het
Ttn T G 2: 76,671,424 (GRCm39) probably benign Het
Ube2n T C 10: 95,378,127 (GRCm39) probably benign Het
Wdr95 G A 5: 149,505,352 (GRCm39) probably null Het
Zc3h7a T C 16: 10,974,166 (GRCm39) probably null Het
Zfat A G 15: 68,037,758 (GRCm39) C906R probably damaging Het
Zfp747 G A 7: 126,973,180 (GRCm39) T330I probably damaging Het
Zfp949 A G 9: 88,450,717 (GRCm39) R96G probably benign Het
Other mutations in Wsb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Wsb2 APN 5 117,509,229 (GRCm39) missense probably damaging 0.97
R0124:Wsb2 UTSW 5 117,501,823 (GRCm39) missense probably benign
R0479:Wsb2 UTSW 5 117,514,744 (GRCm39) splice site probably benign
R1148:Wsb2 UTSW 5 117,508,742 (GRCm39) splice site probably benign
R2002:Wsb2 UTSW 5 117,508,798 (GRCm39) missense probably benign 0.01
R4394:Wsb2 UTSW 5 117,501,643 (GRCm39) splice site probably benign
R4942:Wsb2 UTSW 5 117,515,550 (GRCm39) missense probably damaging 1.00
R5788:Wsb2 UTSW 5 117,515,483 (GRCm39) missense possibly damaging 0.82
R5951:Wsb2 UTSW 5 117,515,600 (GRCm39) missense probably damaging 1.00
R6564:Wsb2 UTSW 5 117,508,625 (GRCm39) splice site probably null
R7121:Wsb2 UTSW 5 117,508,944 (GRCm39) missense probably damaging 0.96
R7155:Wsb2 UTSW 5 117,509,160 (GRCm39) missense probably damaging 1.00
R7330:Wsb2 UTSW 5 117,508,827 (GRCm39) missense probably damaging 1.00
R7768:Wsb2 UTSW 5 117,501,787 (GRCm39) missense probably benign 0.29
R8377:Wsb2 UTSW 5 117,514,766 (GRCm39) missense possibly damaging 0.82
R8884:Wsb2 UTSW 5 117,508,769 (GRCm39) missense probably benign 0.08
R9185:Wsb2 UTSW 5 117,501,736 (GRCm39) missense possibly damaging 0.92
Z1088:Wsb2 UTSW 5 117,515,571 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02