Incidental Mutation 'IGL01446:Wsb2'
ID84407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wsb2
Ensembl Gene ENSMUSG00000029364
Gene NameWD repeat and SOCS box-containing 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01446
Quality Score
Status
Chromosome5
Chromosomal Location117357304-117378601 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 117371164 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 170 (I170S)
Ref Sequence ENSEMBL: ENSMUSP00000107590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031309] [ENSMUST00000111959]
Predicted Effect probably damaging
Transcript: ENSMUST00000031309
AA Change: I168S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031309
Gene: ENSMUSG00000029364
AA Change: I168S

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 damaging
Transcript: ENSMUST00000111959
AA Change: I170S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107590
Gene: ENSMUSG00000029364
AA Change: I170S

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: ENSMUST00000125522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138071
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Acaca A G 11: 84,260,631 K785R probably damaging Het
Acsm3 G A 7: 119,778,454 V401M probably damaging Het
Aff4 G T 11: 53,415,469 R1146L probably damaging Het
Alms1 C A 6: 85,696,701 P3562T probably damaging Het
Arsj A G 3: 126,438,814 E403G probably benign Het
Baiap2l1 C T 5: 144,275,913 V431I probably benign Het
Cecr2 T A 6: 120,758,599 M904K probably benign Het
Cenpe A T 3: 135,237,539 T775S probably benign Het
Dennd1b G A 1: 139,023,110 E30K possibly damaging Het
Dnah5 A G 15: 28,326,669 D2008G probably damaging Het
Dnm2 T C 9: 21,481,376 V460A probably damaging Het
Ell2 G T 13: 75,761,991 L285F probably benign Het
Erg A G 16: 95,361,282 S322P probably damaging Het
Extl3 A G 14: 65,077,080 F218L probably benign Het
Fam84a A T 12: 14,149,928 I266N probably damaging Het
Fzd9 T C 5: 135,250,566 E155G probably damaging Het
Ghr A G 15: 3,333,355 W212R probably damaging Het
Gulp1 A G 1: 44,744,548 probably benign Het
Hdgfl2 C T 17: 56,097,281 R332C possibly damaging Het
Nsd2 T C 5: 33,861,186 probably benign Het
Olfr1259 A G 2: 89,943,938 F59S probably damaging Het
Olfr1441 T C 19: 12,422,801 I164T possibly damaging Het
Olfr1480 C T 19: 13,530,252 T237I probably benign Het
Phf11b A C 14: 59,341,291 S9A probably benign Het
Psd4 T C 2: 24,405,395 S854P probably damaging Het
Reln C T 5: 21,969,317 D1963N probably damaging Het
Rpe65 T A 3: 159,600,405 probably benign Het
Sdccag8 T C 1: 176,845,245 S235P probably damaging Het
Sgip1 G T 4: 102,928,913 probably null Het
Skint5 G A 4: 113,942,822 P36L probably damaging Het
Slc26a3 G T 12: 31,452,491 probably benign Het
Snx13 T A 12: 35,124,480 C669* probably null Het
Svil A T 18: 5,062,385 T902S probably damaging Het
Syne2 T C 12: 76,041,375 S4989P probably damaging Het
Ttn G A 2: 76,809,939 T13775M probably damaging Het
Ubr4 T C 4: 139,438,040 probably benign Het
Ush1c C T 7: 46,208,956 R636H possibly damaging Het
Usp17lc A T 7: 103,418,444 R315S probably benign Het
Vmn1r236 T A 17: 21,286,656 V12D probably benign Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging Het
Other mutations in Wsb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03201:Wsb2 APN 5 117376555 missense possibly damaging 0.94
R0124:Wsb2 UTSW 5 117363758 missense probably benign
R0479:Wsb2 UTSW 5 117376679 splice site probably benign
R1148:Wsb2 UTSW 5 117370677 splice site probably benign
R2002:Wsb2 UTSW 5 117370733 missense probably benign 0.01
R4394:Wsb2 UTSW 5 117363578 splice site probably benign
R4942:Wsb2 UTSW 5 117377485 missense probably damaging 1.00
R5788:Wsb2 UTSW 5 117377418 missense possibly damaging 0.82
R5951:Wsb2 UTSW 5 117377535 missense probably damaging 1.00
R6564:Wsb2 UTSW 5 117370560 splice site probably null
R7121:Wsb2 UTSW 5 117370879 missense probably damaging 0.96
R7155:Wsb2 UTSW 5 117371095 missense probably damaging 1.00
R7330:Wsb2 UTSW 5 117370762 missense probably damaging 1.00
R7768:Wsb2 UTSW 5 117363722 missense probably benign 0.29
R8377:Wsb2 UTSW 5 117376701 missense possibly damaging 0.82
Z1088:Wsb2 UTSW 5 117377506 missense probably damaging 1.00
Posted On2013-11-11