Incidental Mutation 'IGL01801:Wdr92'
ID155520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr92
Ensembl Gene ENSMUSG00000078970
Gene NameWD repeat domain 92
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.317) question?
Stock #IGL01801
Quality Score
Status
Chromosome11
Chromosomal Location17182107-17233796 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17219015 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 62 (I62T)
Ref Sequence ENSEMBL: ENSMUSP00000040938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046955]
Predicted Effect probably benign
Transcript: ENSMUST00000046955
AA Change: I62T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
AA Change: I62T

DomainStartEndE-ValueType
WD40 55 96 6.88e0 SMART
WD40 100 145 5.15e-2 SMART
Blast:WD40 149 196 8e-27 BLAST
WD40 199 240 2.54e2 SMART
WD40 246 288 2.06e0 SMART
WD40 310 350 7.7e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151431
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 protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik C T 17: 53,724,842 noncoding transcript Het
Acsm4 C T 7: 119,707,263 T308I possibly damaging Het
Adamtsl1 A G 4: 86,199,322 N174S probably benign Het
Atp1b1 C T 1: 164,438,349 G281D probably damaging Het
Cacna1e T C 1: 154,471,340 N1027S probably null Het
Cacnb4 A T 2: 52,434,711 N446K probably benign Het
Ccdc173 A T 2: 69,776,279 probably benign Het
Col13a1 T C 10: 61,843,614 D215G probably damaging Het
Cyp2d22 T C 15: 82,372,845 T312A probably benign Het
Cyp4f40 A T 17: 32,676,305 N467I probably damaging Het
Ehd4 A T 2: 120,102,341 D201E probably damaging Het
Farsb T C 1: 78,458,579 T444A probably benign Het
Gabra6 A C 11: 42,315,108 I307R probably damaging Het
Impg2 G A 16: 56,236,748 R287H probably damaging Het
Khdrbs1 A G 4: 129,741,781 V127A probably benign Het
Lcp1 A T 14: 75,199,375 T54S probably benign Het
Mrgpra6 T C 7: 47,185,824 D283G possibly damaging Het
Mterf4 T C 1: 93,304,920 R70G probably benign Het
Mtmr12 T C 15: 12,269,959 L711P probably damaging Het
Olfr732 A G 14: 50,282,208 I15T probably benign Het
Pax8 A G 2: 24,444,564 probably null Het
Prmt9 T C 8: 77,562,440 V257A probably damaging Het
Sspo T C 6: 48,457,138 V959A probably damaging Het
Vps54 T C 11: 21,275,131 probably null Het
Wdr70 C T 15: 7,887,324 probably null Het
Other mutations in Wdr92
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Wdr92 APN 11 17232790 missense probably benign
IGL02573:Wdr92 APN 11 17212136 missense possibly damaging 0.92
IGL02985:Wdr92 APN 11 17229845 missense probably damaging 1.00
IGL03148:Wdr92 APN 11 17229845 missense probably damaging 1.00
IGL03147:Wdr92 UTSW 11 17229845 missense probably damaging 1.00
R0244:Wdr92 UTSW 11 17229851 missense probably damaging 1.00
R0276:Wdr92 UTSW 11 17229821 missense probably benign 0.33
R1013:Wdr92 UTSW 11 17228183 missense probably damaging 1.00
R1660:Wdr92 UTSW 11 17227183 missense probably benign 0.00
R2030:Wdr92 UTSW 11 17229832 missense probably benign
R4663:Wdr92 UTSW 11 17232853 missense probably benign 0.01
R4676:Wdr92 UTSW 11 17229794 missense probably benign 0.00
R4822:Wdr92 UTSW 11 17227165 missense probably damaging 1.00
R5328:Wdr92 UTSW 11 17222220 missense probably damaging 0.97
R5439:Wdr92 UTSW 11 17212031 missense possibly damaging 0.46
R5473:Wdr92 UTSW 11 17224591 missense probably damaging 0.99
R5642:Wdr92 UTSW 11 17227263 missense possibly damaging 0.89
R5771:Wdr92 UTSW 11 17224638 missense probably benign 0.00
R6680:Wdr92 UTSW 11 17229857 missense probably damaging 1.00
R6889:Wdr92 UTSW 11 17222309 missense probably damaging 1.00
Posted On2014-02-04