Incidental Mutation 'IGL02573:Wdr92'
ID299115
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: 0.322) question?
Stock #IGL02573
Quality Score
Status
Chromosome11
Chromosomal Location17182107-17233796 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17212136 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 58 (L58P)
Ref Sequence ENSEMBL: ENSMUSP00000040938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020317] [ENSMUST00000046955]
Predicted Effect probably benign
Transcript: ENSMUST00000020317
SMART Domains Protein: ENSMUSP00000020317
Gene: ENSMUSG00000020116

DomainStartEndE-ValueType
KH 153 226 8.92e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000046955
AA Change: L58P

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
AA Change: L58P

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: ENSMUST00000123754
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 T A 4: 99,037,934 W434R probably damaging Het
Atp7b T C 8: 22,022,470 Q344R probably benign Het
B4galt5 C T 2: 167,305,062 R284Q probably benign Het
Ccdc80 T G 16: 45,095,589 V236G probably damaging Het
Chd8 T C 14: 52,219,734 I926V possibly damaging Het
Dgkz A C 2: 91,934,197 S1030R probably damaging Het
Disp3 T A 4: 148,271,449 D318V probably damaging Het
Ehd1 T C 19: 6,294,300 S197P probably damaging Het
Emp1 A G 6: 135,379,947 K42R probably benign Het
Fam71a G A 1: 191,163,870 T192I probably damaging Het
Gm4922 T A 10: 18,783,675 D433V probably benign Het
Gsdma T C 11: 98,670,751 probably benign Het
Hspbp1 G T 7: 4,677,853 A208E probably damaging Het
Il5ra A T 6: 106,716,751 V342E possibly damaging Het
Kif13b T C 14: 64,803,431 F1660S probably damaging Het
Lvrn A G 18: 46,876,949 E388G probably damaging Het
Mettl17 G A 14: 51,888,047 probably null Het
Mgat5b T C 11: 116,977,714 Y488H probably benign Het
Mtr A T 13: 12,199,127 D886E possibly damaging Het
Naip6 A T 13: 100,299,471 L848* probably null Het
Nav3 A G 10: 109,866,974 S233P probably benign Het
Nme9 A T 9: 99,470,855 D286V probably benign Het
Nod1 C A 6: 54,943,945 A463S probably benign Het
Nthl1 A G 17: 24,633,975 K51R probably benign Het
Olfr354 A G 2: 36,907,554 I203V probably damaging Het
Olfr427 T A 1: 174,100,130 V224D possibly damaging Het
Pcnx2 G A 8: 125,855,273 A908V probably benign Het
Pdcd6 A G 13: 74,303,979 Y181H probably damaging Het
Pde10a A C 17: 8,961,890 I719L probably benign Het
Pikfyve T A 1: 65,230,855 probably null Het
Plekha5 G T 6: 140,582,016 A396S probably damaging Het
Ppfia2 A G 10: 106,828,928 T342A probably damaging Het
Rbck1 A G 2: 152,322,167 I339T possibly damaging Het
Rbms2 A T 10: 128,143,440 I140N probably damaging Het
Scn1b A T 7: 31,123,121 L78Q possibly damaging Het
Slc12a6 T C 2: 112,358,641 probably null Het
Slc25a30 A T 14: 75,769,668 probably benign Het
Slc30a7 C T 3: 115,990,147 probably benign Het
Slc5a10 C A 11: 61,673,072 R546L possibly damaging Het
Stxbp4 T C 11: 90,540,269 D405G probably damaging Het
Tm4sf19 A C 16: 32,407,860 T156P possibly damaging Het
Tmem37 A T 1: 120,067,989 D119E probably damaging Het
Tor1aip1 T A 1: 156,013,371 N113I probably damaging Het
Ubac2 T A 14: 121,907,390 Y87N possibly damaging Het
Usp29 A T 7: 6,962,618 probably null Het
Zfp276 A G 8: 123,264,997 E428G probably damaging Het
Other mutations in Wdr92
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Wdr92 APN 11 17232790 missense probably benign
IGL01801:Wdr92 APN 11 17219015 missense probably benign 0.00
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
R7367:Wdr92 UTSW 11 17232712 missense probably damaging 1.00
R7693:Wdr92 UTSW 11 17212064 missense probably benign 0.25
R7785:Wdr92 UTSW 11 17229785 missense probably damaging 1.00
Z1176:Wdr92 UTSW 11 17228184 missense probably damaging 1.00
Posted On2015-04-16