Incidental Mutation 'IGL02627:Wdr82'
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Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr82
Ensembl Gene ENSMUSG00000020257
Gene NameWD repeat domain containing 82
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #IGL02627
Quality Score
Chromosomal Location106170928-106191139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106176687 bp
Amino Acid Change Valine to Alanine at position 79 (V79A)
Ref Sequence ENSEMBL: ENSMUSP00000020490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020490] [ENSMUST00000190564] [ENSMUST00000214444] [ENSMUST00000216761]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020490
AA Change: V79A

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020490
Gene: ENSMUSG00000020257
AA Change: V79A

WD40 10 49 9.52e-6 SMART
WD40 96 135 3.47e-8 SMART
WD40 138 175 4.11e1 SMART
WD40 180 222 2.75e1 SMART
WD40 225 267 2.49e-1 SMART
WD40 270 308 1.33e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083506
Predicted Effect probably benign
Transcript: ENSMUST00000190564
AA Change: V4A

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191147
Predicted Effect probably benign
Transcript: ENSMUST00000214444
Predicted Effect probably benign
Transcript: ENSMUST00000216761
Predicted Effect possibly damaging
Transcript: ENSMUST00000217532
AA Change: V26A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,795,765 K353M probably damaging Het
2610301B20Rik G A 4: 10,898,039 C207Y probably damaging Het
Arhgap32 T C 9: 32,246,006 Y100H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ckap5 A T 2: 91,576,021 N752I probably damaging Het
Dgkz T A 2: 91,938,710 probably benign Het
Egfr T A 11: 16,869,346 V292E probably damaging Het
Gnb3 T C 6: 124,834,715 T329A probably damaging Het
Igkv3-2 A T 6: 70,698,826 T40S probably damaging Het
Kcnq2 T C 2: 181,082,327 probably benign Het
Mbip T C 12: 56,335,805 Q292R probably benign Het
Mgat5b T C 11: 116,983,616 Y625H probably damaging Het
Ms4a4d A T 19: 11,548,623 E40D probably damaging Het
Naip1 T C 13: 100,425,648 E1003G possibly damaging Het
Ncf2 G A 1: 152,811,008 probably benign Het
Nfkbiz A G 16: 55,816,351 V529A probably damaging Het
Osr2 A G 15: 35,300,454 N52S possibly damaging Het
Prag1 A G 8: 36,139,439 D778G possibly damaging Het
Rsl1d1 G T 16: 11,194,551 A337E possibly damaging Het
Sall3 A T 18: 80,972,361 L784Q possibly damaging Het
Spen A G 4: 141,473,015 I2744T probably damaging Het
Tfip11 A C 5: 112,329,813 S145R possibly damaging Het
Tonsl T C 15: 76,634,095 D559G probably damaging Het
Trmt5 A T 12: 73,281,455 S325T probably damaging Het
Ubr1 A T 2: 120,940,991 V472D probably damaging Het
Vmn1r30 T A 6: 58,435,761 T29S probably benign Het
Vps29 T C 5: 122,362,845 S158P probably benign Het
Wfdc16 T A 2: 164,638,463 E37D possibly damaging Het
Other mutations in Wdr82
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Wdr82 APN 9 106184250 missense probably benign 0.19
IGL02135:Wdr82 APN 9 106171244 missense possibly damaging 0.94
IGL02604:Wdr82 APN 9 106183681 missense probably damaging 0.99
IGL03181:Wdr82 APN 9 106186415 missense probably benign 0.00
R0844:Wdr82 UTSW 9 106188581 unclassified probably benign
R5867:Wdr82 UTSW 9 106185304 missense probably benign 0.00
R5869:Wdr82 UTSW 9 106185304 missense probably benign 0.00
R7136:Wdr82 UTSW 9 106171333 missense probably benign 0.07
R7228:Wdr82 UTSW 9 106176672 missense probably benign
R7481:Wdr82 UTSW 9 106176666 missense probably damaging 0.98
Z1088:Wdr82 UTSW 9 106184800 missense probably benign
Posted On2015-04-16