Incidental Mutation 'IGL02627:Wdr82'
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ID301137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr82
Ensembl Gene ENSMUSG00000020257
Gene NameWD repeat domain containing 82
Synonyms9430077D24Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #IGL02627
Quality Score
Status
Chromosome9
Chromosomal Location106170928-106191139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106176687 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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