Incidental Mutation 'IGL02135:Wdr82'
ID281289
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 #IGL02135
Quality Score
Status
Chromosome9
Chromosomal Location106170928-106191139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 106171244 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 9 (R9L)
Ref Sequence ENSEMBL: ENSMUSP00000150926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020490] [ENSMUST00000214444] [ENSMUST00000216761]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020490
AA Change: R9L

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020490
Gene: ENSMUSG00000020257
AA Change: R9L

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: ENSMUST00000191147
Predicted Effect possibly damaging
Transcript: ENSMUST00000214444
AA Change: R9L

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216761
AA Change: R9L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000217532
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,773,929 K107R probably damaging Het
4930407I10Rik A G 15: 82,065,004 H1034R possibly damaging Het
App A G 16: 85,079,838 probably null Het
Arhgap23 G T 11: 97,451,702 R270L probably damaging Het
Arhgap36 T C X: 49,497,189 I342T possibly damaging Het
Arhgef12 A T 9: 42,972,165 M1356K possibly damaging Het
Asap3 A C 4: 136,241,153 probably null Het
Atl2 A G 17: 79,859,785 probably null Het
Cdh7 T A 1: 110,138,274 Y759* probably null Het
Celsr3 A G 9: 108,827,556 T413A probably benign Het
Cep97 A T 16: 55,922,967 I102K probably damaging Het
Ces2a T C 8: 104,740,181 S441P probably benign Het
Cops2 T C 2: 125,832,243 T435A probably benign Het
Ctc1 A G 11: 69,021,163 N56S probably benign Het
Dennd2a G A 6: 39,480,271 R746* probably null Het
Dnah5 T A 15: 28,247,885 C723S possibly damaging Het
Dnah7a A C 1: 53,623,473 V643G probably benign Het
Dnah9 A T 11: 66,117,492 S836T possibly damaging Het
Doxl2 G A 6: 48,975,564 R141Q probably benign Het
Edc4 T A 8: 105,885,822 V164D probably damaging Het
Gcfc2 A T 6: 81,941,400 D357V probably damaging Het
Grem1 T C 2: 113,749,787 N123S probably damaging Het
Gria1 T C 11: 57,185,853 V94A probably damaging Het
Hipk2 G A 6: 38,818,999 H112Y possibly damaging Het
Il7r T C 15: 9,508,006 N410S probably benign Het
Insr A T 8: 3,258,741 S98R probably damaging Het
Klhl7 T A 5: 24,141,281 Y308* probably null Het
Lcp1 T C 14: 75,200,486 V112A probably benign Het
Map2 A T 1: 66,380,761 R84* probably null Het
Mgst1 A T 6: 138,147,768 M27L probably damaging Het
Mroh7 A G 4: 106,702,510 L740P probably damaging Het
Mybpc3 T C 2: 91,124,826 F507L possibly damaging Het
Nqo2 A T 13: 33,985,343 K183* probably null Het
Nt5c1b T C 12: 10,377,194 Y315H probably damaging Het
Odc1 T A 12: 17,547,673 I48N probably damaging Het
Olfr1353 T A 10: 78,970,106 S152R probably damaging Het
Olfr444 A G 6: 42,955,651 D51G probably damaging Het
Osbpl5 T A 7: 143,705,125 D236V probably damaging Het
Prkg1 A G 19: 30,993,076 Y212H probably benign Het
Pttg1ip T C 10: 77,589,744 probably null Het
Serpina1f T A 12: 103,693,715 T103S possibly damaging Het
Skp2 T C 15: 9,125,147 D115G probably benign Het
Slc25a30 C T 14: 75,766,995 V221I probably benign Het
Slc7a3 A C X: 101,079,492 D609E probably benign Het
Strc C T 2: 121,364,834 G1656D probably damaging Het
Tbc1d8 A G 1: 39,402,810 F234L probably damaging Het
Tgm7 T G 2: 121,099,038 I252L possibly damaging Het
Tlr5 A G 1: 182,973,254 D41G possibly damaging Het
Tns2 T C 15: 102,113,026 L1034P probably damaging Het
Trim15 A G 17: 36,867,064 V13A probably benign Het
Uros C T 7: 133,687,005 V258M possibly damaging Het
Wdr75 G A 1: 45,817,448 probably null Het
Wdr75 A G 1: 45,814,563 Y378C probably damaging Het
Ybx3 G A 6: 131,380,929 R125C probably damaging Het
Zc3h12b A G X: 95,899,264 T49A probably benign Het
Zfyve27 G A 19: 42,184,136 V279M probably damaging Het
Other mutations in Wdr82
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Wdr82 APN 9 106184250 missense probably benign 0.19
IGL02604:Wdr82 APN 9 106183681 missense probably damaging 0.99
IGL02627:Wdr82 APN 9 106176687 missense possibly damaging 0.72
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