Incidental Mutation 'R5867:Wdr82'
ID 454231
Institutional Source Beutler Lab
Gene Symbol Wdr82
Ensembl Gene ENSMUSG00000020257
Gene Name WD repeat domain containing 82
Synonyms 9430077D24Rik
MMRRC Submission 043233-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R5867 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 106048127-106068338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106062503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 252 (Q252R)
Ref Sequence ENSEMBL: ENSMUSP00000020490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020490] [ENSMUST00000190564] [ENSMUST00000214444] [ENSMUST00000216761]
AlphaFold Q8BFQ4
Predicted Effect probably benign
Transcript: ENSMUST00000020490
AA Change: Q252R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000020490
Gene: ENSMUSG00000020257
AA Change: Q252R

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 probably benign
Transcript: ENSMUST00000190564
Predicted Effect probably benign
Transcript: ENSMUST00000214444
Predicted Effect probably benign
Transcript: ENSMUST00000216761
Predicted Effect probably benign
Transcript: ENSMUST00000217532
Meta Mutation Damage Score 0.0654 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.3%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,987,416 (GRCm39) V2900A probably damaging Het
Akip1 A G 7: 109,306,684 (GRCm39) H127R probably benign Het
Alad A T 4: 62,431,203 (GRCm39) Y56N probably damaging Het
Aldoart1 T A 4: 72,770,770 (GRCm39) M13L probably benign Het
Ap1g1 C T 8: 110,545,614 (GRCm39) A89V probably damaging Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Cd209b T C 8: 3,974,246 (GRCm39) I89V possibly damaging Het
Cd36 T C 5: 17,990,733 (GRCm39) K469R probably benign Het
Cdh20 T A 1: 109,976,581 (GRCm39) I82N probably damaging Het
Clmn G T 12: 104,748,014 (GRCm39) P511H probably damaging Het
Cyfip1 A C 7: 55,576,061 (GRCm39) D1077A probably damaging Het
Cyp2a5 T C 7: 26,542,383 (GRCm39) F462L probably benign Het
Dclk2 A G 3: 86,699,166 (GRCm39) *709Q probably null Het
Drd1 T C 13: 54,208,182 (GRCm39) T4A probably benign Het
Ephb2 C T 4: 136,402,733 (GRCm39) V513I possibly damaging Het
Fam43a T A 16: 30,420,277 (GRCm39) V287E probably benign Het
Gm5134 A G 10: 75,844,450 (GRCm39) E602G probably benign Het
Gtsf2 C T 15: 103,348,063 (GRCm39) G149E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Klhl6 T C 16: 19,801,570 (GRCm39) T62A probably benign Het
Lamb1 T A 12: 31,348,954 (GRCm39) I662N possibly damaging Het
Lmod3 A G 6: 97,224,963 (GRCm39) V286A probably damaging Het
Mefv T C 16: 3,533,797 (GRCm39) D158G probably damaging Het
Mff T C 1: 82,728,327 (GRCm39) probably null Het
Mfsd6l G T 11: 68,448,036 (GRCm39) V296L possibly damaging Het
Neu2 G T 1: 87,524,478 (GRCm39) Q154H probably damaging Het
Or5m3b A G 2: 85,871,795 (GRCm39) I45M probably benign Het
Pdk4 T A 6: 5,487,452 (GRCm39) H266L probably benign Het
Pdrg1 T C 2: 152,855,975 (GRCm39) N40D probably damaging Het
Pi4k2a T C 19: 42,093,924 (GRCm39) probably null Het
Pkd1l2 T A 8: 117,781,750 (GRCm39) D765V probably damaging Het
Pspc1 A T 14: 56,999,498 (GRCm39) probably null Het
Ptprm T C 17: 67,352,976 (GRCm39) probably null Het
Spata31d1d T C 13: 59,875,054 (GRCm39) K827R possibly damaging Het
Srebf2 T A 15: 82,053,987 (GRCm39) F46Y probably damaging Het
Tfrc T A 16: 32,439,230 (GRCm39) C365S possibly damaging Het
Ttc7 A G 17: 87,629,900 (GRCm39) H294R possibly damaging Het
Ubr7 T A 12: 102,727,753 (GRCm39) Y92N probably damaging Het
Vmn1r42 A C 6: 89,821,761 (GRCm39) Y269* probably null Het
Vmn2r1 A G 3: 64,011,990 (GRCm39) E617G probably benign Het
Vps13c A G 9: 67,889,904 (GRCm39) probably null Het
Vps50 T C 6: 3,536,965 (GRCm39) L312P probably damaging Het
Zcchc3 A G 2: 152,256,444 (GRCm39) F85S probably damaging Het
Zfhx3 T C 8: 109,520,078 (GRCm39) L400P probably damaging Het
Other mutations in Wdr82
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Wdr82 APN 9 106,061,449 (GRCm39) missense probably benign 0.19
IGL02135:Wdr82 APN 9 106,048,443 (GRCm39) missense possibly damaging 0.94
IGL02604:Wdr82 APN 9 106,060,880 (GRCm39) missense probably damaging 0.99
IGL02627:Wdr82 APN 9 106,053,886 (GRCm39) missense possibly damaging 0.72
IGL03181:Wdr82 APN 9 106,063,614 (GRCm39) missense probably benign 0.00
R0844:Wdr82 UTSW 9 106,065,780 (GRCm39) unclassified probably benign
R5869:Wdr82 UTSW 9 106,062,503 (GRCm39) missense probably benign 0.00
R7136:Wdr82 UTSW 9 106,048,532 (GRCm39) missense probably benign 0.07
R7228:Wdr82 UTSW 9 106,053,871 (GRCm39) missense probably benign
R7481:Wdr82 UTSW 9 106,053,865 (GRCm39) missense probably damaging 0.98
R8826:Wdr82 UTSW 9 106,061,975 (GRCm39) missense probably benign 0.29
R8964:Wdr82 UTSW 9 106,053,861 (GRCm39) missense possibly damaging 0.66
Z1088:Wdr82 UTSW 9 106,061,999 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCTACACTTGGTCTTAGTGAC -3'
(R):5'- AAGGAACTCATGCCAGTGTTAG -3'

Sequencing Primer
(F):5'- GTCTTAGTGACATTGCACAGAGACC -3'
(R):5'- TCTGAAGGTCCGGAGTTCAAATCC -3'
Posted On 2017-02-10