Incidental Mutation 'R9748:Wdr62'
ID 732319
Institutional Source Beutler Lab
Gene Symbol Wdr62
Ensembl Gene ENSMUSG00000037020
Gene Name WD repeat domain 62
Synonyms 2310038K02Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 29939563-29979844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29953466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 635 (M635L)
Ref Sequence ENSEMBL: ENSMUSP00000103825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108190] [ENSMUST00000134570] [ENSMUST00000145027]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000108190
AA Change: M635L

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: M635L

DomainStartEndE-ValueType
low complexity region 27 53 N/A INTRINSIC
WD40 101 142 4.24e-3 SMART
WD40 145 186 1.03e-1 SMART
WD40 189 226 7.4e0 SMART
WD40 284 322 3.55e1 SMART
WD40 353 388 1.85e0 SMART
WD40 395 442 2.98e-1 SMART
WD40 482 521 2.77e-1 SMART
WD40 524 566 2.3e0 SMART
WD40 570 610 4.18e-2 SMART
WD40 615 657 1.54e0 SMART
WD40 660 702 8.49e-3 SMART
WD40 705 744 3.61e-6 SMART
low complexity region 763 768 N/A INTRINSIC
low complexity region 797 811 N/A INTRINSIC
low complexity region 980 987 N/A INTRINSIC
low complexity region 1215 1226 N/A INTRINSIC
low complexity region 1302 1313 N/A INTRINSIC
low complexity region 1477 1497 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000134570
AA Change: M189L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: M189L

DomainStartEndE-ValueType
WD40 36 75 2.77e-1 SMART
WD40 78 120 2.3e0 SMART
WD40 124 164 4.18e-2 SMART
WD40 169 211 1.54e0 SMART
WD40 214 256 8.49e-3 SMART
WD40 259 298 3.61e-6 SMART
low complexity region 317 322 N/A INTRINSIC
low complexity region 351 365 N/A INTRINSIC
low complexity region 512 519 N/A INTRINSIC
low complexity region 744 755 N/A INTRINSIC
low complexity region 831 842 N/A INTRINSIC
low complexity region 1006 1026 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145027
AA Change: M635L

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
AA Change: M635L

DomainStartEndE-ValueType
low complexity region 27 53 N/A INTRINSIC
WD40 101 142 4.24e-3 SMART
WD40 145 186 1.03e-1 SMART
WD40 189 226 7.4e0 SMART
WD40 284 322 3.55e1 SMART
WD40 353 388 1.85e0 SMART
WD40 395 442 2.98e-1 SMART
WD40 482 521 2.77e-1 SMART
WD40 524 566 2.3e0 SMART
WD40 570 610 4.18e-2 SMART
WD40 615 657 1.54e0 SMART
WD40 660 702 8.49e-3 SMART
WD40 705 744 3.61e-6 SMART
low complexity region 763 768 N/A INTRINSIC
low complexity region 797 811 N/A INTRINSIC
low complexity region 980 987 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice for a hypomorphic allele exhibit reduced brain size due to decreased neural progenitor cells. Cells show spindle instability, spindle assembly checkpoint activation, mitotic arrest and cell death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,301,068 (GRCm39) T221A probably benign Het
Adamts12 G A 15: 11,310,628 (GRCm39) V962I probably damaging Het
Ano3 T A 2: 110,488,640 (GRCm39) I931F probably damaging Het
Anxa2r2 T A 13: 120,488,200 (GRCm39) E116D possibly damaging Het
Arih1 T G 9: 59,300,581 (GRCm39) D555A possibly damaging Het
Arsg A G 11: 109,381,452 (GRCm39) D65G probably damaging Het
Atp8b3 G A 10: 80,364,407 (GRCm39) T567I probably damaging Het
Camkk2 G C 5: 122,872,182 (GRCm39) R575G probably benign Het
Ccdc168 G T 1: 44,095,824 (GRCm39) S1758Y possibly damaging Het
Ccdc88b G T 19: 6,831,461 (GRCm39) L494M probably damaging Het
Cdc7 A G 5: 107,123,405 (GRCm39) K317E possibly damaging Het
Cfh A G 1: 140,090,687 (GRCm39) probably null Het
Cp T G 3: 20,043,335 (GRCm39) V1041G possibly damaging Het
Cpeb3 A G 19: 37,151,926 (GRCm39) V150A probably benign Het
Cyp7a1 T A 4: 6,269,216 (GRCm39) E352V probably damaging Het
Dnah9 T A 11: 65,976,290 (GRCm39) H1253L possibly damaging Het
Dsg3 T C 18: 20,672,761 (GRCm39) S811P possibly damaging Het
Efcab5 A T 11: 77,007,022 (GRCm39) Y867* probably null Het
Eif2ak1 A G 5: 143,819,031 (GRCm39) T231A probably damaging Het
Eif2ak4 T A 2: 118,247,730 (GRCm39) C256S probably benign Het
Eif5b A G 1: 38,090,241 (GRCm39) N1140S possibly damaging Het
Etnppl A T 3: 130,414,002 (GRCm39) M34L probably benign Het
Fcrl5 T G 3: 87,364,469 (GRCm39) C549W possibly damaging Het
Fhod1 G A 8: 106,058,323 (GRCm39) A811V probably damaging Het
Flcn C T 11: 59,692,980 (GRCm39) S198N probably benign Het
Fndc1 T A 17: 7,991,929 (GRCm39) H589L unknown Het
Gm8108 G T 14: 4,110,527 (GRCm38) probably benign Het
Hcn4 C T 9: 58,730,996 (GRCm39) R68W unknown Het
Igfn1 A G 1: 135,926,336 (GRCm39) L38P possibly damaging Het
Il1r1 A G 1: 40,349,496 (GRCm39) T351A probably benign Het
Ildr2 T C 1: 166,096,889 (GRCm39) L36P probably damaging Het
Itgb1bp1 C T 12: 21,324,876 (GRCm39) C60Y probably damaging Het
Jrk A G 15: 74,579,225 (GRCm39) L20P probably damaging Het
Kif5c C T 2: 49,584,859 (GRCm39) A194V probably damaging Het
Lrp4 C T 2: 91,316,116 (GRCm39) L745F probably damaging Het
Ly9 A T 1: 171,428,722 (GRCm39) D299E possibly damaging Het
Mfsd1 C T 3: 67,499,910 (GRCm39) T185I possibly damaging Het
Mprip A G 11: 59,656,348 (GRCm39) Y808C probably damaging Het
Mrps2 C A 2: 28,359,594 (GRCm39) H150Q possibly damaging Het
Mtcl3 A T 10: 29,024,398 (GRCm39) D438V probably damaging Het
Mturn A T 6: 54,665,989 (GRCm39) probably null Het
Myo5a T C 9: 75,091,965 (GRCm39) S1205P probably damaging Het
Nckap5 G A 1: 125,953,939 (GRCm39) P871L probably damaging Het
Ndst3 T A 3: 123,421,631 (GRCm39) I401F probably benign Het
Nek4 G A 14: 30,709,114 (GRCm39) V723M possibly damaging Het
Nfe2l2 A G 2: 75,506,667 (GRCm39) S478P probably damaging Het
Nol6 T C 4: 41,123,538 (GRCm39) Y70C probably damaging Het
Nup88 T C 11: 70,860,497 (GRCm39) E94G probably benign Het
Oas1h A T 5: 121,005,088 (GRCm39) N179Y probably damaging Het
Or1o11 T G 17: 37,756,595 (GRCm39) V61G probably benign Het
Or8b39 T A 9: 37,996,353 (GRCm39) S74T probably benign Het
Otof T C 5: 30,540,998 (GRCm39) D847G probably damaging Het
Pak1 C A 7: 97,547,842 (GRCm39) D331E possibly damaging Het
Pkd1l3 T C 8: 110,373,555 (GRCm39) W1374R probably benign Het
Pkdrej G T 15: 85,704,871 (GRCm39) T355K possibly damaging Het
Pramel27 A G 4: 143,579,892 (GRCm39) *492W probably null Het
Prkcd A T 14: 30,320,800 (GRCm39) F607I possibly damaging Het
Prrc2c A G 1: 162,535,435 (GRCm39) S775P unknown Het
Prss16 G T 13: 22,192,504 (GRCm39) H154N possibly damaging Het
Psme2b T C 11: 48,836,779 (GRCm39) D56G possibly damaging Het
Rapsn C T 2: 90,875,823 (GRCm39) P400L probably damaging Het
Rptn A G 3: 93,304,761 (GRCm39) D698G possibly damaging Het
Rragc T C 4: 123,818,658 (GRCm39) V291A possibly damaging Het
Rras2 A G 7: 113,716,629 (GRCm39) probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scyl2 A C 10: 89,476,794 (GRCm39) M777R probably benign Het
Serhl G T 15: 82,998,597 (GRCm39) V235L probably benign Het
Sh2b3 T C 5: 121,955,874 (GRCm39) Y536C probably damaging Het
Sh3pxd2a T C 19: 47,257,093 (GRCm39) M570V probably benign Het
Slamf8 C T 1: 172,411,800 (GRCm39) V232M probably benign Het
Slc6a21 T A 7: 44,929,941 (GRCm39) L143Q probably damaging Het
Snx9 T A 17: 5,949,670 (GRCm39) D123E probably benign Het
Spopfm2 G A 3: 94,083,155 (GRCm39) H219Y probably damaging Het
Supt6 C A 11: 78,108,767 (GRCm39) R1178L probably damaging Het
Sycp2 T G 2: 178,025,304 (GRCm39) E379D probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tg A G 15: 66,719,008 (GRCm39) M2655V possibly damaging Het
Tiam2 C T 17: 3,561,440 (GRCm39) T1335I probably benign Het
Tmem154 T A 3: 84,573,693 (GRCm39) L12Q possibly damaging Het
Trpv3 A T 11: 73,174,499 (GRCm39) I289F possibly damaging Het
Tubgcp3 A G 8: 12,699,758 (GRCm39) L365P probably damaging Het
Tulp4 T C 17: 6,291,480 (GRCm39) probably null Het
Tyr A G 7: 87,142,072 (GRCm39) S163P possibly damaging Het
Usp42 A T 5: 143,713,533 (GRCm39) probably null Het
Vmn2r94 A G 17: 18,463,989 (GRCm39) M767T probably benign Het
Wasl A G 6: 24,619,533 (GRCm39) V329A unknown Het
Wee1 G T 7: 109,721,722 (GRCm39) E56* probably null Het
Zc3h12c C T 9: 52,055,231 (GRCm39) G193S probably damaging Het
Zfp236 T A 18: 82,637,008 (GRCm39) Q1426L possibly damaging Het
Zfp74 T C 7: 29,634,751 (GRCm39) Y319C probably damaging Het
Other mutations in Wdr62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Wdr62 APN 7 29,942,948 (GRCm39) missense probably benign 0.00
IGL00428:Wdr62 APN 7 29,970,177 (GRCm39) missense probably damaging 0.99
IGL00579:Wdr62 APN 7 29,967,320 (GRCm39) missense probably damaging 1.00
IGL00709:Wdr62 APN 7 29,941,486 (GRCm39) missense probably benign 0.05
IGL00924:Wdr62 APN 7 29,942,231 (GRCm39) missense probably damaging 1.00
IGL00924:Wdr62 APN 7 29,964,643 (GRCm39) missense probably damaging 0.99
IGL00956:Wdr62 APN 7 29,960,764 (GRCm39) missense probably damaging 0.96
IGL01016:Wdr62 APN 7 29,953,676 (GRCm39) missense probably benign 0.39
IGL01118:Wdr62 APN 7 29,942,206 (GRCm39) missense probably damaging 0.96
IGL01458:Wdr62 APN 7 29,941,187 (GRCm39) missense probably benign 0.08
IGL01977:Wdr62 APN 7 29,957,526 (GRCm39) missense probably damaging 1.00
IGL02065:Wdr62 APN 7 29,942,894 (GRCm39) missense possibly damaging 0.59
IGL02155:Wdr62 APN 7 29,962,068 (GRCm39) missense probably damaging 1.00
IGL02260:Wdr62 APN 7 29,970,207 (GRCm39) missense probably damaging 1.00
IGL02404:Wdr62 APN 7 29,967,298 (GRCm39) missense probably damaging 1.00
IGL02491:Wdr62 APN 7 29,942,184 (GRCm39) missense probably benign 0.19
IGL02556:Wdr62 APN 7 29,944,709 (GRCm39) splice site probably null
IGL02739:Wdr62 APN 7 29,941,885 (GRCm39) nonsense probably null
IGL03387:Wdr62 APN 7 29,970,199 (GRCm39) missense possibly damaging 0.90
ivoire UTSW 7 29,971,045 (GRCm39) missense probably damaging 1.00
I0000:Wdr62 UTSW 7 29,944,752 (GRCm39) missense probably benign 0.03
R0304:Wdr62 UTSW 7 29,942,299 (GRCm39) missense probably benign 0.20
R0371:Wdr62 UTSW 7 29,941,583 (GRCm39) missense possibly damaging 0.56
R0400:Wdr62 UTSW 7 29,940,887 (GRCm39) missense possibly damaging 0.81
R0621:Wdr62 UTSW 7 29,953,486 (GRCm39) missense possibly damaging 0.94
R0634:Wdr62 UTSW 7 29,969,599 (GRCm39) missense probably damaging 0.98
R1758:Wdr62 UTSW 7 29,967,328 (GRCm39) missense probably damaging 1.00
R2205:Wdr62 UTSW 7 29,957,574 (GRCm39) critical splice acceptor site probably null
R2254:Wdr62 UTSW 7 29,967,328 (GRCm39) missense probably damaging 0.97
R2255:Wdr62 UTSW 7 29,967,328 (GRCm39) missense probably damaging 0.97
R2566:Wdr62 UTSW 7 29,973,424 (GRCm39) missense probably damaging 1.00
R2851:Wdr62 UTSW 7 29,960,862 (GRCm39) missense possibly damaging 0.70
R3150:Wdr62 UTSW 7 29,971,095 (GRCm39) missense possibly damaging 0.94
R4355:Wdr62 UTSW 7 29,941,673 (GRCm39) missense probably damaging 1.00
R4517:Wdr62 UTSW 7 29,969,683 (GRCm39) missense probably damaging 1.00
R4839:Wdr62 UTSW 7 29,970,111 (GRCm39) missense probably damaging 1.00
R4839:Wdr62 UTSW 7 29,940,890 (GRCm39) missense probably benign 0.00
R5193:Wdr62 UTSW 7 29,964,592 (GRCm39) missense probably damaging 0.99
R5289:Wdr62 UTSW 7 29,967,300 (GRCm39) missense probably damaging 1.00
R5306:Wdr62 UTSW 7 29,964,688 (GRCm39) missense possibly damaging 0.94
R5878:Wdr62 UTSW 7 29,940,772 (GRCm39) missense probably benign
R5942:Wdr62 UTSW 7 29,942,504 (GRCm39) nonsense probably null
R6051:Wdr62 UTSW 7 29,960,809 (GRCm39) missense possibly damaging 0.69
R6237:Wdr62 UTSW 7 29,941,860 (GRCm39) missense probably damaging 1.00
R6727:Wdr62 UTSW 7 29,971,045 (GRCm39) missense probably damaging 1.00
R7158:Wdr62 UTSW 7 29,970,163 (GRCm39) missense possibly damaging 0.77
R7208:Wdr62 UTSW 7 29,951,761 (GRCm39) missense probably damaging 0.97
R7237:Wdr62 UTSW 7 29,969,869 (GRCm39) splice site probably null
R7336:Wdr62 UTSW 7 29,943,342 (GRCm39) missense probably damaging 0.98
R7559:Wdr62 UTSW 7 29,970,198 (GRCm39) missense probably damaging 0.98
R7845:Wdr62 UTSW 7 29,964,667 (GRCm39) missense possibly damaging 0.79
R7936:Wdr62 UTSW 7 29,964,584 (GRCm39) missense probably damaging 1.00
R8002:Wdr62 UTSW 7 29,951,785 (GRCm39) missense probably damaging 1.00
R8347:Wdr62 UTSW 7 29,962,128 (GRCm39) missense possibly damaging 0.88
R8399:Wdr62 UTSW 7 29,957,486 (GRCm39) missense probably damaging 1.00
R8954:Wdr62 UTSW 7 29,953,454 (GRCm39) missense probably damaging 1.00
R9044:Wdr62 UTSW 7 29,962,062 (GRCm39) missense probably benign
R9166:Wdr62 UTSW 7 29,941,874 (GRCm39) missense probably damaging 1.00
R9212:Wdr62 UTSW 7 29,942,563 (GRCm39) missense probably damaging 1.00
Z1176:Wdr62 UTSW 7 29,955,353 (GRCm39) missense probably benign 0.00
Z1186:Wdr62 UTSW 7 29,950,184 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACAAAGGCGGGGTCCATC -3'
(R):5'- AGCATCTACTTTCGCAGTGCC -3'

Sequencing Primer
(F):5'- GGTCCATCAGCCTTACCAG -3'
(R):5'- TTTCGCAGTGCCCAGCAG -3'
Posted On 2022-11-14