Incidental Mutation 'IGL02739:Wdr62'
ID 305819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr62
Ensembl Gene ENSMUSG00000037020
Gene Name WD repeat domain 62
Synonyms 2310038K02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02739
Quality Score
Status
Chromosome 7
Chromosomal Location 29939563-29979844 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 29941885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 640 (Y640*)
Ref Sequence ENSEMBL: ENSMUSP00000116139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108190] [ENSMUST00000134570] [ENSMUST00000145027]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000108190
AA Change: Y1111*
SMART Domains Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: Y1111*

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 noncoding transcript
Transcript: ENSMUST00000132483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133347
Predicted Effect probably null
Transcript: ENSMUST00000134570
AA Change: Y640*
SMART Domains Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: Y640*

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
SMART Domains Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152543
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,026,364 (GRCm39) C887S possibly damaging Het
Adamdec1 C A 14: 68,807,605 (GRCm39) E352* probably null Het
Bglap2 A T 3: 88,285,319 (GRCm39) probably null Het
Bsn A T 9: 107,989,745 (GRCm39) H2002Q probably benign Het
Chtop T A 3: 90,409,557 (GRCm39) Q165L possibly damaging Het
Clcn1 A T 6: 42,263,714 (GRCm39) probably null Het
Ctsr T C 13: 61,309,658 (GRCm39) T184A probably benign Het
Defb36 T C 2: 152,446,439 (GRCm39) L11P unknown Het
Dock8 A G 19: 25,165,852 (GRCm39) E1912G probably damaging Het
Dpp3 A G 19: 4,973,756 (GRCm39) Y106H probably damaging Het
Epas1 A G 17: 87,112,710 (GRCm39) T103A probably damaging Het
Epcam A T 17: 87,947,922 (GRCm39) T131S probably benign Het
Fam169a A G 13: 97,230,563 (GRCm39) probably benign Het
Gh T A 11: 106,192,559 (GRCm39) probably benign Het
Kif20a A T 18: 34,761,996 (GRCm39) K399* probably null Het
Lrp1b A G 2: 41,388,227 (GRCm39) I466T probably damaging Het
Nlk A G 11: 78,465,677 (GRCm39) V409A probably benign Het
Nomo1 A G 7: 45,693,731 (GRCm39) probably null Het
Nr2c1 T A 10: 93,992,834 (GRCm39) M16K probably damaging Het
Nxph2 A T 2: 23,289,912 (GRCm39) Q88L probably benign Het
Or51a39 A G 7: 102,363,521 (GRCm39) I33T possibly damaging Het
Pkdrej T A 15: 85,703,895 (GRCm39) R680S probably benign Het
Pkhd1l1 A T 15: 44,404,346 (GRCm39) N2325I probably benign Het
Pnliprp2 T C 19: 58,748,941 (GRCm39) probably null Het
Ppp1r42 T A 1: 10,039,078 (GRCm39) K347N probably benign Het
Prtg T C 9: 72,758,867 (GRCm39) V407A possibly damaging Het
Psmb8 C A 17: 34,419,728 (GRCm39) S194* probably null Het
Rnf214 T C 9: 45,780,772 (GRCm39) I406V probably benign Het
Rreb1 C T 13: 38,077,797 (GRCm39) S3L probably damaging Het
Sdad1 C T 5: 92,437,931 (GRCm39) A539T probably benign Het
Sema3a A G 5: 13,501,128 (GRCm39) Y57C probably damaging Het
Susd5 A G 9: 113,925,101 (GRCm39) E328G possibly damaging Het
Syngr3 T C 17: 24,905,372 (GRCm39) T175A probably damaging Het
Tcf20 T A 15: 82,740,281 (GRCm39) Q390L probably damaging Het
Tex15 A G 8: 34,071,721 (GRCm39) T2423A possibly damaging Het
Tlr1 T C 5: 65,084,469 (GRCm39) N36S probably benign Het
Uchl4 C T 9: 64,142,819 (GRCm39) T100M probably damaging Het
Uhrf1 A G 17: 56,612,129 (GRCm39) K11R probably benign Het
Vps13b T A 15: 35,880,046 (GRCm39) D3040E probably damaging Het
Zkscan17 T G 11: 59,394,352 (GRCm39) E83A 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
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
R9748:Wdr62 UTSW 7 29,953,466 (GRCm39) missense possibly damaging 0.80
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
Posted On 2015-04-16