Incidental Mutation 'IGL02625:Wdr36'
ID 301016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr36
Ensembl Gene ENSMUSG00000038299
Gene Name WD repeat domain 36
Synonyms 5730444A13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02625
Quality Score
Status
Chromosome 18
Chromosomal Location 32970241-33000008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32992314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 617 (V617A)
Ref Sequence ENSEMBL: ENSMUSP00000132189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053663] [ENSMUST00000166214]
AlphaFold Q3TAQ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000053663
AA Change: V617A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000052465
Gene: ENSMUSG00000038299
AA Change: V617A

DomainStartEndE-ValueType
WD40 98 135 3.21e-1 SMART
Blast:WD40 140 180 3e-15 BLAST
WD40 183 222 9.21e0 SMART
WD40 226 265 1.43e0 SMART
WD40 268 308 5.35e-1 SMART
WD40 315 355 7.43e-1 SMART
WD40 473 515 1.46e-1 SMART
WD40 559 598 2.2e-10 SMART
WD40 601 640 1.43e1 SMART
Pfam:Utp21 673 895 9.7e-72 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166214
AA Change: V617A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132189
Gene: ENSMUSG00000038299
AA Change: V617A

DomainStartEndE-ValueType
WD40 98 135 3.21e-1 SMART
Blast:WD40 140 180 3e-15 BLAST
WD40 183 222 9.21e0 SMART
WD40 226 265 1.43e0 SMART
WD40 268 308 5.35e-1 SMART
WD40 315 355 7.43e-1 SMART
WD40 473 515 1.46e-1 SMART
WD40 559 598 2.2e-10 SMART
WD40 601 640 1.43e1 SMART
Pfam:Utp21 668 883 6.1e-72 PFAM
Meta Mutation Damage Score 0.7302 question?
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 encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality before implantation. In culture, homozygous mutant embryos fail to reach the blastocyst stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,634,584 (GRCm39) C109S probably damaging Het
Arhgdia C A 11: 120,471,039 (GRCm39) E53D probably benign Het
Ccr4 A C 9: 114,321,401 (GRCm39) C221W probably damaging Het
Ces2a G A 8: 105,466,910 (GRCm39) probably null Het
Chpf2 G T 5: 24,796,709 (GRCm39) E552* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dock2 A G 11: 34,451,168 (GRCm39) probably null Het
Esr1 A T 10: 4,951,346 (GRCm39) T575S probably benign Het
Fancc A G 13: 63,545,965 (GRCm39) C93R probably damaging Het
Foxj3 A T 4: 119,482,114 (GRCm39) R523W unknown Het
Fryl C T 5: 73,227,220 (GRCm39) probably benign Het
Fsip2 A C 2: 82,779,836 (GRCm39) H194P probably benign Het
Gaa G A 11: 119,165,559 (GRCm39) V350I probably damaging Het
Gpn3 T A 5: 122,519,257 (GRCm39) I152N probably damaging Het
H2-M10.3 T A 17: 36,678,417 (GRCm39) H136L probably benign Het
H4c16 C T 6: 136,781,335 (GRCm39) probably benign Het
Hspg2 A G 4: 137,239,953 (GRCm39) D507G probably damaging Het
Jcad A G 18: 4,674,422 (GRCm39) E728G probably benign Het
Kat14 G A 2: 144,244,365 (GRCm39) R406H possibly damaging Het
Kcnma1 G T 14: 23,413,900 (GRCm39) D863E probably damaging Het
Lrp1 A G 10: 127,410,355 (GRCm39) Y1464H probably damaging Het
Map4 T C 9: 109,893,485 (GRCm39) S584P probably damaging Het
Nlrp4f G A 13: 65,347,085 (GRCm39) L58F probably damaging Het
Nlrp6 A G 7: 140,503,413 (GRCm39) I506M probably benign Het
Nudt17 G A 3: 96,613,780 (GRCm39) R266W probably damaging Het
Or4a47 A G 2: 89,665,740 (GRCm39) L183P probably damaging Het
Or4a69 A G 2: 89,313,018 (GRCm39) S154P probably damaging Het
Or52h9 A G 7: 104,202,780 (GRCm39) Y218C probably damaging Het
Plcb4 A G 2: 135,803,714 (GRCm39) E529G probably benign Het
Prss32 A T 17: 24,075,210 (GRCm39) I187F possibly damaging Het
Prss55 A T 14: 64,316,818 (GRCm39) I108K probably damaging Het
Rcl1 A G 19: 29,095,741 (GRCm39) M109V probably benign Het
Rho A T 6: 115,912,158 (GRCm39) M207L possibly damaging Het
Slc12a1 A G 2: 125,012,611 (GRCm39) D291G probably damaging Het
Slco2b1 A C 7: 99,309,330 (GRCm39) probably null Het
Stx11 T A 10: 12,817,661 (GRCm39) D21V possibly damaging Het
Svep1 T A 4: 58,115,807 (GRCm39) Y962F possibly damaging Het
Tbx5 G T 5: 119,974,972 (GRCm39) probably benign Het
Tcf12 C A 9: 71,830,039 (GRCm39) G141W probably damaging Het
Tmtc2 A G 10: 105,206,407 (GRCm39) M296T probably damaging Het
Trim13 T A 14: 61,842,999 (GRCm39) S339T probably benign Het
Ugt1a7c A G 1: 88,023,239 (GRCm39) K133E possibly damaging Het
Usp40 A G 1: 87,877,739 (GRCm39) V1050A probably benign Het
Vmn2r86 T G 10: 130,288,781 (GRCm39) N240T probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr6 T C 9: 108,452,704 (GRCm39) Y393C probably damaging Het
Zfp619 A T 7: 39,183,609 (GRCm39) probably benign Het
Other mutations in Wdr36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Wdr36 APN 18 32,978,684 (GRCm39) missense possibly damaging 0.86
IGL01975:Wdr36 APN 18 32,985,541 (GRCm39) missense probably damaging 1.00
IGL02001:Wdr36 APN 18 32,985,941 (GRCm39) missense probably damaging 1.00
IGL02605:Wdr36 APN 18 32,985,044 (GRCm39) missense possibly damaging 0.94
IGL02928:Wdr36 APN 18 32,980,372 (GRCm39) critical splice donor site probably null
R0025:Wdr36 UTSW 18 32,992,360 (GRCm39) missense probably damaging 1.00
R0025:Wdr36 UTSW 18 32,992,360 (GRCm39) missense probably damaging 1.00
R0062:Wdr36 UTSW 18 32,997,802 (GRCm39) missense possibly damaging 0.90
R0062:Wdr36 UTSW 18 32,997,802 (GRCm39) missense possibly damaging 0.90
R0331:Wdr36 UTSW 18 32,985,968 (GRCm39) missense possibly damaging 0.83
R0626:Wdr36 UTSW 18 32,983,584 (GRCm39) missense probably damaging 1.00
R0835:Wdr36 UTSW 18 32,982,135 (GRCm39) missense possibly damaging 0.87
R1484:Wdr36 UTSW 18 32,976,938 (GRCm39) missense possibly damaging 0.77
R1498:Wdr36 UTSW 18 32,986,021 (GRCm39) missense possibly damaging 0.95
R3522:Wdr36 UTSW 18 32,994,538 (GRCm39) splice site probably null
R4521:Wdr36 UTSW 18 32,974,201 (GRCm39) splice site probably null
R4902:Wdr36 UTSW 18 32,992,314 (GRCm39) missense possibly damaging 0.51
R5482:Wdr36 UTSW 18 32,974,957 (GRCm39) missense probably benign 0.19
R5574:Wdr36 UTSW 18 32,999,012 (GRCm39) missense probably damaging 1.00
R5627:Wdr36 UTSW 18 32,994,691 (GRCm39) missense possibly damaging 0.73
R6076:Wdr36 UTSW 18 32,979,998 (GRCm39) missense probably damaging 1.00
R6186:Wdr36 UTSW 18 32,985,954 (GRCm39) missense probably benign 0.19
R6228:Wdr36 UTSW 18 32,975,059 (GRCm39) missense possibly damaging 0.67
R7027:Wdr36 UTSW 18 32,974,958 (GRCm39) missense probably benign 0.04
R7112:Wdr36 UTSW 18 32,972,504 (GRCm39) missense probably benign 0.34
R7635:Wdr36 UTSW 18 32,983,578 (GRCm39) missense probably benign 0.19
R7642:Wdr36 UTSW 18 32,987,624 (GRCm39) splice site probably null
R7998:Wdr36 UTSW 18 32,985,572 (GRCm39) missense probably damaging 1.00
R8200:Wdr36 UTSW 18 32,998,979 (GRCm39) missense probably benign 0.10
R8203:Wdr36 UTSW 18 32,985,136 (GRCm39) nonsense probably null
R8257:Wdr36 UTSW 18 32,974,339 (GRCm39) intron probably benign
R8334:Wdr36 UTSW 18 32,992,346 (GRCm39) missense possibly damaging 0.95
R8845:Wdr36 UTSW 18 32,994,098 (GRCm39) nonsense probably null
R8894:Wdr36 UTSW 18 32,970,340 (GRCm39) start gained probably benign
R8901:Wdr36 UTSW 18 32,980,013 (GRCm39) missense probably damaging 1.00
R9044:Wdr36 UTSW 18 32,970,499 (GRCm39) missense probably damaging 1.00
R9181:Wdr36 UTSW 18 32,981,382 (GRCm39) missense possibly damaging 0.83
R9565:Wdr36 UTSW 18 32,994,168 (GRCm39) nonsense probably null
R9800:Wdr36 UTSW 18 32,985,700 (GRCm39) missense possibly damaging 0.94
X0063:Wdr36 UTSW 18 32,997,775 (GRCm39) missense probably damaging 0.96
Z1088:Wdr36 UTSW 18 32,999,065 (GRCm39) splice site probably null
Posted On 2015-04-16