Incidental Mutation 'IGL02928:Wdr36'
ID 363990
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 # IGL02928
Quality Score
Status
Chromosome 18
Chromosomal Location 32970241-33000008 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 32980372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053663] [ENSMUST00000166214]
AlphaFold Q3TAQ9
Predicted Effect probably null
Transcript: ENSMUST00000053663
SMART Domains Protein: ENSMUSP00000052465
Gene: ENSMUSG00000038299

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 probably null
Transcript: ENSMUST00000166214
SMART Domains Protein: ENSMUSP00000132189
Gene: ENSMUSG00000038299

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,980,327 (GRCm39) Y92C probably damaging Het
Aadacl4fm1 A T 4: 144,255,802 (GRCm39) L407F possibly damaging Het
Abcc3 G T 11: 94,252,132 (GRCm39) T817K possibly damaging Het
Arhgap10 G A 8: 77,977,539 (GRCm39) probably benign Het
Arhgef16 G T 4: 154,367,350 (GRCm39) Q352K probably benign Het
Cep104 A G 4: 154,065,716 (GRCm39) I68V probably benign Het
Col5a2 G A 1: 45,424,180 (GRCm39) A1082V probably benign Het
Col6a1 A T 10: 76,545,500 (GRCm39) Y991N possibly damaging Het
Ehmt2 T C 17: 35,129,798 (GRCm39) I1021T probably damaging Het
Eif2ak4 G A 2: 118,303,168 (GRCm39) probably null Het
Ern1 A G 11: 106,296,705 (GRCm39) probably benign Het
Fgf18 A T 11: 33,074,674 (GRCm39) I99N possibly damaging Het
Glp1r A G 17: 31,137,911 (GRCm39) D114G probably benign Het
Gm10553 A G 1: 85,077,933 (GRCm39) K17E possibly damaging Het
Gm5422 T A 10: 31,126,250 (GRCm39) noncoding transcript Het
Gnb1 A C 4: 155,637,863 (GRCm39) T196P probably benign Het
Ighv6-5 T A 12: 114,380,412 (GRCm39) D35V probably benign Het
Il18r1 G A 1: 40,517,711 (GRCm39) probably null Het
Ipo11 A T 13: 107,025,863 (GRCm39) probably benign Het
Itih1 T A 14: 30,659,715 (GRCm39) Q307L probably damaging Het
Mmp1b T A 9: 7,368,242 (GRCm39) *464L probably null Het
Mrps7 C T 11: 115,495,910 (GRCm39) Q113* probably null Het
Npat A C 9: 53,478,138 (GRCm39) probably benign Het
Nrp2 A G 1: 62,854,605 (GRCm39) I852V probably damaging Het
Or10ak14 A G 4: 118,611,697 (GRCm39) F15L probably damaging Het
Or5ae2 A G 7: 84,506,273 (GRCm39) E232G probably benign Het
P2rx6 T A 16: 17,382,901 (GRCm39) probably benign Het
Parp6 T A 9: 59,548,346 (GRCm39) N466K possibly damaging Het
Prss12 A T 3: 123,280,805 (GRCm39) N497Y possibly damaging Het
Psg22 T C 7: 18,453,458 (GRCm39) V51A probably damaging Het
Ptgir T C 7: 16,642,923 (GRCm39) S175P possibly damaging Het
Rd3l T C 12: 111,946,012 (GRCm39) S156G probably benign Het
Reck C T 4: 43,912,078 (GRCm39) H196Y possibly damaging Het
Rft1 T A 14: 30,385,072 (GRCm39) V165D possibly damaging Het
Rin2 A G 2: 145,701,926 (GRCm39) probably benign Het
Rufy4 A G 1: 74,168,241 (GRCm39) probably benign Het
Scfd2 G A 5: 74,691,832 (GRCm39) T150M probably damaging Het
Sgca A G 11: 94,863,129 (GRCm39) W75R probably damaging Het
Sirt7 A T 11: 120,511,042 (GRCm39) D318E probably benign Het
Smr2l A T 5: 88,424,976 (GRCm39) I14L probably benign Het
Snta1 C T 2: 154,222,959 (GRCm39) A255T probably benign Het
Stxbp2 A G 8: 3,691,736 (GRCm39) D485G probably damaging Het
Sycp1 T A 3: 102,726,134 (GRCm39) probably benign Het
Tenm2 A G 11: 35,917,997 (GRCm39) V1922A possibly damaging Het
Ttc7b A T 12: 100,369,674 (GRCm39) V365D probably damaging Het
Upk3b A G 5: 136,067,995 (GRCm39) E62G probably benign Het
Yars2 T C 16: 16,121,410 (GRCm39) F188S probably damaging 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
IGL02625:Wdr36 APN 18 32,992,314 (GRCm39) missense possibly damaging 0.51
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 2015-12-18