Incidental Mutation 'R0835:Wdr36'
ID 77868
Institutional Source Beutler Lab
Gene Symbol Wdr36
Ensembl Gene ENSMUSG00000038299
Gene Name WD repeat domain 36
Synonyms 5730444A13Rik
MMRRC Submission 039014-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0835 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 32970241-33000008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32982135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 371 (N371I)
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: N371I

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000052465
Gene: ENSMUSG00000038299
AA Change: N371I

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: N371I

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132189
Gene: ENSMUSG00000038299
AA Change: N371I

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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 90.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik G T 6: 146,855,036 (GRCm39) probably benign Het
Abca16 A G 7: 120,065,007 (GRCm39) T555A probably benign Het
Abca4 A T 3: 121,919,862 (GRCm39) D1048V probably damaging Het
Abcf2 G T 5: 24,779,251 (GRCm39) T99N probably damaging Het
Acan A T 7: 78,763,980 (GRCm39) S2119C probably damaging Het
Adgre4 G A 17: 56,106,637 (GRCm39) C292Y probably damaging Het
Alk A G 17: 72,176,837 (GRCm39) F1489S probably damaging Het
Ampd2 A G 3: 107,983,818 (GRCm39) V573A possibly damaging Het
Aoc1 T C 6: 48,882,448 (GRCm39) F130S probably damaging Het
Bbs2 A T 8: 94,801,887 (GRCm39) I554N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cbfa2t3 T C 8: 123,374,517 (GRCm39) H76R probably benign Het
Cdc14a G T 3: 116,122,171 (GRCm39) N216K probably benign Het
Cep126 T C 9: 8,130,224 (GRCm39) Y69C probably damaging Het
Cep135 A T 5: 76,763,553 (GRCm39) R514S probably benign Het
Cfi A T 3: 129,662,191 (GRCm39) Y390F probably damaging Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Clptm1 A G 7: 19,369,599 (GRCm39) V437A possibly damaging Het
Coro2b T C 9: 62,333,119 (GRCm39) N422S possibly damaging Het
Coro7 T C 16: 4,450,118 (GRCm39) E577G probably benign Het
Crh G A 3: 19,748,528 (GRCm39) P38L probably benign Het
Ctif T A 18: 75,568,407 (GRCm39) D577V probably damaging Het
Deup1 T A 9: 15,511,047 (GRCm39) Q244L probably damaging Het
Dhx16 A G 17: 36,192,581 (GRCm39) E171G probably damaging Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dync1i2 C T 2: 71,081,316 (GRCm39) L508F probably damaging Het
Dync2h1 T A 9: 7,116,642 (GRCm39) probably null Het
E2f4 C T 8: 106,027,140 (GRCm39) Q235* probably null Het
Eif2b3 A G 4: 116,916,002 (GRCm39) H203R probably damaging Het
Epha5 A T 5: 84,534,101 (GRCm39) W77R probably damaging Het
Gpx6 C T 13: 21,501,238 (GRCm39) P109S probably damaging Het
Gsdmc4 A T 15: 63,765,649 (GRCm39) V300E probably damaging Het
Gspt1 A C 16: 11,056,802 (GRCm39) S198A probably benign Het
Ift70a2 T C 2: 75,808,494 (GRCm39) N6S probably benign Het
Itpk1 C T 12: 102,641,707 (GRCm39) V39M probably damaging Het
Kremen2 G T 17: 23,961,811 (GRCm39) P232Q probably damaging Het
Lamtor4 C A 5: 138,257,320 (GRCm39) T74K probably benign Het
Mbtd1 T A 11: 93,822,665 (GRCm39) F492I probably benign Het
Mroh1 G T 15: 76,336,083 (GRCm39) V1486F probably damaging Het
Myg1 G A 15: 102,240,537 (GRCm39) V76M probably damaging Het
Myo16 G T 8: 10,322,766 (GRCm39) Q65H probably damaging Het
Ncapg A G 5: 45,838,790 (GRCm39) E487G probably damaging Het
Ncoa5 T C 2: 164,844,714 (GRCm39) E332G probably damaging Het
Nek6 T A 2: 38,459,643 (GRCm39) I162N possibly damaging Het
Nwd2 C A 5: 63,957,473 (GRCm39) R268S probably damaging Het
Or4c11 T C 2: 88,695,345 (GRCm39) V132A probably benign Het
Or9a7 T C 6: 40,521,272 (GRCm39) I214V probably benign Het
Palm3 T G 8: 84,754,776 (GRCm39) S141A probably benign Het
Pbrm1 T C 14: 30,789,536 (GRCm39) F728L probably damaging Het
Phf3 A G 1: 30,869,632 (GRCm39) V472A probably benign Het
Plekha5 T A 6: 140,514,576 (GRCm39) L35* probably null Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp6r2 G A 15: 89,152,785 (GRCm39) E309K possibly damaging Het
Ptpn6 T A 6: 124,704,499 (GRCm39) probably null Het
Rasgrf1 T C 9: 89,882,824 (GRCm39) V882A probably benign Het
Ryr3 T G 2: 112,480,483 (GRCm39) E4335D probably benign Het
Slc12a5 T A 2: 164,835,958 (GRCm39) I892N probably damaging Het
Slc22a2 G A 17: 12,831,318 (GRCm39) M369I probably benign Het
Sox10 A T 15: 79,040,641 (GRCm39) Y300N probably damaging Het
Speg T C 1: 75,352,318 (GRCm39) F79L probably benign Het
Sult1b1 T A 5: 87,665,311 (GRCm39) I208L probably benign Het
Syt9 A G 7: 107,105,737 (GRCm39) N460S probably benign Het
Tecpr1 T A 5: 144,149,410 (GRCm39) N339I possibly damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Ttn T C 2: 76,725,105 (GRCm39) probably benign Het
Upk3bl G T 5: 136,086,185 (GRCm39) R40S probably benign Het
Usp28 T C 9: 48,912,824 (GRCm39) I25T probably damaging Het
Vmn2r27 A G 6: 124,177,583 (GRCm39) Y474H probably damaging Het
Vps13a A T 19: 16,712,246 (GRCm39) probably null Het
Wnt7b A G 15: 85,421,978 (GRCm39) F228S probably damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Zan T G 5: 137,406,659 (GRCm39) probably benign Het
Zfp760 A G 17: 21,942,559 (GRCm39) D578G possibly damaging Het
Zfyve19 T A 2: 119,041,266 (GRCm39) S61T probably benign Het
Zfyve9 T C 4: 108,575,866 (GRCm39) D405G 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCTCAGTGGCATATCACAGGC -3'
(R):5'- TCAGCATTCACTTAAGGTCACCTGAAC -3'

Sequencing Primer
(F):5'- GGTTCATTCGACTCTGACCATAG -3'
(R):5'- AGGTCACCTGAACATTTAATAAACAG -3'
Posted On 2013-10-16