Incidental Mutation 'R4521:Wdr36'
ID 334244
Institutional Source Beutler Lab
Gene Symbol Wdr36
Ensembl Gene ENSMUSG00000038299
Gene Name WD repeat domain 36
Synonyms 5730444A13Rik
MMRRC Submission 041764-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4521 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 32970241-33000008 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 32974201 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181632
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (49/49)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Bora G T 14: 99,305,984 (GRCm39) S451I probably damaging Het
Cadm3 A T 1: 173,172,630 (GRCm39) probably null Het
Car14 A G 3: 95,811,690 (GRCm39) probably benign Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cdc20b A G 13: 113,217,725 (GRCm39) I381M probably damaging Het
Col12a1 C T 9: 79,540,639 (GRCm39) V2449I probably benign Het
Crb2 T C 2: 37,685,349 (GRCm39) probably benign Het
Dcaf6 A T 1: 165,218,059 (GRCm39) D347E probably damaging Het
Dlgap2 G A 8: 14,777,871 (GRCm39) R372H probably damaging Het
Fat3 T C 9: 15,834,238 (GRCm39) N4118S probably null Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Fpr2 A C 17: 18,113,509 (GRCm39) R168S probably benign Het
Ghr A G 15: 3,355,440 (GRCm39) I281T probably damaging Het
Glmp C A 3: 88,235,346 (GRCm39) N259K possibly damaging Het
Grhl3 T C 4: 135,273,561 (GRCm39) K564E probably damaging Het
Helz2 T C 2: 180,870,626 (GRCm39) H2875R probably benign Het
Lcp1 A G 14: 75,452,608 (GRCm39) D438G possibly damaging Het
Lrfn2 T A 17: 49,376,922 (GRCm39) M1K probably null Het
Lrp6 A G 6: 134,462,825 (GRCm39) C612R probably damaging Het
Map3k13 T C 16: 21,724,525 (GRCm39) V341A possibly damaging Het
Megf8 T A 7: 25,042,126 (GRCm39) C1315S probably benign Het
Mrgpra9 A T 7: 46,884,938 (GRCm39) L243H probably damaging Het
Mrgprx1 T C 7: 47,671,447 (GRCm39) D100G probably benign Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Nup93 T C 8: 95,041,264 (GRCm39) Y801H probably damaging Het
Or51b6b C T 7: 103,309,539 (GRCm39) R306H probably benign Het
Or6c69b T A 10: 129,627,050 (GRCm39) N136I possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Plpp2 A G 10: 79,366,459 (GRCm39) Y118H probably damaging Het
Ppwd1 A G 13: 104,346,167 (GRCm39) V496A probably benign Het
Rbm20 A G 19: 53,805,633 (GRCm39) N466S probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Skida1 T C 2: 18,050,683 (GRCm39) probably benign Het
Stk17b A G 1: 53,803,197 (GRCm39) Y73H probably damaging Het
Tapbpl A G 6: 125,205,085 (GRCm39) I287T probably damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Topbp1 T C 9: 103,211,401 (GRCm39) probably benign Het
Tsen54 G A 11: 115,707,932 (GRCm39) probably null Het
Ttn G A 2: 76,555,560 (GRCm39) R28736* probably null 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
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
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'- GTGATATCTACTAGATGTCCAAATGCC -3'
(R):5'- AGTTTCCCCACAGCTAACAG -3'

Sequencing Primer
(F):5'- TTTCCCAATTTCTTAAAAAGCTTCTC -3'
(R):5'- AGCTAACAGCCCCTGATGG -3'
Posted On 2015-08-18