Incidental Mutation 'R1893:Wdr35'
ID 211732
Institutional Source Beutler Lab
Gene Symbol Wdr35
Ensembl Gene ENSMUSG00000066643
Gene Name WD repeat domain 35
Synonyms 4930459M12Rik
MMRRC Submission 039913-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1893 (G1)
Quality Score 219
Status Validated
Chromosome 12
Chromosomal Location 9023897-9078848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 9035994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 255 (Y255S)
Ref Sequence ENSEMBL: ENSMUSP00000106742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085745] [ENSMUST00000111113] [ENSMUST00000160329]
AlphaFold Q8BND3
Predicted Effect probably benign
Transcript: ENSMUST00000085745
AA Change: Y255S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: Y255S

DomainStartEndE-ValueType
WD40 5 42 8.25e0 SMART
WD40 60 99 3.21e-1 SMART
WD40 104 143 2.21e1 SMART
WD40 147 184 1.06e2 SMART
Blast:WD40 246 289 6e-18 BLAST
Blast:WD40 292 330 2e-12 BLAST
Blast:WD40 465 530 4e-15 BLAST
Blast:WD40 533 571 1e-14 BLAST
low complexity region 1069 1078 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111113
AA Change: Y255S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: Y255S

DomainStartEndE-ValueType
WD40 5 42 8.25e0 SMART
WD40 60 99 3.21e-1 SMART
WD40 104 143 2.21e1 SMART
WD40 147 184 1.06e2 SMART
Blast:WD40 246 289 6e-18 BLAST
Blast:WD40 292 330 2e-12 BLAST
Blast:WD40 454 519 4e-15 BLAST
Blast:WD40 522 560 2e-14 BLAST
low complexity region 1058 1067 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159126
Predicted Effect probably benign
Transcript: ENSMUST00000160329
SMART Domains Protein: ENSMUSP00000124285
Gene: ENSMUSG00000066643

DomainStartEndE-ValueType
WD40 5 42 8.25e0 SMART
WD40 60 99 3.21e-1 SMART
WD40 104 143 2.21e1 SMART
low complexity region 172 186 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161019
Meta Mutation Damage Score 0.1089 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 99% (99/100)
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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,415,928 (GRCm39) Y674H possibly damaging Het
Aars2 G A 17: 45,825,725 (GRCm39) R347Q probably benign Het
Abca15 A T 7: 119,939,776 (GRCm39) M293L possibly damaging Het
Abcb7 A T X: 103,386,142 (GRCm39) H97Q probably damaging Het
Aldh1l2 G T 10: 83,328,400 (GRCm39) N772K probably damaging Het
Ascc2 T A 11: 4,622,305 (GRCm39) L457Q probably benign Het
Aspm T A 1: 139,407,605 (GRCm39) I2164N probably damaging Het
Cabs1 A G 5: 88,127,894 (GRCm39) T182A probably benign Het
Carmil1 T C 13: 24,208,446 (GRCm39) E833G possibly damaging Het
Ccdc102a G A 8: 95,640,171 (GRCm39) T41M probably damaging Het
Cimap1c A G 9: 56,756,498 (GRCm39) Y173H probably benign Het
Clec2h T C 6: 128,647,795 (GRCm39) V48A probably benign Het
Cpb2 G A 14: 75,493,403 (GRCm39) V27I probably benign Het
Cr2 T C 1: 194,837,495 (GRCm39) H1201R probably benign Het
Cyp2d9 T C 15: 82,336,807 (GRCm39) V52A probably damaging Het
Cyp4a12a C A 4: 115,183,864 (GRCm39) N223K probably benign Het
Cyp7b1 G A 3: 18,150,731 (GRCm39) S336L possibly damaging Het
Dnah10 T C 5: 124,831,381 (GRCm39) V803A probably benign Het
Dnah17 T A 11: 117,957,794 (GRCm39) T2745S probably benign Het
Ep300 T A 15: 81,515,847 (GRCm39) probably benign Het
Epha3 A G 16: 63,388,762 (GRCm39) S829P probably damaging Het
Fads3 C A 19: 10,033,868 (GRCm39) H418N probably benign Het
Fat1 T C 8: 45,476,893 (GRCm39) S1980P probably damaging Het
Fgf20 T C 8: 40,732,844 (GRCm39) E198G possibly damaging Het
Fgl2 G A 5: 21,580,669 (GRCm39) R337H probably benign Het
Gbp2 G T 3: 142,335,933 (GRCm39) probably benign Het
Gja10 G A 4: 32,601,541 (GRCm39) S281L probably benign Het
Gm5422 G A 10: 31,125,609 (GRCm39) noncoding transcript Het
Gmpr T A 13: 45,674,423 (GRCm39) D129E possibly damaging Het
Gtf3c4 C T 2: 28,724,374 (GRCm39) V453I possibly damaging Het
Heatr6 T C 11: 83,648,140 (GRCm39) V111A probably benign Het
Hipk3 G A 2: 104,263,601 (GRCm39) R905W probably damaging Het
Hpn T A 7: 30,798,773 (GRCm39) D103V probably damaging Het
Ipcef1 G A 10: 6,850,680 (GRCm39) R304W probably damaging Het
Iqcb1 A G 16: 36,652,245 (GRCm39) D52G probably damaging Het
Klhdc7b C T 15: 89,271,898 (GRCm39) probably null Het
Klhl1 A T 14: 96,477,642 (GRCm39) probably null Het
Lrrn1 A T 6: 107,545,083 (GRCm39) I294F possibly damaging Het
Map3k1 A T 13: 111,904,567 (GRCm39) F406I possibly damaging Het
Map4k4 T A 1: 40,040,717 (GRCm39) V579E probably benign Het
Mapre2 A G 18: 23,986,774 (GRCm39) K62R probably damaging Het
Mdga1 A T 17: 30,068,200 (GRCm39) Y305N probably damaging Het
Mgl2 T A 11: 70,024,993 (GRCm39) probably null Het
Mnx1 C T 5: 29,682,828 (GRCm39) G149D unknown Het
Mtbp T A 15: 55,421,064 (GRCm39) S17T probably benign Het
Neu3 T C 7: 99,472,627 (GRCm39) T37A possibly damaging Het
Nr1i3 T C 1: 171,044,792 (GRCm39) probably null Het
Or10al2 A T 17: 37,983,747 (GRCm39) K278* probably null Het
Or10g6 A T 9: 39,934,270 (GRCm39) I194F possibly damaging Het
Or6ae1 T C 7: 139,742,734 (GRCm39) N43S probably damaging Het
Or9s18 T A 13: 65,300,806 (GRCm39) M256K possibly damaging Het
Osr2 A G 15: 35,300,608 (GRCm39) T55A possibly damaging Het
Palld A G 8: 61,969,655 (GRCm39) V981A probably damaging Het
Pbx1 A T 1: 168,030,979 (GRCm39) M213K possibly damaging Het
Pcdhb12 C A 18: 37,570,136 (GRCm39) H427Q probably benign Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Phaf1 G T 8: 105,973,133 (GRCm39) V248F probably damaging Het
Polm T C 11: 5,785,574 (GRCm39) T162A possibly damaging Het
Prox1 A G 1: 189,892,715 (GRCm39) probably benign Het
Ptpn7 A T 1: 135,062,641 (GRCm39) T127S probably benign Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rab21 T C 10: 115,126,805 (GRCm39) T181A probably benign Het
Rab38 A T 7: 88,139,924 (GRCm39) T198S probably benign Het
Rnase4 C G 14: 51,342,395 (GRCm39) Q40E possibly damaging Het
Rnf213 T A 11: 119,307,274 (GRCm39) W645R probably damaging Het
Rnf8 A G 17: 29,840,524 (GRCm39) I51M probably damaging Het
Sbpl T A 17: 24,172,241 (GRCm39) D226V unknown Het
Sdf4 T G 4: 156,085,205 (GRCm39) I180S probably benign Het
Simc1 A G 13: 54,687,528 (GRCm39) K99R probably damaging Het
Slc2a4 T C 11: 69,837,398 (GRCm39) Q49R probably damaging Het
Slco1a4 T C 6: 141,780,342 (GRCm39) probably null Het
Slco5a1 C A 1: 12,964,696 (GRCm39) C527F probably damaging Het
Sox6 T A 7: 115,143,803 (GRCm39) N405I probably benign Het
Sphkap G A 1: 83,256,687 (GRCm39) P354L probably benign Het
Spi1 A G 2: 90,944,702 (GRCm39) D149G probably benign Het
Sptan1 T A 2: 29,910,472 (GRCm39) D1812E probably damaging Het
Sub1 A T 15: 11,991,130 (GRCm39) V37E possibly damaging Het
Sult2a6 T C 7: 13,959,814 (GRCm39) T240A probably benign Het
Tacc2 A G 7: 130,227,055 (GRCm39) S1247G probably benign Het
Taf4 T C 2: 179,574,823 (GRCm39) D594G probably damaging Het
Tap1 T G 17: 34,413,915 (GRCm39) D643E probably damaging Het
Ticam1 T C 17: 56,578,894 (GRCm39) N67S probably benign Het
Tlr6 A G 5: 65,110,556 (GRCm39) F784L probably damaging Het
Tmprss15 A G 16: 78,868,306 (GRCm39) V202A probably benign Het
Trp53bp2 T C 1: 182,259,193 (GRCm39) V82A probably benign Het
Ube2o C T 11: 116,439,661 (GRCm39) V170I possibly damaging Het
Ube2q2l A G 6: 136,378,825 (GRCm39) S2P possibly damaging Het
Vmn1r177 G A 7: 23,565,573 (GRCm39) T101I probably benign Het
Vmn2r68 A T 7: 84,883,867 (GRCm39) Y79* probably null Het
Zfp507 A T 7: 35,502,052 (GRCm39) probably benign Het
Zfp688 G A 7: 127,018,409 (GRCm39) R239C probably damaging Het
Zfp74 T A 7: 29,635,470 (GRCm39) probably null Het
Zfp932 A G 5: 110,157,069 (GRCm39) N223D possibly damaging Het
Other mutations in Wdr35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Wdr35 APN 12 9,069,900 (GRCm39) missense probably benign
IGL00962:Wdr35 APN 12 9,071,726 (GRCm39) splice site probably benign
IGL01094:Wdr35 APN 12 9,055,838 (GRCm39) splice site probably benign
IGL01312:Wdr35 APN 12 9,058,655 (GRCm39) missense probably damaging 1.00
IGL01397:Wdr35 APN 12 9,058,550 (GRCm39) missense probably benign 0.04
IGL01490:Wdr35 APN 12 9,027,381 (GRCm39) missense probably damaging 0.98
IGL02153:Wdr35 APN 12 9,058,535 (GRCm39) missense probably null 0.04
IGL02319:Wdr35 APN 12 9,077,480 (GRCm39) unclassified probably benign
IGL02548:Wdr35 APN 12 9,074,297 (GRCm39) missense probably benign 0.00
IGL02941:Wdr35 APN 12 9,077,507 (GRCm39) missense probably damaging 0.98
IGL03038:Wdr35 APN 12 9,024,185 (GRCm39) splice site probably benign
IGL03086:Wdr35 APN 12 9,058,692 (GRCm39) splice site probably null
IGL03207:Wdr35 APN 12 9,039,936 (GRCm39) missense probably damaging 0.98
IGL03327:Wdr35 APN 12 9,028,694 (GRCm39) splice site probably benign
R0362:Wdr35 UTSW 12 9,045,625 (GRCm39) unclassified probably benign
R0464:Wdr35 UTSW 12 9,077,472 (GRCm39) unclassified probably benign
R0487:Wdr35 UTSW 12 9,062,743 (GRCm39) critical splice donor site probably null
R0976:Wdr35 UTSW 12 9,036,104 (GRCm39) missense probably benign 0.03
R1349:Wdr35 UTSW 12 9,069,870 (GRCm39) splice site probably benign
R1663:Wdr35 UTSW 12 9,070,000 (GRCm39) missense probably benign 0.00
R1769:Wdr35 UTSW 12 9,062,728 (GRCm39) missense probably damaging 1.00
R1779:Wdr35 UTSW 12 9,035,772 (GRCm39) missense possibly damaging 0.62
R1789:Wdr35 UTSW 12 9,027,435 (GRCm39) critical splice donor site probably null
R2076:Wdr35 UTSW 12 9,074,281 (GRCm39) missense possibly damaging 0.88
R2228:Wdr35 UTSW 12 9,024,955 (GRCm39) missense possibly damaging 0.65
R2280:Wdr35 UTSW 12 9,028,628 (GRCm39) missense probably benign 0.01
R2281:Wdr35 UTSW 12 9,028,628 (GRCm39) missense probably benign 0.01
R2863:Wdr35 UTSW 12 9,078,060 (GRCm39) nonsense probably null
R3713:Wdr35 UTSW 12 9,077,648 (GRCm39) missense possibly damaging 0.68
R3911:Wdr35 UTSW 12 9,036,077 (GRCm39) missense probably benign
R3934:Wdr35 UTSW 12 9,058,014 (GRCm39) missense probably damaging 1.00
R4360:Wdr35 UTSW 12 9,024,149 (GRCm39) utr 5 prime probably benign
R4402:Wdr35 UTSW 12 9,039,981 (GRCm39) missense probably damaging 0.98
R4473:Wdr35 UTSW 12 9,065,995 (GRCm39) missense probably benign 0.00
R4656:Wdr35 UTSW 12 9,066,619 (GRCm39) missense probably benign 0.00
R4780:Wdr35 UTSW 12 9,068,150 (GRCm39) missense probably benign
R5092:Wdr35 UTSW 12 9,037,327 (GRCm39) missense probably damaging 1.00
R5160:Wdr35 UTSW 12 9,058,487 (GRCm39) missense probably damaging 0.99
R5184:Wdr35 UTSW 12 9,068,142 (GRCm39) missense probably damaging 1.00
R5346:Wdr35 UTSW 12 9,028,684 (GRCm39) missense probably benign 0.00
R5435:Wdr35 UTSW 12 9,039,951 (GRCm39) missense probably benign 0.01
R5472:Wdr35 UTSW 12 9,066,619 (GRCm39) missense probably benign 0.00
R5682:Wdr35 UTSW 12 9,031,125 (GRCm39) missense probably damaging 1.00
R5801:Wdr35 UTSW 12 9,056,723 (GRCm39) missense possibly damaging 0.92
R5990:Wdr35 UTSW 12 9,066,511 (GRCm39) missense probably damaging 1.00
R6196:Wdr35 UTSW 12 9,077,632 (GRCm39) missense probably benign 0.05
R6531:Wdr35 UTSW 12 9,028,685 (GRCm39) missense probably benign 0.00
R6746:Wdr35 UTSW 12 9,053,982 (GRCm39) splice site probably null
R6816:Wdr35 UTSW 12 9,077,724 (GRCm39) critical splice donor site probably null
R6863:Wdr35 UTSW 12 9,040,047 (GRCm39) missense probably damaging 0.97
R7088:Wdr35 UTSW 12 9,028,659 (GRCm39) missense probably benign 0.11
R7140:Wdr35 UTSW 12 9,072,785 (GRCm39) missense probably damaging 0.98
R7327:Wdr35 UTSW 12 9,037,312 (GRCm39) missense probably benign 0.10
R7403:Wdr35 UTSW 12 9,062,685 (GRCm39) missense probably damaging 0.98
R7422:Wdr35 UTSW 12 9,054,105 (GRCm39) missense probably benign 0.00
R7438:Wdr35 UTSW 12 9,072,785 (GRCm39) missense probably damaging 0.98
R7466:Wdr35 UTSW 12 9,055,773 (GRCm39) missense probably benign
R7491:Wdr35 UTSW 12 9,036,000 (GRCm39) missense probably benign 0.00
R7599:Wdr35 UTSW 12 9,074,886 (GRCm39) missense probably benign 0.01
R7620:Wdr35 UTSW 12 9,066,042 (GRCm39) missense probably benign 0.04
R7857:Wdr35 UTSW 12 9,058,113 (GRCm39) critical splice donor site probably null
R8289:Wdr35 UTSW 12 9,058,020 (GRCm39) missense probably benign 0.00
R8302:Wdr35 UTSW 12 9,078,110 (GRCm39) missense probably benign 0.09
R8433:Wdr35 UTSW 12 9,058,495 (GRCm39) missense probably damaging 1.00
R8479:Wdr35 UTSW 12 9,035,985 (GRCm39) missense probably benign 0.04
R8498:Wdr35 UTSW 12 9,058,626 (GRCm39) missense probably damaging 0.97
R8721:Wdr35 UTSW 12 9,075,044 (GRCm39) critical splice donor site probably null
R9220:Wdr35 UTSW 12 9,036,000 (GRCm39) missense possibly damaging 0.49
R9368:Wdr35 UTSW 12 9,071,826 (GRCm39) missense probably benign 0.00
R9573:Wdr35 UTSW 12 9,078,014 (GRCm39) missense probably benign 0.00
R9596:Wdr35 UTSW 12 9,036,092 (GRCm39) missense probably benign 0.08
R9773:Wdr35 UTSW 12 9,039,990 (GRCm39) missense probably benign 0.03
X0066:Wdr35 UTSW 12 9,040,029 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGCCAAATAATGCGGCATGAG -3'
(R):5'- TTCCCTGATTACGGCTGTGC -3'

Sequencing Primer
(F):5'- TGCGGCATGAGAATGACC -3'
(R):5'- GGCTGTGCCTGATGGAAATG -3'
Posted On 2014-06-30