Incidental Mutation 'R4656:Wdr35'
ID 352459
Institutional Source Beutler Lab
Gene Symbol Wdr35
Ensembl Gene ENSMUSG00000066643
Gene Name WD repeat domain 35
Synonyms 4930459M12Rik
MMRRC Submission 041916-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4656 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 9023897-9078848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9066619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 749 (M749K)
Ref Sequence ENSEMBL: ENSMUSP00000106742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085745] [ENSMUST00000111113]
AlphaFold Q8BND3
Predicted Effect probably benign
Transcript: ENSMUST00000085745
AA Change: M760K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: M760K

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: M749K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: M749K

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: ENSMUST00000161019
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (80/83)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G A 5: 88,112,534 (GRCm39) probably benign Het
4931406B18Rik T A 7: 43,150,565 (GRCm39) H69L probably benign Het
Ace2 T C X: 162,936,110 (GRCm39) S84P probably benign Het
Adgb A C 10: 10,281,050 (GRCm39) N656K probably damaging Het
Ago3 G T 4: 126,257,545 (GRCm39) Y495* probably null Het
Ahnak G A 19: 8,982,219 (GRCm39) V1168M possibly damaging Het
Armc10 A G 5: 21,866,548 (GRCm39) R271G probably benign Het
Atp4a T G 7: 30,419,373 (GRCm39) probably benign Het
Casp1 C T 9: 5,304,324 (GRCm39) P333S probably damaging Het
Ceacam9 C T 7: 16,457,574 (GRCm39) A34V probably benign Het
Ces1b C G 8: 93,784,042 (GRCm39) E488Q probably damaging Het
Ces2h A T 8: 105,741,271 (GRCm39) T88S possibly damaging Het
Cfap410 G A 10: 77,817,450 (GRCm39) R59H probably benign Het
Col2a1 C T 15: 97,874,057 (GRCm39) G1375D unknown Het
Cyp1a1 T C 9: 57,609,893 (GRCm39) F436L probably damaging Het
Dcaf7 T C 11: 105,944,624 (GRCm39) V269A probably damaging Het
Disp2 T C 2: 118,621,044 (GRCm39) L592P probably damaging Het
Eda2r T A X: 96,385,239 (GRCm39) Q171L probably damaging Het
Egln2 A G 7: 26,858,618 (GRCm39) V408A probably benign Het
Gabpb2 A G 3: 95,096,252 (GRCm39) L325P probably damaging Het
Gigyf1 C A 5: 137,523,477 (GRCm39) Y936* probably null Het
Gm14149 A T 2: 151,072,684 (GRCm39) noncoding transcript Het
Gnl2 C T 4: 124,934,790 (GRCm39) Q149* probably null Het
Gpr107 C T 2: 31,104,261 (GRCm39) T522M probably damaging Het
Grpr T A X: 162,297,992 (GRCm39) S351C probably damaging Het
Gsdma T C 11: 98,563,907 (GRCm39) L287P probably damaging Het
Herc1 A G 9: 66,301,993 (GRCm39) T652A probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Irx2 T C 13: 72,779,417 (GRCm39) S234P probably damaging Het
Itgal T A 7: 126,921,725 (GRCm39) D808E probably damaging Het
Krt13 C A 11: 100,010,189 (GRCm39) R264L probably damaging Het
Marchf1 T A 8: 66,839,071 (GRCm39) L38I probably benign Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Mif4gd G T 11: 115,499,163 (GRCm39) probably benign Het
Mroh9 A T 1: 162,893,593 (GRCm39) M194K probably damaging Het
Nhlrc3 A G 3: 53,370,501 (GRCm39) S22P probably damaging Het
Nipal2 A T 15: 34,577,714 (GRCm39) probably null Het
Nr1h4 A G 10: 89,334,115 (GRCm39) S78P probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Olfr908 A T 9: 38,427,852 (GRCm39) N175Y probably damaging Het
Or1e30 A T 11: 73,678,337 (GRCm39) D191V probably damaging Het
Or52d13 C T 7: 103,109,695 (GRCm39) R235Q probably benign Het
Pdzd2 A G 15: 12,385,797 (GRCm39) V991A probably benign Het
Pex1 G A 5: 3,654,880 (GRCm39) probably null Het
Plch1 G T 3: 63,611,598 (GRCm39) A859E probably damaging Het
Pramel32 T C 4: 88,548,202 (GRCm39) T68A probably benign Het
Ranbp2 A G 10: 58,289,244 (GRCm39) K84R possibly damaging Het
Rbm14 T C 19: 4,861,463 (GRCm39) Y25C probably damaging Het
Rmi2 A G 16: 10,653,186 (GRCm39) D78G probably damaging Het
Serpina3k C A 12: 104,311,532 (GRCm39) T370K probably damaging Het
Shc2 A T 10: 79,457,003 (GRCm39) L538M probably damaging Het
Skint1 A G 4: 111,878,674 (GRCm39) K202R probably damaging Het
Slc22a29 C A 19: 8,195,664 (GRCm39) S125I possibly damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slco4c1 A T 1: 96,768,970 (GRCm39) D297E probably benign Het
Slco6d1 T C 1: 98,350,928 (GRCm39) F136S probably benign Het
Smg1 A T 7: 117,812,174 (GRCm39) V39E probably benign Het
Spns1 G T 7: 125,973,474 (GRCm39) probably benign Het
Spsb1 A G 4: 149,990,867 (GRCm39) probably null Het
Sspo T G 6: 48,431,010 (GRCm39) I631S possibly damaging Het
Syne2 T C 12: 76,078,147 (GRCm39) L4694P probably damaging Het
Taf5l T C 8: 124,724,844 (GRCm39) E325G probably benign Het
Tars1 A T 15: 11,394,350 (GRCm39) S96T probably damaging Het
Tdrd12 T C 7: 35,184,679 (GRCm39) K745E probably damaging Het
Tenm3 A G 8: 48,746,761 (GRCm39) Y1015H probably damaging Het
Trpv3 T A 11: 73,186,240 (GRCm39) M677K probably damaging Het
Txlnb A T 10: 17,691,024 (GRCm39) K191N probably damaging Het
Ubr1 A G 2: 120,756,494 (GRCm39) V711A probably benign Het
Uqcrb T C 13: 67,049,603 (GRCm39) T41A probably benign Het
Usp6nl A G 2: 6,445,973 (GRCm39) Y627C probably damaging Het
Vezf1 A G 11: 87,965,493 (GRCm39) D245G probably damaging Het
Vmn2r66 A G 7: 84,661,204 (GRCm39) W9R possibly damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Wrn A T 8: 33,826,019 (GRCm39) probably null Het
Zfy1 T G Y: 729,626 (GRCm39) T339P unknown 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
R1893:Wdr35 UTSW 12 9,035,994 (GRCm39) missense probably benign
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
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'- CTGAAGCTGCTCTCCAGAAG -3'
(R):5'- TGTTGTCATGGAATAACACATGGAG -3'

Sequencing Primer
(F):5'- AGAAGCTGGACCTGTACACCG -3'
(R):5'- TTCAAGCTCCAGGTGCAATG -3'
Posted On 2015-10-08