Incidental Mutation 'R6746:Wdr35'
ID 532851
Institutional Source Beutler Lab
Gene Symbol Wdr35
Ensembl Gene ENSMUSG00000066643
Gene Name WD repeat domain 35
Synonyms 4930459M12Rik
MMRRC Submission 044863-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6746 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 9023897-9078848 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 9053982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085745] [ENSMUST00000111113]
AlphaFold Q8BND3
Predicted Effect probably null
Transcript: ENSMUST00000085745
SMART Domains Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643

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 null
Transcript: ENSMUST00000111113
SMART Domains Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,565,195 (GRCm39) L79* probably null Het
Acot3 A G 12: 84,100,248 (GRCm39) N8S probably benign Het
Adora2a T C 10: 75,169,442 (GRCm39) V302A probably benign Het
Anpep A C 7: 79,488,933 (GRCm39) probably null Het
Arrb1 A G 7: 99,250,357 (GRCm39) K392E probably benign Het
Atp8a1 A T 5: 67,908,392 (GRCm39) N444K probably benign Het
Bltp3b T A 10: 89,623,020 (GRCm39) N298K probably benign Het
Brinp2 C T 1: 158,094,160 (GRCm39) G181R probably benign Het
Cacna1g A T 11: 94,300,253 (GRCm39) C2184* probably null Het
Cacna1h C T 17: 25,600,524 (GRCm39) A1606T probably damaging Het
Ccdc30 T C 4: 119,213,915 (GRCm39) T205A probably benign Het
Celsr1 A G 15: 85,915,696 (GRCm39) I759T probably damaging Het
Chaf1a A G 17: 56,370,404 (GRCm39) D623G possibly damaging Het
Col6a3 G T 1: 90,706,767 (GRCm39) N2115K unknown Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Erich6 T C 3: 58,523,987 (GRCm39) D629G possibly damaging Het
Fahd1 G T 17: 25,068,915 (GRCm39) A54E probably damaging Het
Flrt3 C T 2: 140,501,945 (GRCm39) R561Q probably damaging Het
Grm6 A T 11: 50,747,790 (GRCm39) D334V probably damaging Het
Helb A T 10: 119,941,373 (GRCm39) D438E probably damaging Het
Hmgcs1 T C 13: 120,156,585 (GRCm39) probably null Het
Hnf4g C A 3: 3,722,170 (GRCm39) Y441* probably null Het
Hspa13 A T 16: 75,561,925 (GRCm39) N91K possibly damaging Het
Ilvbl T C 10: 78,413,057 (GRCm39) I193T possibly damaging Het
Itga7 T C 10: 128,785,341 (GRCm39) V848A probably benign Het
Kash5 C T 7: 44,849,735 (GRCm39) V63I probably benign Het
Lpin1 A G 12: 16,615,529 (GRCm39) M341T probably benign Het
Lypd5 G T 7: 24,052,531 (GRCm39) probably null Het
Mrgprb1 A C 7: 48,097,645 (GRCm39) V89G possibly damaging Het
Nsun7 T C 5: 66,441,080 (GRCm39) probably null Het
Oasl1 T A 5: 115,075,242 (GRCm39) V434E probably damaging Het
Or2ak6 G A 11: 58,593,369 (GRCm39) V281I probably benign Het
Or7g22 A G 9: 19,048,774 (GRCm39) M162V probably benign Het
Or8k16 T C 2: 85,519,952 (GRCm39) Y60H probably damaging Het
Otor T A 2: 142,921,955 (GRCm39) probably null Het
Pik3cg G A 12: 32,244,757 (GRCm39) T899M probably damaging Het
Plaat5 A G 19: 7,590,695 (GRCm39) D74G probably benign Het
Pld2 C A 11: 70,431,933 (GRCm39) L52M probably damaging Het
Pon3 A T 6: 5,230,786 (GRCm39) M247K possibly damaging Het
Ppfia2 C A 10: 106,742,319 (GRCm39) Y1037* probably null Het
Ppm1m A T 9: 106,075,351 (GRCm39) C99* probably null Het
Prss44 A T 9: 110,644,361 (GRCm39) *145C probably null Het
Ptpro T A 6: 137,371,821 (GRCm39) Y613N probably damaging Het
Ralgapb T G 2: 158,318,056 (GRCm39) V866G probably damaging Het
Rassf6 C A 5: 90,757,633 (GRCm39) R109L possibly damaging Het
Rbm4b A C 19: 4,812,031 (GRCm39) T147P probably benign Het
Rpl7l1 T C 17: 47,090,322 (GRCm39) K104R probably benign Het
Ryr1 A T 7: 28,816,829 (GRCm39) I69N possibly damaging Het
Scd1 G T 19: 44,394,927 (GRCm39) F99L probably benign Het
Semp2l1 A T 1: 32,585,844 (GRCm39) I22N probably benign Het
Spint2 A T 7: 28,958,848 (GRCm39) S66T probably benign Het
Tarm1 T A 7: 3,550,978 (GRCm39) I2F probably benign Het
Tenm4 T C 7: 96,542,067 (GRCm39) V1860A probably damaging Het
Usp38 A G 8: 81,740,920 (GRCm39) I49T possibly damaging Het
Vars2 A G 17: 35,971,294 (GRCm39) probably null Het
Vmn2r27 T G 6: 124,177,552 (GRCm39) H484P possibly damaging Het
Zfp937 A T 2: 150,081,343 (GRCm39) K458* probably null 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
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
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'- TCTTGATCCTTGTACATCGCAG -3'
(R):5'- TGTCTGGATCCAATACGGTATAG -3'

Sequencing Primer
(F):5'- GCCTGATTTGAGAGACTGT -3'
(R):5'- GCTTCTTTGCCACACGAT -3'
Posted On 2018-08-29