Incidental Mutation 'R0464:Wdr35'
ID 71447
Institutional Source Beutler Lab
Gene Symbol Wdr35
Ensembl Gene ENSMUSG00000066643
Gene Name WD repeat domain 35
Synonyms 4930459M12Rik
MMRRC Submission 038664-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0464 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 9023897-9078848 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 9077472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085741] [ENSMUST00000085745] [ENSMUST00000111113] [ENSMUST00000219470] [ENSMUST00000219488]
AlphaFold Q8BND3
Predicted Effect probably benign
Transcript: ENSMUST00000085741
SMART Domains Protein: ENSMUSP00000082891
Gene: ENSMUSG00000066637

DomainStartEndE-ValueType
Pfam:TPR_9 12 58 1.2e-2 PFAM
Pfam:TPR_12 51 121 1e-9 PFAM
Pfam:TPR_11 53 120 1.2e-14 PFAM
Pfam:TPR_1 55 88 3.5e-6 PFAM
Pfam:TPR_9 70 134 4.9e-7 PFAM
Pfam:TPR_1 90 122 1e-10 PFAM
Pfam:TPR_2 91 122 8.3e-11 PFAM
Pfam:TPR_8 91 122 2.5e-8 PFAM
Predicted Effect probably benign
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 benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161019
Predicted Effect probably benign
Transcript: ENSMUST00000219470
Predicted Effect probably benign
Transcript: ENSMUST00000219488
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,574,884 (GRCm39) Y84* probably null Het
Adar T A 3: 89,642,889 (GRCm39) C257S possibly damaging Het
Adgrd1 G T 5: 129,239,714 (GRCm39) C507F probably damaging Het
Atp5f1a T C 18: 77,867,622 (GRCm39) Y299H probably benign Het
Bok G T 1: 93,621,935 (GRCm39) R77L probably damaging Het
Cdx2 C A 5: 147,243,283 (GRCm39) K170N possibly damaging Het
Ceacam1 A G 7: 25,171,442 (GRCm39) S341P possibly damaging Het
Cfhr3 A T 1: 139,521,683 (GRCm39) noncoding transcript Het
Ckap5 A G 2: 91,409,858 (GRCm39) I947V probably benign Het
Clec2i T C 6: 128,872,386 (GRCm39) Y173H probably damaging Het
Cttnbp2 T C 6: 18,408,690 (GRCm39) D977G possibly damaging Het
Cyp2f2 C A 7: 26,831,962 (GRCm39) Q406K probably benign Het
Ddx28 A G 8: 106,736,685 (GRCm39) S458P probably damaging Het
Dppa3 T A 6: 122,605,492 (GRCm39) probably null Het
Dusp10 C A 1: 183,801,273 (GRCm39) L347I probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fbxl15 A T 19: 46,316,951 (GRCm39) E13D probably benign Het
Fhit T A 14: 10,991,567 (GRCm38) probably benign Het
Fras1 G T 5: 96,784,662 (GRCm39) V882F probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gabbr1 C T 17: 37,361,726 (GRCm39) probably benign Het
Ganc T A 2: 120,267,175 (GRCm39) V497D probably benign Het
Glt8d2 T G 10: 82,490,564 (GRCm39) H242P possibly damaging Het
Gna15 T C 10: 81,348,338 (GRCm39) Y131C probably benign Het
Gpatch8 T C 11: 102,371,712 (GRCm39) K609E unknown Het
Gprc5a A T 6: 135,056,413 (GRCm39) K287* probably null Het
Iqub T A 6: 24,479,262 (GRCm39) K427* probably null Het
Itpr2 C G 6: 146,277,387 (GRCm39) D666H probably damaging Het
Kcnj5 T C 9: 32,234,269 (GRCm39) I15M possibly damaging Het
Kcnn2 A G 18: 45,693,426 (GRCm39) E334G probably damaging Het
Lypd6 T A 2: 50,080,690 (GRCm39) I126N probably damaging Het
Ms4a20 A G 19: 11,089,801 (GRCm39) L28P probably damaging Het
Mtus1 T C 8: 41,455,511 (GRCm39) D56G probably damaging Het
Myo1h A G 5: 114,498,571 (GRCm39) D889G probably damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Nab1 T C 1: 52,529,174 (GRCm39) D241G possibly damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ncbp3 C T 11: 72,960,647 (GRCm39) probably benign Het
Nek1 T A 8: 61,525,307 (GRCm39) probably benign Het
Nf1 T C 11: 79,447,615 (GRCm39) V2452A probably benign Het
Nlrp1b A C 11: 71,109,070 (GRCm39) S144A probably damaging Het
Npr2 A T 4: 43,640,597 (GRCm39) probably null Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC "TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC" X: 142,526,889 (GRCm39) probably benign Het
Paox T A 7: 139,709,195 (GRCm39) probably benign Het
Pcdh15 T A 10: 74,462,676 (GRCm39) probably null Het
Pde8b G A 13: 95,241,206 (GRCm39) T202M probably damaging Het
Pigo A T 4: 43,019,814 (GRCm39) V905D probably benign Het
Pik3cb A G 9: 98,926,796 (GRCm39) probably null Het
Rassf5 T C 1: 131,139,998 (GRCm39) N87S probably benign Het
Rbl1 C A 2: 156,989,465 (GRCm39) K1051N probably damaging Het
Rfx7 T C 9: 72,525,486 (GRCm39) V892A probably damaging Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
Rnf144b T A 13: 47,396,363 (GRCm39) Y233* probably null Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sbf2 T C 7: 110,063,783 (GRCm39) probably benign Het
Sgo2a A T 1: 58,039,253 (GRCm39) K85N probably damaging Het
Siglec1 A T 2: 130,921,279 (GRCm39) C631S probably damaging Het
Simc1 C T 13: 54,684,913 (GRCm39) R50* probably null Het
Skint5 T A 4: 113,392,928 (GRCm39) M1235L unknown Het
Slc22a19 A T 19: 7,660,278 (GRCm39) N377K probably benign Het
Spata31d1a A G 13: 59,849,573 (GRCm39) F852L possibly damaging Het
Spata31e3 A G 13: 50,402,311 (GRCm39) probably benign Het
Srbd1 G A 17: 86,427,430 (GRCm39) S401F probably damaging Het
Stk36 C A 1: 74,650,331 (GRCm39) Q288K probably damaging Het
Styx T C 14: 45,609,908 (GRCm39) S191P probably benign Het
Supt6 T A 11: 78,107,164 (GRCm39) N1214I probably benign Het
Tcim T A 8: 24,928,644 (GRCm39) D90V probably damaging Het
Tdpoz1 T A 3: 93,578,782 (GRCm39) M1L probably damaging Het
Tep1 T A 14: 51,085,141 (GRCm39) T881S probably benign Het
Tlr5 C T 1: 182,801,275 (GRCm39) A193V probably benign Het
Tmem117 T A 15: 94,612,800 (GRCm39) F112Y probably damaging Het
Tnrc6c C T 11: 117,651,375 (GRCm39) R1633W probably damaging Het
Trh T C 6: 92,220,649 (GRCm39) probably null Het
Triobp A G 15: 78,851,186 (GRCm39) R447G possibly damaging Het
Trip6 A G 5: 137,311,943 (GRCm39) F46S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Usp33 T C 3: 152,081,872 (GRCm39) probably benign Het
Vmn2r60 A T 7: 41,785,255 (GRCm39) I156F probably damaging Het
Wdr17 T C 8: 55,123,427 (GRCm39) probably benign Het
Wwp1 C T 4: 19,638,763 (GRCm39) probably benign Het
Zfp652 T C 11: 95,654,475 (GRCm39) C293R probably 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
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
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'- AGTTCACCTTGTCTGGAATGCCAC -3'
(R):5'- GCTCTGCACTGAGCGTCTCTAAAG -3'

Sequencing Primer
(F):5'- CAGTATGGAAACCATTCGGTCTG -3'
(R):5'- CTGAGCGTCTCTAAAGATTCCAG -3'
Posted On 2013-09-30