Incidental Mutation 'R2076:Wdr35'
ID 229173
Institutional Source Beutler Lab
Gene Symbol Wdr35
Ensembl Gene ENSMUSG00000066643
Gene Name WD repeat domain 35
Synonyms 4930459M12Rik
MMRRC Submission 040081-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2076 (G1)
Quality Score 222
Status Validated
Chromosome 12
Chromosomal Location 9023897-9078848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 9074281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 971 (H971Y)
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: H982Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: H982Y

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 possibly damaging
Transcript: ENSMUST00000111113
AA Change: H971Y

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: H971Y

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
Meta Mutation Damage Score 0.0751 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (61/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,178,478 (GRCm39) V1165D probably benign Het
Acot11 T C 4: 106,627,910 (GRCm39) H103R probably damaging Het
Apba1 G T 19: 23,870,587 (GRCm39) E140* probably null Het
Bicdl1 A T 5: 115,793,987 (GRCm39) I253N probably damaging Het
Ccdc159 T C 9: 21,840,802 (GRCm39) probably null Het
Ccne2 A G 4: 11,197,177 (GRCm39) R160G probably damaging Het
Cct7 A T 6: 85,445,122 (GRCm39) I458F probably damaging Het
Cd3g T A 9: 44,885,595 (GRCm39) D50V probably damaging Het
Ces2h T C 8: 105,745,660 (GRCm39) L461P probably benign Het
Cplane1 T A 15: 8,248,741 (GRCm39) D1763E possibly damaging Het
Csn2 A G 5: 87,844,033 (GRCm39) S19P probably damaging Het
Cyp3a11 A T 5: 145,816,576 (GRCm39) V4D probably benign Het
Ddx3y A G Y: 1,266,593 (GRCm39) probably null Het
Dipk1c G T 18: 84,755,033 (GRCm39) D170Y probably damaging Het
Dlgap1 C T 17: 71,093,826 (GRCm39) Q716* probably null Het
Dlx6 A G 6: 6,867,098 (GRCm39) S234G probably benign Het
Dnah7a T C 1: 53,542,968 (GRCm39) T2401A probably benign Het
Dnah7b T G 1: 46,281,481 (GRCm39) Y2847* probably null Het
Dpysl2 A G 14: 67,102,571 (GRCm39) S30P probably damaging Het
Elp1 T C 4: 56,786,620 (GRCm39) D441G probably damaging Het
Ezh2 A T 6: 47,553,567 (GRCm39) L50* probably null Het
Fam135b T A 15: 71,350,092 (GRCm39) E349D probably damaging Het
Foxl3 A G 5: 138,807,022 (GRCm39) D100G probably benign Het
Frat2 T C 19: 41,836,242 (GRCm39) T37A probably benign Het
Hivep1 G A 13: 42,317,869 (GRCm39) probably null Het
Ift25 T C 4: 107,136,964 (GRCm39) S121P possibly damaging Het
Impdh1 G A 6: 29,205,162 (GRCm39) A213V probably damaging Het
Irf2 G T 8: 47,298,962 (GRCm39) W252L probably damaging Het
Irx4 A G 13: 73,416,384 (GRCm39) D260G probably damaging Het
Kalrn T A 16: 34,152,513 (GRCm39) H338L probably benign Het
Kif9 T A 9: 110,314,100 (GRCm39) probably null Het
Klhl24 T C 16: 19,936,628 (GRCm39) V412A probably damaging Het
Lgals8 T A 13: 12,469,750 (GRCm39) K70* probably null Het
Mrtfb T C 16: 13,219,246 (GRCm39) S631P probably benign Het
Myo1e T A 9: 70,291,159 (GRCm39) N983K probably benign Het
Nipbl T C 15: 8,340,691 (GRCm39) R2010G probably benign Het
Npw A T 17: 24,876,413 (GRCm39) V166D possibly damaging Het
Osbpl5 T C 7: 143,262,881 (GRCm39) Y169C probably damaging Het
Pcdh15 T C 10: 74,178,479 (GRCm39) Y579H probably damaging Het
Pde8a A G 7: 80,958,693 (GRCm39) T330A probably benign Het
Plxnb2 C T 15: 89,042,229 (GRCm39) V1592M probably damaging Het
Ppp2r3d A C 9: 101,021,570 (GRCm39) M955R possibly damaging Het
Ptprk T A 10: 28,465,364 (GRCm39) I1349K probably damaging Het
Rad52 C T 6: 119,888,040 (GRCm39) H9Y probably benign Het
Rapgef1 A G 2: 29,592,520 (GRCm39) Q466R probably benign Het
Rb1cc1 T A 1: 6,320,262 (GRCm39) I1227N possibly damaging Het
Rhbdf1 T C 11: 32,164,088 (GRCm39) M273V probably benign Het
Shoc1 A G 4: 59,082,410 (GRCm39) V406A possibly damaging Het
Slc30a3 G T 5: 31,244,165 (GRCm39) Y323* probably null Het
Slc5a9 T C 4: 111,742,770 (GRCm39) I441V possibly damaging Het
Spast G C 17: 74,659,026 (GRCm39) G131A probably damaging Het
Syne1 C G 10: 4,990,897 (GRCm39) W8444S probably damaging Het
Tgm4 G T 9: 122,880,160 (GRCm39) A211S probably benign Het
Themis2 T C 4: 132,513,113 (GRCm39) D371G probably damaging Het
Tmem132e T A 11: 82,325,894 (GRCm39) I206N possibly damaging Het
Uba3 G T 6: 97,176,241 (GRCm39) D88E probably damaging Het
Vmn1r230 T A 17: 21,067,144 (GRCm39) M111K probably damaging Het
Yeats2 C A 16: 20,005,032 (GRCm39) H356Q possibly damaging Het
Zfp180 A G 7: 23,804,528 (GRCm39) K316E probably damaging Het
Zfp518a T C 19: 40,902,771 (GRCm39) L900P probably damaging Het
Zfp655 A G 5: 145,181,410 (GRCm39) N423D possibly damaging Het
Zfp932 A G 5: 110,157,334 (GRCm39) Q344R probably benign 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
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'- ACTGCTAGTTTCTGTTCAAGTGAC -3'
(R):5'- GCATTACTGTTTGTTAAGCCCC -3'

Sequencing Primer
(F):5'- ATCAAGAAGTTCCTTGGCCG -3'
(R):5'- CTGTTTGTTAAGCCCCTTAAAAGAC -3'
Posted On 2014-09-17