Incidental Mutation 'R4780:Wdr35'
ID 366435
Institutional Source Beutler Lab
Gene Symbol Wdr35
Ensembl Gene ENSMUSG00000066643
Gene Name WD repeat domain 35
Synonyms 4930459M12Rik
MMRRC Submission 041993-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4780 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 9023897-9078848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9068150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 778 (T778S)
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: T789S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: T789S

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: T778S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: T778S

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 0.0614 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (107/109)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,131 (GRCm39) N107D probably benign Het
4833413E03Rik A C 17: 31,777,738 (GRCm39) noncoding transcript Het
4931429L15Rik G T 9: 46,220,144 (GRCm39) H129Q possibly damaging Het
A730018C14Rik A G 12: 112,382,069 (GRCm39) noncoding transcript Het
Abcc6 T A 7: 45,646,115 (GRCm39) K791N probably benign Het
Adcy4 T G 14: 56,012,493 (GRCm39) Q550P probably benign Het
Add3 C A 19: 53,223,223 (GRCm39) A325E possibly damaging Het
Agbl4 T A 4: 111,514,528 (GRCm39) I513N possibly damaging Het
Agfg1 C A 1: 82,864,108 (GRCm39) T392K probably damaging Het
Akna C A 4: 63,297,491 (GRCm39) M854I probably benign Het
Ankrd44 T C 1: 54,802,916 (GRCm39) N194S probably benign Het
Anks1b A G 10: 89,709,594 (GRCm39) K21E probably damaging Het
Ap1s3 A G 1: 79,586,889 (GRCm39) F154L probably benign Het
Apbb2 T A 5: 66,520,160 (GRCm39) N477I probably damaging Het
Apobec3 T C 15: 79,783,225 (GRCm39) C101R possibly damaging Het
Arnt G T 3: 95,395,696 (GRCm39) V410F probably damaging Het
Arsg G A 11: 109,424,839 (GRCm39) R270H possibly damaging Het
B3gnt7 T A 1: 86,232,992 (GRCm39) D79E probably damaging Het
Cd44 G T 2: 102,691,910 (GRCm39) A126D probably damaging Het
Cd69 A G 6: 129,248,318 (GRCm39) I56T probably damaging Het
Cep120 G A 18: 53,857,608 (GRCm39) P286S probably benign Het
Ces2a T C 8: 105,463,840 (GRCm39) F184S probably damaging Het
Chrng A G 1: 87,135,246 (GRCm39) N185S probably damaging Het
Cldn6 A T 17: 23,900,221 (GRCm39) M62L probably benign Het
Cntn6 T A 6: 104,822,745 (GRCm39) N765K probably damaging Het
Cspg4b A G 13: 113,454,392 (GRCm39) Y146C probably damaging Het
Ctnnal1 T C 4: 56,847,857 (GRCm39) D94G probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Depdc1a A G 3: 159,232,343 (GRCm39) N698S probably benign Het
Dnah2 A T 11: 69,364,697 (GRCm39) I1986N probably damaging Het
Dnah7b A G 1: 46,392,174 (GRCm39) E3845G probably benign Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Dync1h1 T C 12: 110,627,630 (GRCm39) Y4047H probably damaging Het
E130308A19Rik C T 4: 59,691,057 (GRCm39) P297L probably benign Het
E2f5 A G 3: 14,652,379 (GRCm39) T72A probably benign Het
Ephb6 G T 6: 41,593,073 (GRCm39) R437L probably damaging Het
Erbb4 T C 1: 68,337,473 (GRCm39) H615R probably damaging Het
Erbin T C 13: 104,020,714 (GRCm39) T82A probably damaging Het
Eri2 T C 7: 119,384,903 (GRCm39) N533D probably benign Het
Fkbp9 A G 6: 56,827,701 (GRCm39) N174S probably damaging Het
Fsbp C T 4: 11,583,709 (GRCm39) T136I possibly damaging Het
Fubp3 C A 2: 31,473,223 (GRCm39) D47E probably damaging Het
Gm21850 G A 2: 153,898,419 (GRCm39) noncoding transcript Het
Gm5141 T A 13: 62,922,764 (GRCm39) Y135F unknown Het
Gm7353 T A 7: 3,160,725 (GRCm39) noncoding transcript Het
Gm9925 T C 18: 74,198,344 (GRCm39) probably benign Het
Greb1l T C 18: 10,541,792 (GRCm39) S1180P probably benign Het
H2ac11 G A 13: 22,227,079 (GRCm39) Q7* probably null Het
Ift70a2 A C 2: 75,807,920 (GRCm39) C197W probably benign Het
Kiz A G 2: 146,731,166 (GRCm39) T192A possibly damaging Het
Klhl24 T A 16: 19,925,708 (GRCm39) C79S probably damaging Het
Map3k11 A G 19: 5,740,966 (GRCm39) H231R probably damaging Het
Mbd4 C A 6: 115,826,345 (GRCm39) R194S probably benign Het
Mettl21e A C 1: 44,250,303 (GRCm39) S34R probably benign Het
Mrps5 T C 2: 127,440,161 (GRCm39) V245A probably benign Het
Mtrf1 T C 14: 79,639,128 (GRCm39) Y87H probably benign Het
Myh15 T C 16: 48,940,420 (GRCm39) I790T probably benign Het
Necab1 T G 4: 14,989,248 (GRCm39) I176L probably benign Het
Nfkb2 T A 19: 46,298,361 (GRCm39) L555Q probably damaging Het
Nhlrc3 T A 3: 53,365,988 (GRCm39) E168D probably benign Het
Nlrp5 T A 7: 23,135,203 (GRCm39) C949S probably damaging Het
Nup155 C A 15: 8,187,187 (GRCm39) A1372E probably benign Het
Nynrin G T 14: 56,100,720 (GRCm39) R170L probably damaging Het
Ogfrl1 T A 1: 23,409,402 (GRCm39) N275Y probably damaging Het
Olr1 A T 6: 129,465,839 (GRCm39) S56T probably damaging Het
Or4k52 A G 2: 111,611,190 (GRCm39) D175G probably damaging Het
Or5aq1 C T 2: 86,966,221 (GRCm39) S148N probably damaging Het
Or5b121 A G 19: 13,507,319 (GRCm39) N138S probably benign Het
Or8b48 A G 9: 38,493,265 (GRCm39) T231A possibly damaging Het
Ovol2 A T 2: 144,173,203 (GRCm39) probably benign Het
Pcdha6 A T 18: 37,102,906 (GRCm39) I700F probably damaging Het
Prkcz C T 4: 155,374,159 (GRCm39) V86M probably damaging Het
Ptpn13 A G 5: 103,734,639 (GRCm39) T2124A probably benign Het
Ranbp3 G T 17: 56,980,346 (GRCm39) probably benign Het
Rapgef2 A G 3: 79,077,076 (GRCm39) probably benign Het
Rbl1 A G 2: 157,016,724 (GRCm39) V625A probably benign Het
Rbm38 G T 2: 172,863,944 (GRCm39) G38C probably damaging Het
Reg1 T G 6: 78,403,333 (GRCm39) F7C possibly damaging Het
Retnlg A T 16: 48,694,697 (GRCm39) Q115L possibly damaging Het
Rhobtb1 G A 10: 69,105,983 (GRCm39) V183I probably benign Het
Rims1 T C 1: 22,361,329 (GRCm39) Q1186R probably damaging Het
Ryr1 A G 7: 28,794,522 (GRCm39) F1246L possibly damaging Het
Samm50 A G 15: 84,094,811 (GRCm39) N401S possibly damaging Het
Scn3a T A 2: 65,336,537 (GRCm39) I690F probably damaging Het
Sdk1 A G 5: 141,944,993 (GRCm39) D304G probably damaging Het
Skint6 T C 4: 113,093,594 (GRCm39) Y183C probably damaging Het
Slamf1 A T 1: 171,604,829 (GRCm39) T200S probably benign Het
Slc34a2 C T 5: 53,226,793 (GRCm39) R639C probably damaging Het
Smap1 A T 1: 23,892,517 (GRCm39) M149K probably benign Het
Sorcs1 T C 19: 50,132,419 (GRCm39) probably benign Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Spata13 G A 14: 60,991,356 (GRCm39) W366* probably null Het
Spata31e4 C A 13: 50,855,116 (GRCm39) S251R probably damaging Het
Strip1 G A 3: 107,534,314 (GRCm39) T136I probably benign Het
Tacr1 A T 6: 82,534,053 (GRCm39) T360S probably benign Het
Tbc1d14 T A 5: 36,728,600 (GRCm39) probably benign Het
Tcaf2 T C 6: 42,604,996 (GRCm39) Y596C probably damaging Het
Tspoap1 C T 11: 87,669,269 (GRCm39) T1454I possibly damaging Het
Ttn A T 2: 76,744,927 (GRCm39) M5374K probably benign Het
Uts2r G A 11: 121,051,705 (GRCm39) V190I possibly damaging Het
Vmn1r181 A G 7: 23,684,008 (GRCm39) T158A possibly damaging Het
Xrn1 A T 9: 95,856,797 (GRCm39) probably benign Het
Zfp35 A T 18: 24,136,326 (GRCm39) K223N probably damaging Het
Zfp764 T C 7: 127,003,943 (GRCm39) Q396R probably benign Het
Zfyve1 T C 12: 83,605,421 (GRCm39) Y11C 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
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
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'- TTTCCAGAGAGCACCGAGAAC -3'
(R):5'- TGCATCCAGAGAGCAAACGC -3'

Sequencing Primer
(F):5'- GCACCGAGAACTGTGTCTAGTAC -3'
(R):5'- ATTCAGGAGAAGGGCCTTCACTC -3'
Posted On 2015-12-21