Incidental Mutation 'R0487:Wdr35'
ID 42362
Institutional Source Beutler Lab
Gene Symbol Wdr35
Ensembl Gene ENSMUSG00000066643
Gene Name WD repeat domain 35
Synonyms 4930459M12Rik
MMRRC Submission 038686-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0487 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 9023897-9078848 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 9062743 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161019
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.6%
Validation Efficiency
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
Abca13 A T 11: 9,281,687 (GRCm39) M3190L probably benign Het
Adgrv1 A T 13: 81,637,154 (GRCm39) L3429H probably damaging Het
Ahnak A G 19: 8,991,484 (GRCm39) D4256G probably damaging Het
Ahnak A G 19: 8,984,515 (GRCm39) N1933S probably benign Het
Amacr A G 15: 10,984,835 (GRCm39) D151G probably benign Het
Ano9 A T 7: 140,687,762 (GRCm39) H255Q possibly damaging Het
Asphd2 A T 5: 112,539,501 (GRCm39) Y111N possibly damaging Het
Cage1 T A 13: 38,209,334 (GRCm39) K214N probably benign Het
Cdkn2c A G 4: 109,518,606 (GRCm39) L116P probably damaging Het
Cltc C T 11: 86,624,490 (GRCm39) R148H probably damaging Het
Cmbl A G 15: 31,582,176 (GRCm39) N58D probably damaging Het
Cpa6 T C 1: 10,479,487 (GRCm39) T249A possibly damaging Het
Cpsf1 T A 15: 76,481,202 (GRCm39) N1218I probably damaging Het
Csf2rb T C 15: 78,232,531 (GRCm39) S613P probably benign Het
Ctnnd1 A G 2: 84,439,411 (GRCm39) S761P probably damaging Het
Cxcr6 A C 9: 123,639,463 (GRCm39) I155L probably benign Het
Ecpas A G 4: 58,819,155 (GRCm39) V1265A probably damaging Het
Fam216a A G 5: 122,508,576 (GRCm39) probably null Het
Fgf10 T A 13: 118,918,147 (GRCm39) probably null Het
Fgf17 T C 14: 70,875,996 (GRCm39) T79A probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gm1527 G T 3: 28,980,828 (GRCm39) V643L probably benign Het
Hmcn2 A T 2: 31,276,689 (GRCm39) Q1556L possibly damaging Het
Hspa4l C T 3: 40,738,758 (GRCm39) T616I possibly damaging Het
Irag2 A G 6: 145,110,986 (GRCm39) S264G probably benign Het
Irgm1 T C 11: 48,757,154 (GRCm39) D219G probably damaging Het
Jcad A G 18: 4,673,243 (GRCm39) D335G probably damaging Het
Kcnh4 A G 11: 100,641,084 (GRCm39) F455S probably damaging Het
Khdrbs3 T C 15: 68,889,210 (GRCm39) Y120H probably damaging Het
Kndc1 A T 7: 139,493,939 (GRCm39) T507S probably null Het
Lepr G T 4: 101,625,290 (GRCm39) E482* probably null Het
Mcemp1 T A 8: 3,717,507 (GRCm39) M146K probably benign Het
Mllt10 A G 2: 18,211,948 (GRCm39) T411A probably damaging Het
Myh8 A T 11: 67,192,837 (GRCm39) I1543L probably benign Het
Myo1f T C 17: 33,797,258 (GRCm39) S147P probably damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Or5j1 C T 2: 86,878,837 (GRCm39) V248I probably damaging Het
Plaat1 G A 16: 29,039,331 (GRCm39) probably null Het
Plch2 G A 4: 155,093,469 (GRCm39) R57C probably damaging Het
Rbm20 G A 19: 53,839,626 (GRCm39) G872R probably damaging Het
Retsat A T 6: 72,583,414 (GRCm39) I373F probably damaging Het
Rnf145 T C 11: 44,446,056 (GRCm39) F297L probably benign Het
Ros1 A T 10: 52,031,204 (GRCm39) M479K possibly damaging Het
Rubcnl T A 14: 75,273,521 (GRCm39) N244K probably benign Het
Samhd1 A G 2: 156,952,535 (GRCm39) F406L probably damaging Het
Sdsl A T 5: 120,597,533 (GRCm39) V258D probably damaging Het
Sec24c C G 14: 20,733,467 (GRCm39) P166A probably benign Het
Sele C A 1: 163,881,184 (GRCm39) Y461* probably null Het
Slc22a1 G T 17: 12,881,487 (GRCm39) S334* probably null Het
Spem1 T G 11: 69,712,691 (GRCm39) probably null Het
Stat3 T C 11: 100,794,469 (GRCm39) E280G probably damaging Het
Stxbp4 T C 11: 90,483,186 (GRCm39) H280R probably benign Het
Tas2r129 G A 6: 132,928,906 (GRCm39) C281Y probably benign Het
Tas2r129 T G 6: 132,928,907 (GRCm39) C281W probably benign Het
Tcp11 T A 17: 28,298,897 (GRCm39) probably null Het
Tnrc6b G A 15: 80,764,876 (GRCm39) V793M probably benign Het
Vmn2r59 A C 7: 41,696,528 (GRCm39) Y71* probably null Het
Zan A G 5: 137,411,620 (GRCm39) probably null Het
Zap70 G T 1: 36,818,365 (GRCm39) V351L probably damaging Het
Zfp609 G T 9: 65,609,916 (GRCm39) Q1016K unknown Het
Zfp641 C A 15: 98,187,060 (GRCm39) V188L probably benign Het
Zpld2 A T 4: 133,930,089 (GRCm39) L72Q 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
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'- AGATGGCATTGCTCACATCCTGG -3'
(R):5'- AAGGGCTACTCTCTGATGTCCCTG -3'

Sequencing Primer
(F):5'- TTTGATTGCAAGCTTTGACATGG -3'
(R):5'- tcacccttctccccacttc -3'
Posted On 2013-05-23