Incidental Mutation 'R8498:Wdr35'
ID 658387
Institutional Source Beutler Lab
Gene Symbol Wdr35
Ensembl Gene ENSMUSG00000066643
Gene Name WD repeat domain 35
Synonyms 4930459M12Rik
MMRRC Submission 067940-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8498 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 9023897-9078848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9058626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 594 (N594K)
Ref Sequence ENSEMBL: ENSMUSP00000106742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085745] [ENSMUST00000111113]
AlphaFold Q8BND3
Predicted Effect possibly damaging
Transcript: ENSMUST00000085745
AA Change: N605K

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: N605K

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 damaging
Transcript: ENSMUST00000111113
AA Change: N594K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: N594K

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 0.4863 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G T 1: 120,096,872 (GRCm39) probably null Het
Amigo1 A G 3: 108,095,751 (GRCm39) M417V probably benign Het
Celsr1 G T 15: 85,823,306 (GRCm39) Q1701K probably benign Het
Cfhr2 G T 1: 139,741,219 (GRCm39) T252K possibly damaging Het
Cntnap4 T A 8: 113,602,211 (GRCm39) V1205E possibly damaging Het
Ctsb T C 14: 63,370,881 (GRCm39) I31T probably benign Het
Cyp4f13 G C 17: 33,143,833 (GRCm39) P497R probably damaging Het
Dna2 A G 10: 62,809,094 (GRCm39) D1062G probably benign Het
Dnah7a A C 1: 53,657,139 (GRCm39) M879R probably benign Het
Gcc1 C A 6: 28,418,029 (GRCm39) S768I probably benign Het
Gm29106 T C 1: 118,128,218 (GRCm39) Y637H probably damaging Het
Gm4787 T C 12: 81,425,840 (GRCm39) D106G probably damaging Het
Gm527 T A 12: 64,967,782 (GRCm39) V68D probably damaging Het
Grm1 A T 10: 10,955,605 (GRCm39) Y226* probably null Het
Hkdc1 T C 10: 62,221,662 (GRCm39) R799G probably benign Het
Ier2 T C 8: 85,389,353 (GRCm39) I10V probably damaging Het
Ifi209 A G 1: 173,470,069 (GRCm39) N219S probably benign Het
Iqcn T C 8: 71,162,625 (GRCm39) I606T probably benign Het
Krt88 A G 15: 101,351,406 (GRCm39) S138G probably benign Het
Lrrc3 T C 10: 77,736,824 (GRCm39) D204G probably damaging Het
Mllt6 T C 11: 97,567,688 (GRCm39) I705T possibly damaging Het
Mpl G A 4: 118,306,207 (GRCm39) P278S probably benign Het
Nkx3-2 T C 5: 41,920,989 (GRCm39) E100G probably benign Het
Or13p8 A T 4: 118,583,822 (GRCm39) Y126F possibly damaging Het
Or56b1b A T 7: 108,164,833 (GRCm39) C56* probably null Het
Or8b12b G A 9: 37,684,560 (GRCm39) V202M probably damaging Het
Pcdh15 G A 10: 74,317,974 (GRCm39) V992I probably damaging Het
Pcdhgc5 A G 18: 37,953,487 (GRCm39) N254D probably damaging Het
Pdgfd A G 9: 6,288,655 (GRCm39) E103G probably damaging Het
Ppp2r1b C T 9: 50,778,194 (GRCm39) R304* probably null Het
Pramel30 A G 4: 144,058,233 (GRCm39) D280G probably benign Het
Prdm2 G A 4: 142,907,467 (GRCm39) A35V probably damaging Het
Psd T C 19: 46,312,788 (GRCm39) N194S probably damaging Het
Rasgef1c A T 11: 49,862,248 (GRCm39) E379V probably damaging Het
Rnf43 A T 11: 87,618,267 (GRCm39) I186F probably damaging Het
Ros1 C T 10: 52,055,047 (GRCm39) C85Y probably damaging Het
Setd2 T A 9: 110,378,989 (GRCm39) L935I probably damaging Het
Slc2a5 A G 4: 150,210,590 (GRCm39) Q46R probably benign Het
Ss18l1 A T 2: 179,699,968 (GRCm39) Q276L probably damaging Het
Tas2r129 A T 6: 132,928,815 (GRCm39) M251L probably benign Het
Thoc1 A G 18: 9,989,693 (GRCm39) E458G probably benign Het
Zzef1 T A 11: 72,744,148 (GRCm39) C835S 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
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
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'- AAGGGCTGTAGGCAGTTTGAC -3'
(R):5'- TTCACAAATGTATGCAGCAATCCC -3'

Sequencing Primer
(F):5'- GGCAGTTTGACTTCAAGACCACTG -3'
(R):5'- GTATGCAGCAATCCCACTACATTTC -3'
Posted On 2021-01-18