Incidental Mutation 'R6863:Wdr35'
ID 535772
Institutional Source Beutler Lab
Gene Symbol Wdr35
Ensembl Gene ENSMUSG00000066643
Gene Name WD repeat domain 35
Synonyms 4930459M12Rik
MMRRC Submission 044963-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6863 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 9023897-9078848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9040047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 384 (D384G)
Ref Sequence ENSEMBL: ENSMUSP00000106742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085745] [ENSMUST00000111113] [ENSMUST00000160329]
AlphaFold Q8BND3
Predicted Effect possibly damaging
Transcript: ENSMUST00000085745
AA Change: D384G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: D384G

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: D384G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: D384G

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 probably benign
Transcript: ENSMUST00000160329
SMART Domains Protein: ENSMUSP00000124285
Gene: ENSMUSG00000066643

DomainStartEndE-ValueType
WD40 5 42 8.25e0 SMART
WD40 60 99 3.21e-1 SMART
WD40 104 143 2.21e1 SMART
low complexity region 172 186 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (56/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,277,627 (GRCm39) Y278* probably null Het
Agap3 A T 5: 24,657,461 (GRCm39) Y86F possibly damaging Het
Agap3 C A 5: 24,657,462 (GRCm39) Y86* probably null Het
Ahnak T C 19: 8,989,729 (GRCm39) probably benign Het
Arhgap45 G T 10: 79,853,616 (GRCm39) E43D probably benign Het
Cacna1d A C 14: 29,797,809 (GRCm39) I1426S probably damaging Het
Calhm5 C A 10: 33,968,451 (GRCm39) A201S probably benign Het
Cdkn2a T C 4: 89,193,003 (GRCm39) E159G probably benign Het
Cep85l C A 10: 53,225,214 (GRCm39) W125L probably damaging Het
Ces1g C T 8: 94,043,647 (GRCm39) V431M possibly damaging Het
Csmd1 G A 8: 17,584,929 (GRCm39) A21V possibly damaging Het
Ctsc T A 7: 87,951,486 (GRCm39) Y243* probably null Het
Ctu1 A G 7: 43,326,046 (GRCm39) E235G probably damaging Het
Degs2 T C 12: 108,668,457 (GRCm39) Y14C probably damaging Het
Dnaaf5 T C 5: 139,137,351 (GRCm39) F235L probably damaging Het
Dpp8 T C 9: 64,942,290 (GRCm39) S5P probably damaging Het
Dync1h1 T C 12: 110,618,614 (GRCm39) I3288T probably benign Het
Ebpl A T 14: 61,597,751 (GRCm39) L30Q probably damaging Het
Eif1ad15 T C 12: 88,287,968 (GRCm39) Y95C probably damaging Het
Etaa1 T A 11: 17,903,794 (GRCm39) M1L probably benign Het
Etl4 A G 2: 20,811,120 (GRCm39) T1068A probably benign Het
Eya1 C A 1: 14,341,199 (GRCm39) probably null Het
Fat1 G T 8: 45,497,501 (GRCm39) V4329L probably damaging Het
Fras1 A T 5: 96,691,165 (GRCm39) Q127L probably benign Het
Gm1110 T G 9: 26,792,360 (GRCm39) Y590S probably damaging Het
Gm14410 G A 2: 176,885,860 (GRCm39) Q135* probably null Het
Greb1 A T 12: 16,734,421 (GRCm39) V1523D probably damaging Het
Hmg20b T C 10: 81,182,854 (GRCm39) N210S probably damaging Het
Kcnh7 T C 2: 62,618,029 (GRCm39) K487E possibly damaging Het
Kcnk13 G T 12: 100,027,948 (GRCm39) R341L probably damaging Het
Kif17 T A 4: 137,997,195 (GRCm39) Y139* probably null Het
Klhl2 A T 8: 65,275,743 (GRCm39) N53K probably benign Het
Lrit2 G T 14: 36,793,901 (GRCm39) G322C probably damaging Het
Macir T C 1: 97,574,030 (GRCm39) T12A probably benign Het
Matcap1 T C 8: 106,012,435 (GRCm39) D4G probably damaging Het
Mgam A T 6: 40,705,943 (GRCm39) Q4L probably benign Het
Mst1r A G 9: 107,797,225 (GRCm39) T1365A probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mydgf C A 17: 56,490,789 (GRCm39) V35L probably damaging Het
Nmt2 T A 2: 3,306,341 (GRCm39) probably null Het
Or10s1 A G 9: 39,986,110 (GRCm39) Y173C probably damaging Het
Or52ad1 C T 7: 102,996,123 (GRCm39) C4Y possibly damaging Het
Pik3r2 T C 8: 71,223,058 (GRCm39) Y454C probably damaging Het
Rad54l T C 4: 115,956,866 (GRCm39) Y485C probably damaging Het
Rapgef6 T A 11: 54,437,206 (GRCm39) S50T probably benign Het
Scaf11 T C 15: 96,317,300 (GRCm39) S755G probably damaging Het
Shb A G 4: 45,458,163 (GRCm39) W135R probably damaging Het
Slc1a4 T C 11: 20,264,001 (GRCm39) K239E probably damaging Het
Slc44a4 T A 17: 35,142,798 (GRCm39) V248D probably benign Het
Smpdl3a T A 10: 57,684,107 (GRCm39) Y288* probably null Het
Sptbn1 T C 11: 30,096,777 (GRCm39) M267V possibly damaging Het
Taok2 C T 7: 126,471,109 (GRCm39) R661Q probably damaging Het
Tas1r2 A T 4: 139,397,030 (GRCm39) I819F probably damaging Het
Themis2 A T 4: 132,516,907 (GRCm39) W198R probably damaging Het
Timd4 C G 11: 46,706,270 (GRCm39) S24* probably null Het
Tnrc18 T C 5: 142,800,952 (GRCm39) D2G probably damaging Het
Zfp560 C A 9: 20,259,795 (GRCm39) V356F 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
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'- CCCTGATAACCGCAACTGTTAC -3'
(R):5'- ATCCAGGAGAGCCAATGTTC -3'

Sequencing Primer
(F):5'- ACCGCAACTGTTACACTATTTTG -3'
(R):5'- AGGAGAGCCAATGTTCTGTCC -3'
Posted On 2018-10-18