Incidental Mutation 'R2281:Wdr35'
ID 243152
Institutional Source Beutler Lab
Gene Symbol Wdr35
Ensembl Gene ENSMUSG00000066643
Gene Name WD repeat domain 35
Synonyms 4930459M12Rik
MMRRC Submission 040280-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2281 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 9023897-9078848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9028628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 82 (Q82R)
Ref Sequence ENSEMBL: ENSMUSP00000124285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085745] [ENSMUST00000111113] [ENSMUST00000160329]
AlphaFold Q8BND3
Predicted Effect probably benign
Transcript: ENSMUST00000085745
AA Change: Q82R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: Q82R

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: Q82R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: Q82R

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: ENSMUST00000159126
Predicted Effect probably benign
Transcript: ENSMUST00000160329
AA Change: Q82R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000124285
Gene: ENSMUSG00000066643
AA Change: Q82R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161019
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A G 3: 146,352,179 (GRCm39) L228S probably damaging Het
Abca13 A T 11: 9,278,136 (GRCm39) K3105N probably damaging Het
Abca3 T A 17: 24,595,700 (GRCm39) L351Q possibly damaging Het
Acadm A G 3: 153,638,680 (GRCm39) I231T possibly damaging Het
Adamts4 A T 1: 171,083,798 (GRCm39) Q456L probably damaging Het
Adgra3 C T 5: 50,159,222 (GRCm39) V343I probably benign Het
Ajuba C A 14: 54,814,645 (GRCm39) G26V probably damaging Het
Aldh1a1 A G 19: 20,597,455 (GRCm39) I145M possibly damaging Het
Ankrd42 G A 7: 92,274,981 (GRCm39) Q110* probably null Het
Ano3 T A 2: 110,513,104 (GRCm39) E630D probably benign Het
Ap3d1 T C 10: 80,549,832 (GRCm39) D771G probably damaging Het
Arhgap30 A G 1: 171,216,896 (GRCm39) D21G probably damaging Het
Atg13 T C 2: 91,509,770 (GRCm39) N374S probably benign Het
Ccdc168 T A 1: 44,095,620 (GRCm39) H1826L possibly damaging Het
Ccser1 A T 6: 61,547,799 (GRCm39) M49L probably damaging Het
Cdh5 A G 8: 104,852,365 (GRCm39) E160G probably damaging Het
Cpd T C 11: 76,688,627 (GRCm39) K882E probably benign Het
Crtac1 G A 19: 42,272,006 (GRCm39) L646F unknown Het
Cyp27b1 T G 10: 126,884,163 (GRCm39) V5G probably damaging Het
Dcaf11 G T 14: 55,806,828 (GRCm39) *550Y probably null Het
Dhx58 A G 11: 100,588,980 (GRCm39) probably null Het
Dlg2 T A 7: 92,087,249 (GRCm39) I881N probably damaging Het
Ece1 C T 4: 137,673,673 (GRCm39) T407M possibly damaging Het
Ecsit C T 9: 21,987,836 (GRCm39) V68I possibly damaging Het
Egln1 T C 8: 125,675,153 (GRCm39) D214G probably benign Het
Espn T C 4: 152,220,002 (GRCm39) T47A possibly damaging Het
F5 A G 1: 164,023,289 (GRCm39) I1616V possibly damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fryl T C 5: 73,198,707 (GRCm39) D2640G possibly damaging Het
Gabrg2 T C 11: 41,867,463 (GRCm39) K52R possibly damaging Het
Ganab T C 19: 8,886,832 (GRCm39) V306A probably damaging Het
Glod4 A T 11: 76,128,635 (GRCm39) I70N possibly damaging Het
Gsn T A 2: 35,173,930 (GRCm39) V2E probably benign Het
H1f2 A G 13: 23,922,907 (GRCm39) K26E probably benign Het
Hrg C T 16: 22,780,059 (GRCm39) probably benign Het
Kctd19 T C 8: 106,113,898 (GRCm39) T592A probably benign Het
Kdm3b A G 18: 34,941,472 (GRCm39) D521G probably damaging Het
Lrba A G 3: 86,683,410 (GRCm39) H2744R possibly damaging Het
Lsr C T 7: 30,657,770 (GRCm39) A397T probably damaging Het
Methig1 A T 15: 100,251,241 (GRCm39) M51L possibly damaging Het
Mga A G 2: 119,734,204 (GRCm39) I351V probably benign Het
Mlf1 G A 3: 67,307,084 (GRCm39) V250I possibly damaging Het
Mreg A T 1: 72,231,223 (GRCm39) N78K probably damaging Het
Mtor A G 4: 148,574,012 (GRCm39) D1294G probably benign Het
Nfkb1 T C 3: 135,307,282 (GRCm39) I548V probably damaging Het
Nlrp3 T C 11: 59,439,962 (GRCm39) F513S possibly damaging Het
Nphp4 A G 4: 152,641,500 (GRCm39) K1094E possibly damaging Het
Nr3c2 C A 8: 77,636,536 (GRCm39) H546N probably damaging Het
Nr4a2 T A 2: 57,002,211 (GRCm39) M18L probably benign Het
Or2y1f A C 11: 49,184,459 (GRCm39) T104P probably benign Het
Or4c109 G A 2: 88,817,814 (GRCm39) T244I probably benign Het
Pclo A G 5: 14,590,346 (GRCm39) N882S unknown Het
Pde6a T C 18: 61,395,505 (GRCm39) Y583H probably damaging Het
Pip5k1b T A 19: 24,356,311 (GRCm39) Y209F probably damaging Het
Plch2 A T 4: 155,068,766 (GRCm39) S1182T probably damaging Het
Ptger2 G T 14: 45,227,107 (GRCm39) R229L probably damaging Het
Ptpru C A 4: 131,535,810 (GRCm39) G389V probably damaging Het
Ric8a A G 7: 140,441,851 (GRCm39) N249S probably benign Het
Slc26a5 A G 5: 22,036,508 (GRCm39) I266T possibly damaging Het
Smyd1 T C 6: 71,215,660 (GRCm39) N100D probably damaging Het
Spmap2l T C 5: 77,207,214 (GRCm39) I324T probably damaging Het
Stag3 T C 5: 138,296,546 (GRCm39) F468S probably damaging Het
Stk31 C T 6: 49,394,184 (GRCm39) T182I probably damaging Het
Svep1 G T 4: 58,082,677 (GRCm39) N1982K possibly damaging Het
Tinagl1 A G 4: 130,060,786 (GRCm39) Y344H probably damaging Het
Tmem216 T A 19: 10,529,237 (GRCm39) T104S probably damaging Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Ube4b A G 4: 149,429,029 (GRCm39) I870T probably damaging Het
Vwa8 T A 14: 79,302,436 (GRCm39) L1035Q possibly damaging Het
Wnk1 A T 6: 119,940,601 (GRCm39) probably null Het
Zc3h7a T C 16: 10,976,458 (GRCm39) probably benign Het
Zfp532 T C 18: 65,757,783 (GRCm39) V572A 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
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'- CATGGAACAGGATTTTGCACTG -3'
(R):5'- ATTCTTAGCATGACTCTCACATTCG -3'

Sequencing Primer
(F):5'- GACTGACAATGCACAAAGT -3'
(R):5'- GCATGACTCTCACATTCGTAGAGAG -3'
Posted On 2014-10-16