Incidental Mutation 'R1013:Dnaaf10'
ID 95894
Institutional Source Beutler Lab
Gene Symbol Dnaaf10
Ensembl Gene ENSMUSG00000078970
Gene Name dynein axonemal assembly factor 10
Synonyms Wdr92
MMRRC Submission 039117-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.475) question?
Stock # R1013 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 17161893-17185200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17178183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 226 (K226E)
Ref Sequence ENSEMBL: ENSMUSP00000040938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046955]
AlphaFold Q8BGF3
Predicted Effect probably damaging
Transcript: ENSMUST00000046955
AA Change: K226E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
AA Change: K226E

DomainStartEndE-ValueType
WD40 55 96 6.88e0 SMART
WD40 100 145 5.15e-2 SMART
Blast:WD40 149 196 8e-27 BLAST
WD40 199 240 2.54e2 SMART
WD40 246 288 2.06e0 SMART
WD40 310 350 7.7e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151431
Meta Mutation Damage Score 0.5597 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.4%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
Bclaf1 T A 10: 20,207,822 (GRCm39) probably benign Het
Bicdl2 A G 17: 23,884,377 (GRCm39) probably benign Het
C8a T C 4: 104,685,236 (GRCm39) I336V probably benign Het
Calcr A T 6: 3,692,621 (GRCm39) V374D probably damaging Het
Col28a1 A G 6: 7,999,452 (GRCm39) probably benign Het
Cuedc1 C T 11: 88,078,853 (GRCm39) A327V possibly damaging Het
Cul2 C A 18: 3,425,535 (GRCm39) Y378* probably null Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gm8369 TG TGNG 19: 11,489,147 (GRCm39) probably null Het
Hivep1 A G 13: 42,310,438 (GRCm39) R893G probably damaging Het
Il10rb A G 16: 91,211,581 (GRCm39) N140D probably benign Het
Itga4 A G 2: 79,150,847 (GRCm39) M818V probably benign Het
Kyat3 T C 3: 142,432,007 (GRCm39) I245T probably damaging Het
Lck C T 4: 129,451,920 (GRCm39) C20Y probably damaging Het
Mcm6 T G 1: 128,276,778 (GRCm39) S271R probably benign Het
Megf10 A G 18: 57,394,291 (GRCm39) I472V probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mrpl11 T C 19: 5,013,651 (GRCm39) I144T possibly damaging Het
Or2t26 G A 11: 49,039,977 (GRCm39) V298M probably damaging Het
Or8k25 G A 2: 86,244,319 (GRCm39) P26S possibly damaging Het
Pcdhb17 A G 18: 37,619,020 (GRCm39) D270G probably damaging Het
Plg G A 17: 12,597,608 (GRCm39) probably benign Het
Ppp3cb T A 14: 20,574,072 (GRCm39) E255D probably benign Het
Psenen A G 7: 30,261,802 (GRCm39) F38S possibly damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Sorl1 T C 9: 41,913,855 (GRCm39) N1358S probably benign Het
Trim3 G A 7: 105,267,102 (GRCm39) P426S probably benign Het
Ttc28 T C 5: 111,424,831 (GRCm39) M1552T probably benign Het
Unc13c T C 9: 73,840,614 (GRCm39) D79G probably benign Het
Zcchc14 A G 8: 122,333,664 (GRCm39) probably benign Het
Zfp354a T C 11: 50,951,677 (GRCm39) probably benign Het
Zfp729a T C 13: 67,767,626 (GRCm39) I868V probably benign Het
Other mutations in Dnaaf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Dnaaf10 APN 11 17,182,790 (GRCm39) missense probably benign
IGL01801:Dnaaf10 APN 11 17,169,015 (GRCm39) missense probably benign 0.00
IGL02573:Dnaaf10 APN 11 17,162,136 (GRCm39) missense possibly damaging 0.92
IGL02985:Dnaaf10 APN 11 17,179,845 (GRCm39) missense probably damaging 1.00
IGL03148:Dnaaf10 APN 11 17,179,845 (GRCm39) missense probably damaging 1.00
IGL03147:Dnaaf10 UTSW 11 17,179,845 (GRCm39) missense probably damaging 1.00
R0244:Dnaaf10 UTSW 11 17,179,851 (GRCm39) missense probably damaging 1.00
R0276:Dnaaf10 UTSW 11 17,179,821 (GRCm39) missense probably benign 0.33
R1660:Dnaaf10 UTSW 11 17,177,183 (GRCm39) missense probably benign 0.00
R2030:Dnaaf10 UTSW 11 17,179,832 (GRCm39) missense probably benign
R4663:Dnaaf10 UTSW 11 17,182,853 (GRCm39) missense probably benign 0.01
R4676:Dnaaf10 UTSW 11 17,179,794 (GRCm39) missense probably benign 0.00
R4822:Dnaaf10 UTSW 11 17,177,165 (GRCm39) missense probably damaging 1.00
R5328:Dnaaf10 UTSW 11 17,172,220 (GRCm39) missense probably damaging 0.97
R5439:Dnaaf10 UTSW 11 17,162,031 (GRCm39) missense possibly damaging 0.46
R5473:Dnaaf10 UTSW 11 17,174,591 (GRCm39) missense probably damaging 0.99
R5642:Dnaaf10 UTSW 11 17,177,263 (GRCm39) missense possibly damaging 0.89
R5771:Dnaaf10 UTSW 11 17,174,638 (GRCm39) missense probably benign 0.00
R6680:Dnaaf10 UTSW 11 17,179,857 (GRCm39) missense probably damaging 1.00
R6889:Dnaaf10 UTSW 11 17,172,309 (GRCm39) missense probably damaging 1.00
R7367:Dnaaf10 UTSW 11 17,182,712 (GRCm39) missense probably damaging 1.00
R7693:Dnaaf10 UTSW 11 17,162,064 (GRCm39) missense probably benign 0.25
R7785:Dnaaf10 UTSW 11 17,179,785 (GRCm39) missense probably damaging 1.00
Z1176:Dnaaf10 UTSW 11 17,178,184 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATGGGAACCCAGATGGCTTTAC -3'
(R):5'- GATCCCACAAGTACATGGCAGACAG -3'

Sequencing Primer
(F):5'- accatctgtaactccacttcc -3'
(R):5'- TACATGGCAGACAGAGGAAGC -3'
Posted On 2014-01-05