Incidental Mutation 'R5439:Dnaaf10'
ID 428535
Institutional Source Beutler Lab
Gene Symbol Dnaaf10
Ensembl Gene ENSMUSG00000078970
Gene Name dynein axonemal assembly factor 10
Synonyms Wdr92
MMRRC Submission 043004-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.475) question?
Stock # R5439 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 17161893-17185200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17162031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 23 (D23G)
Ref Sequence ENSEMBL: ENSMUSP00000040938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020317] [ENSMUST00000046955]
AlphaFold Q8BGF3
Predicted Effect probably benign
Transcript: ENSMUST00000020317
SMART Domains Protein: ENSMUSP00000020317
Gene: ENSMUSG00000020116

DomainStartEndE-ValueType
KH 153 226 8.92e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000046955
AA Change: D23G

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
AA Change: D23G

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: ENSMUST00000123754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151431
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,683 (GRCm39) I156N probably damaging Het
Abca1 C A 4: 53,042,381 (GRCm39) R1897L possibly damaging Het
Ablim2 A G 5: 36,015,170 (GRCm39) K461E probably damaging Het
Acss3 A T 10: 106,773,008 (GRCm39) Y659* probably null Het
Actr8 T G 14: 29,708,952 (GRCm39) L253R probably damaging Het
Arid4b A G 13: 14,362,281 (GRCm39) K915R probably damaging Het
C3 T C 17: 57,511,502 (GRCm39) E1560G probably benign Het
Cacna1c A T 6: 118,631,333 (GRCm39) I1013N probably damaging Het
Cep83 G A 10: 94,625,600 (GRCm39) R670H probably benign Het
Col19a1 T A 1: 24,332,193 (GRCm39) D870V probably damaging Het
Ddr2 A G 1: 169,832,298 (GRCm39) V164A possibly damaging Het
Donson A T 16: 91,476,814 (GRCm39) V549E probably damaging Het
Egflam C T 15: 7,254,144 (GRCm39) G824R probably damaging Het
Extl3 A G 14: 65,292,075 (GRCm39) F916S probably damaging Het
Fam110c A G 12: 31,124,406 (GRCm39) M123V unknown Het
G3bp1 A T 11: 55,388,813 (GRCm39) I342F probably damaging Het
Golgb1 A G 16: 36,720,870 (GRCm39) N409D probably benign Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Hspb1 A T 5: 135,918,186 (GRCm39) T178S probably benign Het
Iigp1 A G 18: 60,523,329 (GRCm39) Y149C probably damaging Het
Il22 G T 10: 118,045,366 (GRCm39) G159* probably null Het
Jcad T C 18: 4,675,790 (GRCm39) F1184S probably damaging Het
Kcnj2 G T 11: 110,963,057 (GRCm39) V150L probably damaging Het
Kifc1 C T 17: 34,105,639 (GRCm39) R56Q probably damaging Het
Lce1h A G 3: 92,671,027 (GRCm39) S42P unknown Het
Lrp4 C A 2: 91,327,418 (GRCm39) D1471E probably benign Het
Lrrc3 C A 10: 77,737,299 (GRCm39) V46L probably benign Het
Mcf2l G A 8: 12,976,646 (GRCm39) A2T possibly damaging Het
Med12l G A 3: 59,170,634 (GRCm39) C1673Y probably null Het
Nckap1 T C 2: 80,343,034 (GRCm39) E955G possibly damaging Het
Ndufs3 T A 2: 90,732,690 (GRCm39) probably null Het
Nkx6-1 A G 5: 101,809,698 (GRCm39) probably null Het
Obscn C A 11: 58,890,954 (GRCm39) E1713* probably null Het
Or10ak12 G A 4: 118,666,560 (GRCm39) T167I possibly damaging Het
Or10g1b A G 14: 52,627,582 (GRCm39) F216S probably damaging Het
Or10n1 A G 9: 39,524,916 (GRCm39) T18A probably benign Het
Or2n1 T A 17: 38,486,917 (GRCm39) probably null Het
Or6n1 A G 1: 173,917,541 (GRCm39) R312G probably benign Het
Or7e165 A C 9: 19,695,161 (GRCm39) H244P probably damaging Het
Or8c15 A G 9: 38,121,050 (GRCm39) T234A probably benign Het
Osbpl5 A G 7: 143,295,433 (GRCm39) F10L possibly damaging Het
Plvap A C 8: 71,964,095 (GRCm39) I89S probably damaging Het
Ppp2r2a A G 14: 67,259,772 (GRCm39) V308A possibly damaging Het
Ppp2r5e T C 12: 75,540,250 (GRCm39) S132G probably benign Het
Pum3 G T 19: 27,389,659 (GRCm39) Q398K probably benign Het
Ralgapa2 T C 2: 146,184,430 (GRCm39) T1526A probably benign Het
Sh3tc2 T A 18: 62,122,704 (GRCm39) Y488* probably null Het
Spmip7 A T 11: 11,440,244 (GRCm39) R8S possibly damaging Het
Sqle A G 15: 59,202,753 (GRCm39) Y537C probably benign Het
Sult2a8 T G 7: 14,159,439 (GRCm39) K60T probably damaging Het
Tex15 T C 8: 34,064,199 (GRCm39) S1210P possibly damaging Het
Thumpd3 A G 6: 113,043,825 (GRCm39) silent Het
Timeless A G 10: 128,077,604 (GRCm39) D228G probably damaging Het
Trim31 A T 17: 37,216,797 (GRCm39) probably null Het
Ttc39c A T 18: 12,828,428 (GRCm39) D196V possibly damaging Het
Wbp4 C A 14: 79,709,837 (GRCm39) V133L possibly damaging Het
Zfp354c G T 11: 50,706,597 (GRCm39) D159E probably benign Het
Zfp940 C A 7: 29,544,858 (GRCm39) D350Y 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
R1013:Dnaaf10 UTSW 11 17,178,183 (GRCm39) missense probably damaging 1.00
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
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'- TCTGTTGCGGTCTCAGTAGC -3'
(R):5'- CTGGAGCATTGAGGAATCAGACC -3'

Sequencing Primer
(F):5'- TCACACGGCATTTTCGGAG -3'
(R):5'- GCATTGAGGAATCAGACCCTAGATC -3'
Posted On 2016-09-01