Incidental Mutation 'R3413:Dnaaf6'
ID 267833
Institutional Source Beutler Lab
Gene Symbol Dnaaf6
Ensembl Gene ENSMUSG00000042433
Gene Name dynein axonemal assembly factor 6
Synonyms Pih1h3b, E230019M04Rik, Dnaaf6b
MMRRC Submission 040631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R3413 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 138963628-139007546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139006770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 216 (N216K)
Ref Sequence ENSEMBL: ENSMUSP00000048754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044806]
AlphaFold Q8C6P5
Predicted Effect possibly damaging
Transcript: ENSMUST00000044806
AA Change: N216K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048754
Gene: ENSMUSG00000042433
AA Change: N216K

DomainStartEndE-ValueType
Pfam:PIH1 10 209 3.2e-8 PFAM
Meta Mutation Damage Score 0.4406 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,037,387 (GRCm39) probably benign Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Axin1 A G 17: 26,407,012 (GRCm39) H535R probably damaging Het
Ccnb3 T A X: 6,874,040 (GRCm39) E846D probably benign Het
Cdca7 G A 2: 72,315,631 (GRCm39) G365R probably damaging Het
Clvs2 T A 10: 33,498,967 (GRCm39) probably benign Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Ddx42 A G 11: 106,138,636 (GRCm39) T812A probably benign Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
Got1l1 A G 8: 27,689,864 (GRCm39) probably null Het
Hip1 T C 5: 135,451,026 (GRCm39) E451G probably damaging Het
Hs6st2 C T X: 50,770,332 (GRCm39) V50I possibly damaging Het
Ighv1-23 C T 12: 114,728,087 (GRCm39) V112I probably benign Het
Map1s A G 8: 71,365,163 (GRCm39) N107D probably damaging Het
Mmel1 T A 4: 154,974,043 (GRCm39) V361D probably damaging Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nup210 G T 6: 91,002,224 (GRCm39) Q755K probably benign Het
Or14j3 A G 17: 37,900,587 (GRCm39) V219A probably benign Het
Or51q1c A G 7: 103,653,039 (GRCm39) M186V probably damaging Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Sspo C T 6: 48,457,631 (GRCm39) R3178C probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syk A G 13: 52,785,775 (GRCm39) D327G probably benign Het
Tbc1d8b C T X: 138,614,140 (GRCm39) A391V probably benign Het
Tmed9 A G 13: 55,743,387 (GRCm39) E173G probably benign Het
Top1mt T C 15: 75,529,025 (GRCm39) N573S probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Zfp92 C T X: 72,463,900 (GRCm39) probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K probably damaging Het
Other mutations in Dnaaf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Dnaaf6 APN X 139,006,711 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- CCCATACTGCCTCATTGAAAATGG -3'
(R):5'- ACAGCACTGTCTTGTATGAAACAAC -3'

Sequencing Primer
(F):5'- GTAAACTTTCCCCAGCCT -3'
(R):5'- TGTCTTGTATGAAACAACCATATTCC -3'
Posted On 2015-02-18