Incidental Mutation 'R9706:Dnaaf6rt'
ID 729778
Institutional Source Beutler Lab
Gene Symbol Dnaaf6rt
Ensembl Gene ENSMUSG00000026063
Gene Name dynein axonemal assembly factor 6, retrotransposed
Synonyms 4930521A18Rik, Pih1d3, Dnaaf6
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9706 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 31261920-31263368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 31262252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 78 (E78A)
Ref Sequence ENSEMBL: ENSMUSP00000127665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027230] [ENSMUST00000127775] [ENSMUST00000135245] [ENSMUST00000187659]
AlphaFold Q3KNI6
Predicted Effect possibly damaging
Transcript: ENSMUST00000027230
AA Change: E78A

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127665
Gene: ENSMUSG00000026063
AA Change: E78A

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Pfam:PIH1 70 209 2.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127775
SMART Domains Protein: ENSMUSP00000120381
Gene: ENSMUSG00000086727

DomainStartEndE-ValueType
low complexity region 55 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135245
SMART Domains Protein: ENSMUSP00000120289
Gene: ENSMUSG00000086727

DomainStartEndE-ValueType
low complexity region 55 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187659
SMART Domains Protein: ENSMUSP00000139710
Gene: ENSMUSG00000086727

DomainStartEndE-ValueType
low complexity region 55 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187892
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele develop normally but display male infertility associated with asthenozoospermia and abnormal sperm flagellum morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Atad3a C T 4: 155,834,929 (GRCm39) probably null Het
Atg16l1 T C 1: 87,713,977 (GRCm39) F463L possibly damaging Het
Camsap3 C T 8: 3,658,689 (GRCm39) T1209I possibly damaging Het
Cldn10 T A 14: 119,099,189 (GRCm39) M101K probably damaging Het
Crb2 G A 2: 37,681,215 (GRCm39) G686D probably damaging Het
Creb3 T A 4: 43,565,520 (GRCm39) L209* probably null Het
Crocc C A 4: 140,746,046 (GRCm39) R1855L possibly damaging Het
Decr2 A T 17: 26,302,869 (GRCm39) M169K probably benign Het
Defb22 T C 2: 152,327,820 (GRCm39) T122A unknown Het
Dnah17 A T 11: 118,017,026 (GRCm39) I238N probably damaging Het
Efcab14 T A 4: 115,625,901 (GRCm39) S457T possibly damaging Het
Ephb3 A T 16: 21,039,193 (GRCm39) I604F probably damaging Het
Fam184a T C 10: 53,575,249 (GRCm39) D120G probably damaging Het
Fcrlb T A 1: 170,735,474 (GRCm39) T267S possibly damaging Het
Gm15446 A T 5: 110,091,161 (GRCm39) Q471L probably damaging Het
H2-Q4 A T 17: 35,599,129 (GRCm39) Y133F probably damaging Het
H2-T24 A T 17: 36,325,735 (GRCm39) H285Q probably benign Het
Hc A C 2: 34,914,196 (GRCm39) V837G probably damaging Het
Hmcn2 G A 2: 31,305,279 (GRCm39) V3151I probably benign Het
Inpp5e T A 2: 26,292,126 (GRCm39) M311L probably benign Het
Inpp5j A G 11: 3,449,960 (GRCm39) F644S possibly damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Lingo3 A T 10: 80,670,288 (GRCm39) F547L probably damaging Het
Lrrc47 T G 4: 154,096,487 (GRCm39) L94R probably damaging Het
Lrriq1 A G 10: 102,881,902 (GRCm39) F155S Het
Masp2 A G 4: 148,696,597 (GRCm39) E398G probably benign Het
Mcm3ap C T 10: 76,312,352 (GRCm39) S477L probably damaging Het
Mllt10 T C 2: 18,151,655 (GRCm39) V256A possibly damaging Het
Muc1 T A 3: 89,138,888 (GRCm39) I499K probably benign Het
Nup50 G A 15: 84,811,648 (GRCm39) probably null Het
Or13a21 A T 7: 139,999,266 (GRCm39) I140N probably damaging Het
Or4p20 T A 2: 88,253,779 (GRCm39) M197L probably benign Het
Or52e18 A G 7: 104,609,195 (GRCm39) V248A probably damaging Het
Or5ar1 T A 2: 85,671,658 (GRCm39) H159L probably damaging Het
Pclo A T 5: 14,905,683 (GRCm39) H4971L unknown Het
Pcsk1 G T 13: 75,247,473 (GRCm39) probably null Het
Pik3r5 C A 11: 68,381,426 (GRCm39) T204N probably benign Het
Prrc2b T C 2: 32,107,300 (GRCm39) V1621A probably benign Het
Ptchd4 A G 17: 42,814,806 (GRCm39) *902W probably null Het
R3hdm2 A G 10: 127,334,298 (GRCm39) D907G probably benign Het
R3hdm4 A T 10: 79,752,655 (GRCm39) probably null Het
Rbpms2 C T 9: 65,558,285 (GRCm39) A107V probably benign Het
Rgs14 G A 13: 55,531,934 (GRCm39) E544K probably benign Het
Sacs C T 14: 61,445,822 (GRCm39) Q2623* probably null Het
Sec16b G A 1: 157,378,695 (GRCm39) probably null Het
Spire1 C T 18: 67,636,508 (GRCm39) R386Q probably benign Het
Sqle A T 15: 59,201,625 (GRCm39) Y492F probably damaging Het
Stk38l C T 6: 146,677,104 (GRCm39) T427I probably benign Het
Tbx5 C A 5: 119,979,909 (GRCm39) L152I probably benign Het
Vmn2r101 T C 17: 19,809,925 (GRCm39) M237T probably damaging Het
Vmn2r58 A T 7: 41,510,000 (GRCm39) F526I probably damaging Het
Vwf G A 6: 125,601,536 (GRCm39) R826Q Het
Other mutations in Dnaaf6rt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Dnaaf6rt APN 1 31,262,053 (GRCm39) missense probably benign 0.00
IGL01469:Dnaaf6rt APN 1 31,262,510 (GRCm39) missense probably damaging 0.99
IGL01629:Dnaaf6rt APN 1 31,262,014 (GRCm39) splice site probably null
IGL02545:Dnaaf6rt APN 1 31,262,177 (GRCm39) missense probably damaging 0.99
R1263:Dnaaf6rt UTSW 1 31,262,296 (GRCm39) missense probably damaging 1.00
R1477:Dnaaf6rt UTSW 1 31,262,104 (GRCm39) missense probably benign 0.08
R2073:Dnaaf6rt UTSW 1 31,262,077 (GRCm39) missense probably benign 0.01
R4459:Dnaaf6rt UTSW 1 31,262,405 (GRCm39) missense probably damaging 1.00
R5289:Dnaaf6rt UTSW 1 31,262,608 (GRCm39) missense probably benign 0.02
R5303:Dnaaf6rt UTSW 1 31,262,537 (GRCm39) missense probably damaging 1.00
R6216:Dnaaf6rt UTSW 1 31,262,432 (GRCm39) missense probably damaging 1.00
R6994:Dnaaf6rt UTSW 1 31,261,990 (GRCm39) unclassified probably benign
R7372:Dnaaf6rt UTSW 1 31,262,432 (GRCm39) missense probably damaging 1.00
R8127:Dnaaf6rt UTSW 1 31,262,201 (GRCm39) missense probably benign
R8415:Dnaaf6rt UTSW 1 31,262,564 (GRCm39) missense probably benign 0.30
R8439:Dnaaf6rt UTSW 1 31,262,349 (GRCm39) missense probably damaging 1.00
R9675:Dnaaf6rt UTSW 1 31,262,644 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCTGAAGCTGAGAATGTGG -3'
(R):5'- CATGCCGTTGAAGGATCCTTTC -3'

Sequencing Primer
(F):5'- GCTGAAGCTGAGAATGTGGTAACAG -3'
(R):5'- AGGATCCTTTCTTGTTAATCCTAGG -3'
Posted On 2022-10-06