Incidental Mutation 'IGL01629:Dnaaf6rt'
ID 92886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaaf6rt
Ensembl Gene ENSMUSG00000026063
Gene Name dynein axonemal assembly factor 6, retrotransposed
Synonyms 4930521A18Rik, Pih1d3, Dnaaf6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01629
Quality Score
Status
Chromosome 1
Chromosomal Location 31261920-31263368 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 31262014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027230] [ENSMUST00000127775] [ENSMUST00000135245] [ENSMUST00000187659]
AlphaFold Q3KNI6
Predicted Effect probably null
Transcript: ENSMUST00000027230
SMART Domains Protein: ENSMUSP00000127665
Gene: ENSMUSG00000026063

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Adm2 T A 15: 89,207,605 (GRCm39) probably null Het
Alox12 G A 11: 70,133,660 (GRCm39) P555S probably damaging Het
Alpk2 A G 18: 65,433,113 (GRCm39) S1798P probably damaging Het
Amfr T A 8: 94,714,136 (GRCm39) probably null Het
Arhgef18 T A 8: 3,431,942 (GRCm39) C168S possibly damaging Het
Atxn7l3 A T 11: 102,183,320 (GRCm39) probably benign Het
Ccdc191 A G 16: 43,779,663 (GRCm39) K707E possibly damaging Het
Cdc5l G T 17: 45,724,116 (GRCm39) D391E probably benign Het
Cmtm2b T C 8: 105,056,420 (GRCm39) S110P possibly damaging Het
Cyp2j8 T C 4: 96,387,840 (GRCm39) D207G probably damaging Het
Ddhd2 A G 8: 26,225,855 (GRCm39) F501L possibly damaging Het
Dnah1 C T 14: 31,014,277 (GRCm39) V1823M probably damaging Het
Gjb4 T C 4: 127,245,419 (GRCm39) D174G possibly damaging Het
Gm45213 A G 7: 65,711,962 (GRCm39) D58G probably damaging Het
Hes1 C T 16: 29,884,976 (GRCm39) probably benign Het
Krt33b T A 11: 99,920,386 (GRCm39) Q89L probably benign Het
Llcfc1 C A 6: 41,661,459 (GRCm39) S3Y possibly damaging Het
Ltf A G 9: 110,864,874 (GRCm39) N569S probably damaging Het
Mknk1 T A 4: 115,732,731 (GRCm39) W320R probably damaging Het
Mrgprx3-ps T A 7: 46,959,353 (GRCm39) K213* probably null Het
Mslnl T G 17: 25,963,749 (GRCm39) V388G possibly damaging Het
Nfkb1 T C 3: 135,307,228 (GRCm39) I566V probably benign Het
Npy1r G A 8: 67,156,873 (GRCm39) V98I probably benign Het
Phf1 G T 17: 27,153,247 (GRCm39) A22S probably benign Het
Plcg1 T G 2: 160,599,930 (GRCm39) F897V possibly damaging Het
Ric1 A T 19: 29,581,381 (GRCm39) E1367D probably benign Het
Slc24a3 T C 2: 145,482,130 (GRCm39) probably benign Het
Sorl1 A G 9: 41,968,565 (GRCm39) probably null Het
Speer4a2 C T 5: 26,290,700 (GRCm39) S157N probably damaging Het
Spink5 T C 18: 44,129,677 (GRCm39) probably benign Het
Syne2 A G 12: 76,051,377 (GRCm39) I4036V possibly damaging Het
Taok1 A T 11: 77,429,030 (GRCm39) M890K possibly damaging Het
Tenm2 A T 11: 36,755,711 (GRCm39) Y96N probably damaging Het
Ttll10 T A 4: 156,131,351 (GRCm39) T233S probably benign Het
Vps39 G T 2: 120,154,079 (GRCm39) L628M probably benign Het
Zfp563 G A 17: 33,323,600 (GRCm39) R105H probably damaging 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
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
R9706:Dnaaf6rt UTSW 1 31,262,252 (GRCm39) missense possibly damaging 0.54
Posted On 2013-12-09