Incidental Mutation 'R1477:Dnaaf6rt'
ID 164109
Institutional Source Beutler Lab
Gene Symbol Dnaaf6rt
Ensembl Gene ENSMUSG00000026063
Gene Name dynein axonemal assembly factor 6, retrotransposed
Synonyms 4930521A18Rik, Pih1d3, Dnaaf6
MMRRC Submission 039530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1477 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 31261920-31263368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31262104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 29 (V29M)
Ref Sequence ENSEMBL: ENSMUSP00000127665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027230] [ENSMUST00000127775] [ENSMUST00000135245] [ENSMUST00000187659]
AlphaFold Q3KNI6
Predicted Effect probably benign
Transcript: ENSMUST00000027230
AA Change: V29M

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000127665
Gene: ENSMUSG00000026063
AA Change: V29M

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 A C 19: 55,279,904 (GRCm39) D481A probably benign Het
Adam2 A C 14: 66,315,149 (GRCm39) L8R possibly damaging Het
Ajm1 G C 2: 25,469,765 (GRCm39) H49D possibly damaging Het
Arfgef1 A T 1: 10,259,509 (GRCm39) C619S probably damaging Het
Atm A G 9: 53,375,573 (GRCm39) I2082T probably benign Het
Cgrrf1 A G 14: 47,090,895 (GRCm39) I210M probably benign Het
Clec2e A T 6: 129,072,163 (GRCm39) V72E probably benign Het
Cmtr1 T C 17: 29,916,131 (GRCm39) V587A possibly damaging Het
Col1a2 T C 6: 4,539,673 (GRCm39) F1314L unknown Het
Ctbp2 T C 7: 132,600,670 (GRCm39) E618G probably damaging Het
Dock8 A T 19: 25,072,914 (GRCm39) Y398F possibly damaging Het
Ezh1 A T 11: 101,083,810 (GRCm39) D733E probably damaging Het
Fbxl6 A G 15: 76,421,934 (GRCm39) S202P probably benign Het
Fcgbpl1 C A 7: 27,856,518 (GRCm39) Q2102K probably benign Het
Grid2ip G A 5: 143,361,340 (GRCm39) A191T probably damaging Het
Helz2 T C 2: 180,874,597 (GRCm39) S1966G probably benign Het
Ipmk A G 10: 71,217,607 (GRCm39) K385E probably damaging Het
Itga11 G A 9: 62,662,493 (GRCm39) V489I probably benign Het
Klhl6 T C 16: 19,784,727 (GRCm39) K137R probably benign Het
Meis1 G A 11: 18,831,665 (GRCm39) Q458* probably null Het
Mst1r T C 9: 107,785,523 (GRCm39) S394P probably benign Het
Mus81 G T 19: 5,536,362 (GRCm39) H155Q probably benign Het
Neb G A 2: 52,154,134 (GRCm39) L2326F probably damaging Het
Nf1 C T 11: 79,286,685 (GRCm39) Q162* probably null Het
Nin T C 12: 70,090,958 (GRCm39) E819G possibly damaging Het
Nox4 T C 7: 86,945,074 (GRCm39) V79A probably benign Het
Or11g2 A T 14: 50,856,170 (GRCm39) I164F probably damaging Het
Or13a28 T A 7: 140,218,355 (GRCm39) I247N possibly damaging Het
Or5ae2 T A 7: 84,506,225 (GRCm39) I216N probably damaging Het
Or6d12 A T 6: 116,493,626 (GRCm39) Y296F probably damaging Het
Peg3 T A 7: 6,719,141 (GRCm39) D69V probably damaging Het
Pnp2 A G 14: 51,196,992 (GRCm39) E26G probably benign Het
Pnpt1 T A 11: 29,087,102 (GRCm39) C154S probably benign Het
Ppp1r26 C T 2: 28,342,800 (GRCm39) T810I probably benign Het
Ppp2r5b A G 19: 6,280,257 (GRCm39) S349P probably benign Het
Prdm4 C T 10: 85,740,129 (GRCm39) V424I probably benign Het
Rraga A G 4: 86,494,996 (GRCm39) I281V probably benign Het
Sall1 T C 8: 89,759,510 (GRCm39) E198G probably damaging Het
Serpina9 T C 12: 103,963,362 (GRCm39) D382G possibly damaging Het
Stt3b A G 9: 115,095,260 (GRCm39) V257A probably damaging Het
Taf2 A T 15: 54,925,568 (GRCm39) Y225N possibly damaging Het
Tlr3 A G 8: 45,851,202 (GRCm39) L41P probably damaging Het
Trappc12 A T 12: 28,787,751 (GRCm39) V444E probably benign Het
Trim34a T A 7: 103,897,287 (GRCm39) V117D possibly damaging Het
Ttbk1 A C 17: 46,787,725 (GRCm39) M259R probably benign Het
Ttll12 A G 15: 83,464,303 (GRCm39) V509A probably damaging Het
Ush2a G A 1: 188,581,273 (GRCm39) V3718M probably benign Het
Vps35 T A 8: 86,014,429 (GRCm39) E73D probably damaging Het
Zfp790 C T 7: 29,522,525 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCACAGCGAGTGGCAGTTTATTTTC -3'
(R):5'- GTCCTCAGTTCCCACAGTTTGTTGG -3'

Sequencing Primer
(F):5'- CTAGGCTGTGAACAGCACTG -3'
(R):5'- CAGTTCCCACAGTTTGTTGGAATAC -3'
Posted On 2014-03-28