Incidental Mutation 'IGL02273:Dnaaf5'
ID 287244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaaf5
Ensembl Gene ENSMUSG00000025857
Gene Name dynein, axonemal assembly factor 5
Synonyms Heatr2
Accession Numbers
Essential gene? Probably essential (E-score: 0.901) question?
Stock # IGL02273
Quality Score
Status
Chromosome 5
Chromosomal Location 139135978-139172265 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 139163671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 348 (Q348*)
Ref Sequence ENSEMBL: ENSMUSP00000142924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026975] [ENSMUST00000196441]
AlphaFold B9EJR8
Predicted Effect probably null
Transcript: ENSMUST00000026975
AA Change: Q643*
SMART Domains Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: Q643*

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
low complexity region 43 59 N/A INTRINSIC
low complexity region 73 83 N/A INTRINSIC
low complexity region 91 153 N/A INTRINSIC
low complexity region 162 175 N/A INTRINSIC
Pfam:Vac14_Fab1_bd 673 770 2.4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127542
Predicted Effect probably null
Transcript: ENSMUST00000196441
AA Change: Q348*
SMART Domains Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: Q348*

DomainStartEndE-ValueType
Pfam:Vac14_Fab1_bd 378 475 4.1e-5 PFAM
Pfam:HEAT 447 477 1.7e-3 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik T C 7: 126,429,931 (GRCm39) T89A probably benign Het
Amhr2 T C 15: 102,360,924 (GRCm39) V353A probably benign Het
Bbox1 A T 2: 110,105,961 (GRCm39) Y194* probably null Het
Bltp1 T A 3: 36,975,586 (GRCm39) probably benign Het
Bnipl C A 3: 95,153,086 (GRCm39) R131L possibly damaging Het
Casp8ap2 T C 4: 32,643,974 (GRCm39) S1016P probably damaging Het
Cblb A G 16: 51,867,657 (GRCm39) I88M possibly damaging Het
Cyp24a1 A T 2: 170,338,278 (GRCm39) Y89N probably damaging Het
Ddx25 G T 9: 35,458,122 (GRCm39) N332K possibly damaging Het
Dnah3 A T 7: 119,550,494 (GRCm39) I3264N probably damaging Het
Eml4 T A 17: 83,763,808 (GRCm39) probably null Het
Farsa C T 8: 85,594,455 (GRCm39) A368V probably damaging Het
Fat1 T C 8: 45,403,368 (GRCm39) Y40H probably damaging Het
Glt1d1 T A 5: 127,734,208 (GRCm39) probably benign Het
Gm5422 A G 10: 31,126,003 (GRCm39) noncoding transcript Het
Gpr135 A G 12: 72,116,732 (GRCm39) I345T probably damaging Het
Hmcn2 G A 2: 31,314,389 (GRCm39) V3616I probably benign Het
Kif9 A T 9: 110,339,538 (GRCm39) K460M probably damaging Het
Ldhd T C 8: 112,353,922 (GRCm39) E426G probably benign Het
Mdh1 A T 11: 21,509,786 (GRCm39) N196K probably benign Het
Nfkb1 A T 3: 135,310,968 (GRCm39) C444S probably benign Het
Pfkfb2 G A 1: 130,635,319 (GRCm39) R81C probably damaging Het
Pfpl T C 19: 12,407,327 (GRCm39) V526A possibly damaging Het
Phf20l1 T A 15: 66,511,874 (GRCm39) V951E probably damaging Het
Pik3cg A T 12: 32,226,809 (GRCm39) L1026Q probably damaging Het
Pms1 T C 1: 53,247,156 (GRCm39) N263S probably damaging Het
Prkcb T A 7: 122,226,990 (GRCm39) F659I probably damaging Het
Prr14 A G 7: 127,075,108 (GRCm39) I69M probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Senp5 T C 16: 31,808,690 (GRCm39) H161R probably benign Het
Spc25 A G 2: 69,035,273 (GRCm39) probably benign Het
Spty2d1 A G 7: 46,647,321 (GRCm39) V536A probably damaging Het
Susd2 A G 10: 75,476,772 (GRCm39) S84P possibly damaging Het
Tacc1 A C 8: 25,649,797 (GRCm39) L768V probably damaging Het
Tbpl2 A T 2: 23,986,531 (GRCm39) I5N probably benign Het
Tmc2 A G 2: 130,071,126 (GRCm39) D285G probably damaging Het
Tns3 A T 11: 8,384,531 (GRCm39) V1429E probably damaging Het
Trmt44 T C 5: 35,731,457 (GRCm39) Y190C probably damaging Het
Ubr4 G A 4: 139,199,889 (GRCm39) R4591H possibly damaging Het
Zfc3h1 T A 10: 115,263,004 (GRCm39) D1739E probably benign Het
Zfp26 A G 9: 20,352,744 (GRCm39) V107A probably damaging Het
Other mutations in Dnaaf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Dnaaf5 APN 5 139,163,701 (GRCm39) missense probably benign 0.19
IGL00730:Dnaaf5 APN 5 139,137,423 (GRCm39) critical splice donor site probably null
IGL01468:Dnaaf5 APN 5 139,137,235 (GRCm39) splice site probably null
IGL02106:Dnaaf5 APN 5 139,137,268 (GRCm39) missense probably damaging 1.00
IGL02514:Dnaaf5 APN 5 139,159,872 (GRCm39) splice site probably benign
IGL02572:Dnaaf5 APN 5 139,170,384 (GRCm39) missense probably benign 0.00
IGL02699:Dnaaf5 APN 5 139,139,105 (GRCm39) splice site probably benign
PIT4142001:Dnaaf5 UTSW 5 139,171,273 (GRCm39) missense possibly damaging 0.91
PIT4283001:Dnaaf5 UTSW 5 139,151,917 (GRCm39) missense probably benign 0.26
R0458:Dnaaf5 UTSW 5 139,147,633 (GRCm39) missense possibly damaging 0.47
R2060:Dnaaf5 UTSW 5 139,163,758 (GRCm39) missense probably damaging 1.00
R2162:Dnaaf5 UTSW 5 139,167,320 (GRCm39) missense possibly damaging 0.46
R3833:Dnaaf5 UTSW 5 139,167,320 (GRCm39) missense possibly damaging 0.46
R3944:Dnaaf5 UTSW 5 139,138,679 (GRCm39) start gained probably benign
R4438:Dnaaf5 UTSW 5 139,149,147 (GRCm39) missense probably damaging 1.00
R4534:Dnaaf5 UTSW 5 139,137,282 (GRCm39) nonsense probably null
R4576:Dnaaf5 UTSW 5 139,171,394 (GRCm39) missense probably damaging 0.98
R4581:Dnaaf5 UTSW 5 139,170,440 (GRCm39) missense probably damaging 1.00
R4715:Dnaaf5 UTSW 5 139,163,755 (GRCm39) missense probably damaging 0.99
R4791:Dnaaf5 UTSW 5 139,170,405 (GRCm39) missense possibly damaging 0.56
R4868:Dnaaf5 UTSW 5 139,155,941 (GRCm39) missense probably benign 0.01
R5011:Dnaaf5 UTSW 5 139,149,012 (GRCm39) missense probably damaging 1.00
R5074:Dnaaf5 UTSW 5 139,159,962 (GRCm39) missense probably damaging 1.00
R5137:Dnaaf5 UTSW 5 139,167,215 (GRCm39) missense probably damaging 1.00
R5215:Dnaaf5 UTSW 5 139,147,632 (GRCm39) missense probably benign 0.00
R5309:Dnaaf5 UTSW 5 139,138,617 (GRCm39) missense probably damaging 0.99
R5312:Dnaaf5 UTSW 5 139,138,617 (GRCm39) missense probably damaging 0.99
R6632:Dnaaf5 UTSW 5 139,156,088 (GRCm39) missense probably benign 0.04
R6863:Dnaaf5 UTSW 5 139,137,351 (GRCm39) missense probably damaging 0.96
R7292:Dnaaf5 UTSW 5 139,136,072 (GRCm39) missense unknown
R7439:Dnaaf5 UTSW 5 139,151,868 (GRCm39) missense probably damaging 1.00
R7571:Dnaaf5 UTSW 5 139,155,963 (GRCm39) missense possibly damaging 0.73
R7679:Dnaaf5 UTSW 5 139,136,392 (GRCm39) missense unknown
R7706:Dnaaf5 UTSW 5 139,138,596 (GRCm39) missense probably damaging 1.00
R7867:Dnaaf5 UTSW 5 139,147,565 (GRCm39) missense probably damaging 1.00
R8191:Dnaaf5 UTSW 5 139,167,250 (GRCm39) missense probably benign 0.06
R8354:Dnaaf5 UTSW 5 139,147,614 (GRCm39) frame shift probably null
R8355:Dnaaf5 UTSW 5 139,147,614 (GRCm39) frame shift probably null
R8990:Dnaaf5 UTSW 5 139,155,951 (GRCm39) missense probably damaging 1.00
R9178:Dnaaf5 UTSW 5 139,138,652 (GRCm39) missense probably damaging 1.00
R9447:Dnaaf5 UTSW 5 139,163,743 (GRCm39) missense probably damaging 0.96
R9646:Dnaaf5 UTSW 5 139,151,832 (GRCm39) missense probably benign 0.00
R9649:Dnaaf5 UTSW 5 139,159,909 (GRCm39) missense probably benign 0.00
X0020:Dnaaf5 UTSW 5 139,149,075 (GRCm39) missense probably damaging 0.99
Z1177:Dnaaf5 UTSW 5 139,171,340 (GRCm39) missense probably damaging 1.00
Z1177:Dnaaf5 UTSW 5 139,171,297 (GRCm39) missense probably benign 0.04
Z1177:Dnaaf5 UTSW 5 139,163,730 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16