Incidental Mutation 'IGL00508:Dnaaf5'
ID 6384
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 # IGL00508
Quality Score
Status
Chromosome 5
Chromosomal Location 139135978-139172265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139163701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 653 (N653D)
Ref Sequence ENSEMBL: ENSMUSP00000026975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026975] [ENSMUST00000196441]
AlphaFold B9EJR8
Predicted Effect probably benign
Transcript: ENSMUST00000026975
AA Change: N653D

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: N653D

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 benign
Transcript: ENSMUST00000196441
AA Change: N358D

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: N358D

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,654,306 (GRCm39) D2188E probably damaging Het
Atrx A G X: 104,867,405 (GRCm39) S2026P probably damaging Het
Cacna1b A C 2: 24,547,301 (GRCm39) probably null Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Cfap57 C T 4: 118,438,367 (GRCm39) probably null Het
Ckap5 T G 2: 91,436,601 (GRCm39) V1567G probably damaging Het
Cyp2c38 A T 19: 39,449,169 (GRCm39) Y61* probably null Het
D130052B06Rik A G 11: 33,549,402 (GRCm39) E7G unknown Het
Dhx38 A G 8: 110,283,566 (GRCm39) L527P possibly damaging Het
Dnah8 T G 17: 31,074,904 (GRCm39) M4541R probably damaging Het
Dpyd A T 3: 118,858,636 (GRCm39) T617S probably benign Het
Fpr2 A T 17: 18,113,034 (GRCm39) N10I probably damaging Het
Frmd4a A T 2: 4,599,545 (GRCm39) K524* probably null Het
Gpr45 C T 1: 43,071,452 (GRCm39) P32S possibly damaging Het
H2-Eb2 A T 17: 34,553,341 (GRCm39) I176F probably damaging Het
Hcrtr1 T A 4: 130,031,062 (GRCm39) N74I probably damaging Het
Ifi47 C T 11: 48,986,241 (GRCm39) Q3* probably null Het
Krt8 T A 15: 101,906,460 (GRCm39) M350L probably benign Het
Lilra6 A G 7: 3,914,553 (GRCm39) S533P probably benign Het
Map1b A T 13: 99,565,741 (GRCm39) S2327T unknown Het
Mcoln3 T A 3: 145,839,683 (GRCm39) I345N probably damaging Het
Mettl3 C A 14: 52,532,436 (GRCm39) probably benign Het
Mgat4a G A 1: 37,488,204 (GRCm39) R472* probably null Het
Micall1 A G 15: 79,014,768 (GRCm39) K715E probably damaging Het
Pak1 G T 7: 97,503,775 (GRCm39) G37C probably benign Het
Pomt2 T G 12: 87,166,401 (GRCm39) H426P probably damaging Het
Pou2f3 G A 9: 43,051,258 (GRCm39) P155S probably benign Het
Psg25 A G 7: 18,263,656 (GRCm39) Y56H probably benign Het
Rab9 G T X: 165,240,860 (GRCm39) Y150* probably null Het
Rhox2g T A X: 36,824,463 (GRCm39) N152I probably damaging Het
Sema6d T C 2: 124,498,844 (GRCm39) probably benign Het
Simc1 C A 13: 54,672,989 (GRCm39) Q446K probably benign Het
Svs5 G T 2: 164,078,962 (GRCm39) T315K possibly damaging Het
Syt9 C T 7: 107,024,574 (GRCm39) R156* probably null Het
Tmem260 A T 14: 48,746,578 (GRCm39) Y618F probably damaging Het
Wdr44 A G X: 23,666,783 (GRCm39) I719V possibly damaging Het
Zfp518a T G 19: 40,901,914 (GRCm39) I614M probably damaging Het
Other mutations in Dnaaf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02273:Dnaaf5 APN 5 139,163,671 (GRCm39) nonsense probably null
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 2012-04-20