Incidental Mutation 'IGL03391:Dnaaf1'
ID421069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaaf1
Ensembl Gene ENSMUSG00000031831
Gene Namedynein, axonemal assembly factor 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.763) question?
Stock #IGL03391
Quality Score
Status
Chromosome8
Chromosomal Location119575235-119598454 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 119582616 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 148 (R148C)
Ref Sequence ENSEMBL: ENSMUSP00000090790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093100]
Predicted Effect probably damaging
Transcript: ENSMUST00000093100
AA Change: R148C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831
AA Change: R148C

DomainStartEndE-ValueType
Pfam:LRR_9 115 298 5.7e-10 PFAM
low complexity region 322 332 N/A INTRINSIC
low complexity region 482 501 N/A INTRINSIC
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 cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit partial postnatal lethality, domed cranium, enlarged lateral ventricles, abnormal hippocampus morphology, and thin cerebral cortex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,884 D586G probably damaging Het
Acadvl A C 11: 70,010,716 M557R probably damaging Het
Ano2 T A 6: 125,807,839 N327K probably damaging Het
Cdh11 A T 8: 102,674,023 D104E possibly damaging Het
Chrnb2 A G 3: 89,760,877 F377S probably damaging Het
Cngb1 T C 8: 95,303,705 probably benign Het
Esrrg A T 1: 188,150,223 I226F possibly damaging Het
Evl C A 12: 108,676,099 probably null Het
Gpam T C 19: 55,081,696 E376G probably damaging Het
Gzf1 C A 2: 148,683,683 R25S probably damaging Het
Ighv5-2 A T 12: 113,578,518 Y113* probably null Het
Izumo4 A G 10: 80,705,113 T216A probably damaging Het
Lrp1b T G 2: 41,295,641 Y1354S possibly damaging Het
Mark1 A G 1: 184,919,435 probably benign Het
Mylpf A G 7: 127,213,177 I17V probably benign Het
Myo18b C A 5: 112,874,479 probably benign Het
Nbas C T 12: 13,483,749 A1795V probably benign Het
Olfr1134 A G 2: 87,656,688 S78P possibly damaging Het
Olfr1484 A G 19: 13,586,119 M272V probably benign Het
Olfr697 A T 7: 106,741,755 Y60N probably damaging Het
Oprm1 A C 10: 7,014,077 probably benign Het
Parp14 T C 16: 35,858,270 M443V probably benign Het
Psca T C 15: 74,714,868 F5S probably benign Het
Ptbp2 A T 3: 119,720,382 Y514* probably null Het
Scg3 A G 9: 75,661,251 probably null Het
Scn2a T C 2: 65,764,213 V1802A probably damaging Het
Serpinb3a A G 1: 107,046,342 S280P possibly damaging Het
Slc39a14 T C 14: 70,309,842 I352V probably damaging Het
Slc6a2 G T 8: 92,961,452 V69L probably damaging Het
Slc8a1 A G 17: 81,432,638 probably benign Het
Tjp1 T C 7: 65,314,969 D818G probably damaging Het
Tnfaip8 T C 18: 50,090,485 V120A probably damaging Het
Trmt5 G A 12: 73,281,452 H326Y probably benign Het
Vmn1r222 T C 13: 23,232,462 M194V possibly damaging Het
Zbtb17 A G 4: 141,466,758 E699G probably damaging Het
Other mutations in Dnaaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Dnaaf1 APN 8 119582578 missense probably damaging 1.00
IGL02664:Dnaaf1 APN 8 119582521 missense probably damaging 1.00
IGL02755:Dnaaf1 APN 8 119590671 missense probably damaging 0.99
R7097_Dnaaf1_566 UTSW 8 119596799 missense possibly damaging 0.94
R0329:Dnaaf1 UTSW 8 119596017 unclassified probably benign
R0467:Dnaaf1 UTSW 8 119590732 missense probably benign
R0483:Dnaaf1 UTSW 8 119590666 missense possibly damaging 0.88
R1464:Dnaaf1 UTSW 8 119579310 missense probably damaging 0.99
R1464:Dnaaf1 UTSW 8 119579310 missense probably damaging 0.99
R1532:Dnaaf1 UTSW 8 119577423 missense probably benign
R1847:Dnaaf1 UTSW 8 119582877 missense probably benign 0.41
R2060:Dnaaf1 UTSW 8 119590602 missense probably benign 0.27
R2108:Dnaaf1 UTSW 8 119582732 critical splice donor site probably null
R2356:Dnaaf1 UTSW 8 119588287 missense probably damaging 1.00
R4801:Dnaaf1 UTSW 8 119577361 missense probably benign 0.10
R4802:Dnaaf1 UTSW 8 119577361 missense probably benign 0.10
R5232:Dnaaf1 UTSW 8 119590590 missense probably benign 0.42
R6846:Dnaaf1 UTSW 8 119582662 missense probably damaging 1.00
R7080:Dnaaf1 UTSW 8 119582596 missense probably damaging 1.00
R7097:Dnaaf1 UTSW 8 119596799 missense possibly damaging 0.94
R7360:Dnaaf1 UTSW 8 119577351 missense probably benign 0.37
Z1176:Dnaaf1 UTSW 8 119575441 missense possibly damaging 0.52
Posted On2016-08-02