Incidental Mutation 'R1847:Dnaaf1'
ID 207804
Institutional Source Beutler Lab
Gene Symbol Dnaaf1
Ensembl Gene ENSMUSG00000031831
Gene Name dynein, axonemal assembly factor 1
Synonyms Lrrc50, m4Bei, 4930457P18Rik
MMRRC Submission 039872-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.815) question?
Stock # R1847 (G1)
Quality Score 175
Status Validated
Chromosome 8
Chromosomal Location 120301974-120325193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120309616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 196 (M196K)
Ref Sequence ENSEMBL: ENSMUSP00000090790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093100]
AlphaFold Q9D2H9
Predicted Effect probably benign
Transcript: ENSMUST00000093100
AA Change: M196K

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831
AA Change: M196K

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
Meta Mutation Damage Score 0.4410 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.2%
Validation Efficiency 97% (68/70)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 C A 16: 14,263,313 (GRCm39) R758S probably benign Het
Acnat1 A T 4: 49,447,716 (GRCm39) H288Q possibly damaging Het
Adamts1 T C 16: 85,599,114 (GRCm39) E162G possibly damaging Het
Akap11 A G 14: 78,751,101 (GRCm39) S429P probably benign Het
Alg14 T C 3: 121,155,415 (GRCm39) Y212H probably damaging Het
Cacna1g T C 11: 94,357,007 (GRCm39) T97A probably damaging Het
Ccdc112 T A 18: 46,420,821 (GRCm39) N310Y possibly damaging Het
Cenpl A T 1: 160,913,574 (GRCm39) Y328F probably damaging Het
Cep162 G A 9: 87,086,133 (GRCm39) H1064Y probably benign Het
Cnksr3 T A 10: 7,104,324 (GRCm39) E126D probably benign Het
Ctsh T A 9: 89,943,618 (GRCm39) M81K probably benign Het
D6Wsu163e A G 6: 126,932,112 (GRCm39) T284A probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah9 C A 11: 65,725,212 (GRCm39) G4314C probably damaging Het
Dph1 A G 11: 75,070,557 (GRCm39) Y361H probably damaging Het
Ect2 C T 3: 27,204,221 (GRCm39) M29I probably benign Het
Eif3h T C 15: 51,661,066 (GRCm39) Y167C probably damaging Het
Epc2 C T 2: 49,422,101 (GRCm39) R332C probably damaging Het
Fras1 C A 5: 96,897,282 (GRCm39) probably null Het
Gfm2 A G 13: 97,299,442 (GRCm39) I386V probably benign Het
Gpd1l G A 9: 114,743,399 (GRCm39) T167I probably damaging Het
Hsph1 T A 5: 149,546,950 (GRCm39) K567* probably null Het
Igfn1 T G 1: 135,897,126 (GRCm39) S1147R probably benign Het
Itgb4 T C 11: 115,874,590 (GRCm39) V406A probably benign Het
Kcna2 A G 3: 107,012,429 (GRCm39) I337V possibly damaging Het
Kcnab1 T C 3: 65,209,615 (GRCm39) probably null Het
Kri1 G T 9: 21,191,788 (GRCm39) probably benign Het
Lrguk T A 6: 34,110,322 (GRCm39) I801K possibly damaging Het
Magi2 A T 5: 20,807,458 (GRCm39) N871Y probably damaging Het
Map3k10 G T 7: 27,360,981 (GRCm39) probably null Het
Mrps25 T C 6: 92,155,721 (GRCm39) T71A probably damaging Het
Myo15a G A 11: 60,390,321 (GRCm39) W945* probably null Het
Ncan A T 8: 70,555,104 (GRCm39) I1021N probably damaging Het
Ncf4 C A 15: 78,134,582 (GRCm39) S11R probably benign Het
Neb A C 2: 52,086,307 (GRCm39) S5255R possibly damaging Het
Nop2 TGATGAAGATGAAGATGA TGATGAAGATGA 6: 125,114,042 (GRCm39) probably benign Het
Or4c102 G A 2: 88,422,516 (GRCm39) A123T probably damaging Het
Or5ak22 A T 2: 85,230,785 (GRCm39) F31I probably damaging Het
Or5d16 T C 2: 87,773,065 (GRCm39) probably null Het
Pacs1 T C 19: 5,203,742 (GRCm39) I328V probably damaging Het
Pafah2 GCCCC GCCCCC 4: 134,152,852 (GRCm39) probably null Het
Pan2 A G 10: 128,140,247 (GRCm39) H56R possibly damaging Het
Pigo G A 4: 43,024,710 (GRCm39) R124* probably null Het
Ppfia2 A G 10: 106,763,571 (GRCm39) D1188G probably benign Het
Ppp1r16b A G 2: 158,603,355 (GRCm39) N327D probably damaging Het
Psd3 A G 8: 68,172,656 (GRCm39) C223R possibly damaging Het
Rad50 A G 11: 53,592,934 (GRCm39) V72A possibly damaging Het
Rcor3 T A 1: 191,785,133 (GRCm39) D445V possibly damaging Het
Rundc1 T A 11: 101,324,507 (GRCm39) H404Q probably benign Het
Ryr1 T C 7: 28,779,236 (GRCm39) K2083E probably benign Het
Scd3 C A 19: 44,224,281 (GRCm39) H171Q probably damaging Het
Scrn2 T C 11: 96,923,021 (GRCm39) F155L probably benign Het
Serpina12 A T 12: 103,998,769 (GRCm39) L323Q probably damaging Het
Sptlc3 T A 2: 139,467,843 (GRCm39) M467K probably benign Het
Stard9 G T 2: 120,528,970 (GRCm39) R1742S possibly damaging Het
Thbd A T 2: 148,249,604 (GRCm39) L88* probably null Het
Tln2 G A 9: 67,269,969 (GRCm39) Q477* probably null Het
Tnn T A 1: 159,943,752 (GRCm39) E1020D possibly damaging Het
Trip12 A T 1: 84,726,990 (GRCm39) H3Q probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmp1 G A 11: 86,534,413 (GRCm39) Q165* probably null Het
Zfp758 T A 17: 22,594,204 (GRCm39) M230K probably benign Het
Other mutations in Dnaaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Dnaaf1 APN 8 120,309,317 (GRCm39) missense probably damaging 1.00
IGL02664:Dnaaf1 APN 8 120,309,260 (GRCm39) missense probably damaging 1.00
IGL02755:Dnaaf1 APN 8 120,317,410 (GRCm39) missense probably damaging 0.99
IGL03391:Dnaaf1 APN 8 120,309,355 (GRCm39) missense probably damaging 1.00
R7097_Dnaaf1_566 UTSW 8 120,323,538 (GRCm39) missense possibly damaging 0.94
R0329:Dnaaf1 UTSW 8 120,322,756 (GRCm39) unclassified probably benign
R0467:Dnaaf1 UTSW 8 120,317,471 (GRCm39) missense probably benign
R0483:Dnaaf1 UTSW 8 120,317,405 (GRCm39) missense possibly damaging 0.88
R1464:Dnaaf1 UTSW 8 120,306,049 (GRCm39) missense probably damaging 0.99
R1464:Dnaaf1 UTSW 8 120,306,049 (GRCm39) missense probably damaging 0.99
R1532:Dnaaf1 UTSW 8 120,304,162 (GRCm39) missense probably benign
R2060:Dnaaf1 UTSW 8 120,317,341 (GRCm39) missense probably benign 0.27
R2108:Dnaaf1 UTSW 8 120,309,471 (GRCm39) critical splice donor site probably null
R2356:Dnaaf1 UTSW 8 120,315,026 (GRCm39) missense probably damaging 1.00
R4801:Dnaaf1 UTSW 8 120,304,100 (GRCm39) missense probably benign 0.10
R4802:Dnaaf1 UTSW 8 120,304,100 (GRCm39) missense probably benign 0.10
R5232:Dnaaf1 UTSW 8 120,317,329 (GRCm39) missense probably benign 0.42
R6846:Dnaaf1 UTSW 8 120,309,401 (GRCm39) missense probably damaging 1.00
R7080:Dnaaf1 UTSW 8 120,309,335 (GRCm39) missense probably damaging 1.00
R7097:Dnaaf1 UTSW 8 120,323,538 (GRCm39) missense possibly damaging 0.94
R7360:Dnaaf1 UTSW 8 120,304,090 (GRCm39) missense probably benign 0.37
R7940:Dnaaf1 UTSW 8 120,309,454 (GRCm39) missense possibly damaging 0.57
R8773:Dnaaf1 UTSW 8 120,302,194 (GRCm39) missense probably benign
R9090:Dnaaf1 UTSW 8 120,324,392 (GRCm39) missense probably benign 0.30
R9170:Dnaaf1 UTSW 8 120,302,195 (GRCm39) missense probably benign 0.00
R9271:Dnaaf1 UTSW 8 120,324,392 (GRCm39) missense probably benign 0.30
R9562:Dnaaf1 UTSW 8 120,309,392 (GRCm39) missense probably damaging 0.99
R9607:Dnaaf1 UTSW 8 120,309,350 (GRCm39) missense possibly damaging 0.78
R9622:Dnaaf1 UTSW 8 120,315,001 (GRCm39) missense possibly damaging 0.89
R9667:Dnaaf1 UTSW 8 120,306,043 (GRCm39) missense possibly damaging 0.76
Z1176:Dnaaf1 UTSW 8 120,302,180 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- AAGATCGAGAACCTGGAGCC -3'
(R):5'- GGAGAAGTTTCTGAAGCATTCTG -3'

Sequencing Primer
(F):5'- GAAGCTGGACGCCCTCAAC -3'
(R):5'- CTGAAGCATTCTGTGACAGGTAC -3'
Posted On 2014-06-23