Incidental Mutation 'IGL02805:Dnaaf3'
ID 360388
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaaf3
Ensembl Gene ENSMUSG00000055809
Gene Name dynein, axonemal assembly factor 3
Synonyms 6030429G01Rik, b2b1739Clo
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # IGL02805
Quality Score
Status
Chromosome 7
Chromosomal Location 4525932-4535452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4526704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 458 (G458R)
Ref Sequence ENSEMBL: ENSMUSP00000092498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094897] [ENSMUST00000098859] [ENSMUST00000140424] [ENSMUST00000209148] [ENSMUST00000154913]
AlphaFold Q3UYV8
Predicted Effect possibly damaging
Transcript: ENSMUST00000094897
AA Change: G458R

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092498
Gene: ENSMUSG00000055809
AA Change: G458R

DomainStartEndE-ValueType
Pfam:DUF4470 16 122 1.3e-27 PFAM
Pfam:DUF4471 154 436 5.3e-104 PFAM
internal_repeat_1 467 512 1.63e-5 PROSPERO
internal_repeat_1 525 568 1.63e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000098859
SMART Domains Protein: ENSMUSP00000096458
Gene: ENSMUSG00000035458

DomainStartEndE-ValueType
Pfam:Troponin-I_N 1 32 1e-10 PFAM
Pfam:Troponin 47 178 3.6e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132621
Predicted Effect probably benign
Transcript: ENSMUST00000140424
SMART Domains Protein: ENSMUSP00000115015
Gene: ENSMUSG00000035458

DomainStartEndE-ValueType
Pfam:Troponin-I_N 1 32 1.1e-14 PFAM
Pfam:Troponin 47 125 3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150166
Predicted Effect probably benign
Transcript: ENSMUST00000154913
SMART Domains Protein: ENSMUSP00000122916
Gene: ENSMUSG00000035458

DomainStartEndE-ValueType
Pfam:Troponin-I_N 1 32 9e-15 PFAM
Pfam:Troponin 47 112 1.8e-20 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 required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies and immotile respiratory cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Asb14 A G 14: 26,623,144 (GRCm39) N172S possibly damaging Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dscaml1 T A 9: 45,359,195 (GRCm39) N151K probably damaging Het
Dsel A G 1: 111,790,046 (GRCm39) V163A probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Hars2 C T 18: 36,920,630 (GRCm39) R158* probably null Het
Htr5b A G 1: 121,455,617 (GRCm39) V101A probably damaging Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,542,428 (GRCm39) N406D probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Ripor1 A G 8: 106,344,203 (GRCm39) T446A probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Scaf11 A T 15: 96,318,063 (GRCm39) D500E possibly damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Srgap3 G T 6: 112,704,224 (GRCm39) H922N probably damaging Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) probably benign Het
Other mutations in Dnaaf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02197:Dnaaf3 APN 7 4,530,496 (GRCm39) missense probably damaging 1.00
IGL02319:Dnaaf3 APN 7 4,526,946 (GRCm39) missense probably damaging 1.00
R1818:Dnaaf3 UTSW 7 4,526,569 (GRCm39) missense probably benign 0.35
R1818:Dnaaf3 UTSW 7 4,526,568 (GRCm39) splice site probably null
R2063:Dnaaf3 UTSW 7 4,526,798 (GRCm39) missense possibly damaging 0.87
R2064:Dnaaf3 UTSW 7 4,526,798 (GRCm39) missense possibly damaging 0.87
R2066:Dnaaf3 UTSW 7 4,526,798 (GRCm39) missense possibly damaging 0.87
R2068:Dnaaf3 UTSW 7 4,526,798 (GRCm39) missense possibly damaging 0.87
R2132:Dnaaf3 UTSW 7 4,526,800 (GRCm39) missense probably benign 0.00
R2363:Dnaaf3 UTSW 7 4,535,276 (GRCm39) critical splice acceptor site probably null
R4710:Dnaaf3 UTSW 7 4,529,493 (GRCm39) missense probably damaging 1.00
R4803:Dnaaf3 UTSW 7 4,529,903 (GRCm39) missense probably benign 0.14
R4939:Dnaaf3 UTSW 7 4,530,144 (GRCm39) missense probably damaging 1.00
R5487:Dnaaf3 UTSW 7 4,526,864 (GRCm39) splice site probably null
R5846:Dnaaf3 UTSW 7 4,526,686 (GRCm39) missense possibly damaging 0.73
R6084:Dnaaf3 UTSW 7 4,527,212 (GRCm39) missense probably benign 0.00
R6218:Dnaaf3 UTSW 7 4,526,671 (GRCm39) missense probably benign 0.23
R6576:Dnaaf3 UTSW 7 4,526,379 (GRCm39) missense probably benign 0.41
R6916:Dnaaf3 UTSW 7 4,530,532 (GRCm39) missense probably damaging 1.00
R7219:Dnaaf3 UTSW 7 4,531,076 (GRCm39) missense probably damaging 1.00
R8399:Dnaaf3 UTSW 7 4,526,936 (GRCm39) critical splice donor site probably null
R8678:Dnaaf3 UTSW 7 4,533,814 (GRCm39) missense probably damaging 1.00
R9515:Dnaaf3 UTSW 7 4,531,100 (GRCm39) missense probably damaging 1.00
Z1088:Dnaaf3 UTSW 7 4,526,794 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18