Incidental Mutation 'IGL02805:Dnaaf3'
ID360388
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaaf3
Ensembl Gene ENSMUSG00000055809
Gene Namedynein, axonemal assembly factor 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.416) question?
Stock #IGL02805
Quality Score
Status
Chromosome7
Chromosomal Location4522933-4532453 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 4523705 bp
ZygosityHeterozygous
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] [ENSMUST00000154913] [ENSMUST00000209148]
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205662
Predicted Effect probably benign
Transcript: ENSMUST00000209148
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: 84,223,133 probably benign Het
Ankdd1b A G 13: 96,444,302 S163P probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Asb14 A G 14: 26,901,187 N172S possibly damaging Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
C130073F10Rik A T 4: 101,890,974 M1K probably null Het
Ccdc189 T C 7: 127,586,394 D121G possibly damaging Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Ccdc9 T C 7: 16,275,274 M550V probably benign Het
Cgn T A 3: 94,774,377 L469F probably damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Ppp6r3 T C 19: 3,492,428 N406D probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Rgs7 T C 1: 175,149,696 Y114C probably damaging Het
Ripor1 A G 8: 105,617,571 T446A probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Thumpd3 A G 6: 113,066,797 D391G probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign Het
Other mutations in Dnaaf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02197:Dnaaf3 APN 7 4527497 missense probably damaging 1.00
IGL02319:Dnaaf3 APN 7 4523947 missense probably damaging 1.00
R1818:Dnaaf3 UTSW 7 4523569 splice site probably null
R1818:Dnaaf3 UTSW 7 4523570 missense probably benign 0.35
R2063:Dnaaf3 UTSW 7 4523799 missense possibly damaging 0.87
R2064:Dnaaf3 UTSW 7 4523799 missense possibly damaging 0.87
R2066:Dnaaf3 UTSW 7 4523799 missense possibly damaging 0.87
R2068:Dnaaf3 UTSW 7 4523799 missense possibly damaging 0.87
R2132:Dnaaf3 UTSW 7 4523801 missense probably benign 0.00
R2363:Dnaaf3 UTSW 7 4532277 critical splice acceptor site probably null
R4710:Dnaaf3 UTSW 7 4526494 missense probably damaging 1.00
R4803:Dnaaf3 UTSW 7 4526904 missense probably benign 0.14
R4939:Dnaaf3 UTSW 7 4527145 missense probably damaging 1.00
R5487:Dnaaf3 UTSW 7 4523865 splice site probably null
R5846:Dnaaf3 UTSW 7 4523687 missense possibly damaging 0.73
R6084:Dnaaf3 UTSW 7 4524213 missense probably benign 0.00
R6218:Dnaaf3 UTSW 7 4523672 missense probably benign 0.23
R6576:Dnaaf3 UTSW 7 4523380 missense probably benign 0.41
R6916:Dnaaf3 UTSW 7 4527533 missense probably damaging 1.00
R7219:Dnaaf3 UTSW 7 4528077 missense probably damaging 1.00
R8399:Dnaaf3 UTSW 7 4523937 critical splice donor site probably null
R8678:Dnaaf3 UTSW 7 4530815 missense probably damaging 1.00
Z1088:Dnaaf3 UTSW 7 4523795 missense probably damaging 0.99
Posted On2015-12-18