Incidental Mutation 'IGL00230:Dnaaf2'
ID 2191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaaf2
Ensembl Gene ENSMUSG00000020973
Gene Name dynein, axonemal assembly factor 2
Synonyms 1110034A24Rik, kintoun, 2810020C19Rik, Ktu
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00230
Quality Score
Status
Chromosome 12
Chromosomal Location 69235861-69245203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69243540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 507 (D507G)
Ref Sequence ENSEMBL: ENSMUSP00000021356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021356] [ENSMUST00000222699]
AlphaFold Q8BPI1
Predicted Effect probably benign
Transcript: ENSMUST00000021356
AA Change: D507G

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
AA Change: D507G

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:PIH1 43 352 2e-99 PFAM
low complexity region 360 373 N/A INTRINSIC
SCOP:d1keka4 398 460 4e-3 SMART
low complexity region 672 693 N/A INTRINSIC
low complexity region 734 743 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181850
SMART Domains Protein: ENSMUSP00000137753
Gene: ENSMUSG00000097061

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
low complexity region 74 87 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000222699
Predicted Effect unknown
Transcript: ENSMUST00000223192
AA Change: D113G
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in the human gene have been associated with primary ciliary dyskinesia. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, reduced body size, situs inversus totalis, hydroencephaly and abnormal brain ependymal and tracheal cilia morphology and motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,553,160 (GRCm39) A215V probably damaging Het
Cfap91 A G 16: 38,156,704 (GRCm39) probably null Het
Cyp2j6 C T 4: 96,424,283 (GRCm39) R158H possibly damaging Het
Fam13b T C 18: 34,620,149 (GRCm39) E245G possibly damaging Het
Gal3st1 A T 11: 3,949,070 (GRCm39) probably benign Het
Galnt5 A T 2: 57,888,985 (GRCm39) Q195L probably benign Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gigyf1 A G 5: 137,521,007 (GRCm39) probably benign Het
Gm4353 G T 7: 115,682,789 (GRCm39) T264K probably damaging Het
Gsk3b A T 16: 38,049,069 (GRCm39) I389F probably benign Het
H2bc14 G T 13: 21,906,545 (GRCm39) R93L possibly damaging Het
Htt A G 5: 34,956,752 (GRCm39) T194A probably benign Het
Ighg3 T C 12: 113,323,457 (GRCm39) Y273C unknown Het
Kdm5b T A 1: 134,548,693 (GRCm39) V1066D probably damaging Het
Kif1a G T 1: 92,982,656 (GRCm39) A707E probably damaging Het
Mars1 A G 10: 127,133,875 (GRCm39) M674T probably benign Het
Mas1 T C 17: 13,060,877 (GRCm39) D182G probably benign Het
Metap1d T A 2: 71,342,506 (GRCm39) D178E probably damaging Het
Nhsl1 T A 10: 18,403,357 (GRCm39) D1329E probably benign Het
Ninl T C 2: 150,808,161 (GRCm39) E289G probably damaging Het
Pmel G T 10: 128,551,958 (GRCm39) G264V possibly damaging Het
Ruvbl1 T C 6: 88,461,385 (GRCm39) probably benign Het
Scn8a T A 15: 100,853,413 (GRCm39) probably benign Het
Septin9 T C 11: 117,245,630 (GRCm39) probably benign Het
Sgpp1 G T 12: 75,762,968 (GRCm39) Y404* probably null Het
Sgsm1 T C 5: 113,392,930 (GRCm39) I788V probably benign Het
Slc13a4 A T 6: 35,266,759 (GRCm39) M112K probably benign Het
Slc22a29 T C 19: 8,195,177 (GRCm39) M153V probably benign Het
Slc9c1 T G 16: 45,393,752 (GRCm39) V565G possibly damaging Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Tec C T 5: 72,926,111 (GRCm39) A314T probably damaging Het
Tg A G 15: 66,699,139 (GRCm39) I803V probably benign Het
Trav9-1 A T 14: 53,725,850 (GRCm39) I55F probably benign Het
Ttll12 C A 15: 83,462,857 (GRCm39) E536D probably benign Het
Ubqln1 C A 13: 58,325,806 (GRCm39) E152* probably null Het
Wwtr1 G A 3: 57,370,912 (GRCm39) T338I probably benign Het
Zdhhc16 T C 19: 41,928,099 (GRCm39) F206S probably benign Het
Other mutations in Dnaaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Dnaaf2 APN 12 69,243,376 (GRCm39) missense probably damaging 1.00
IGL01880:Dnaaf2 APN 12 69,236,811 (GRCm39) missense probably benign 0.17
R0329:Dnaaf2 UTSW 12 69,244,518 (GRCm39) missense probably damaging 1.00
R0330:Dnaaf2 UTSW 12 69,244,518 (GRCm39) missense probably damaging 1.00
R1051:Dnaaf2 UTSW 12 69,244,569 (GRCm39) missense probably damaging 1.00
R1668:Dnaaf2 UTSW 12 69,243,465 (GRCm39) missense probably benign 0.04
R2011:Dnaaf2 UTSW 12 69,243,559 (GRCm39) missense probably damaging 1.00
R2179:Dnaaf2 UTSW 12 69,245,071 (GRCm39) unclassified probably benign
R2243:Dnaaf2 UTSW 12 69,243,418 (GRCm39) missense possibly damaging 0.83
R2356:Dnaaf2 UTSW 12 69,244,992 (GRCm39) missense probably benign 0.01
R4120:Dnaaf2 UTSW 12 69,244,812 (GRCm39) missense possibly damaging 0.85
R5086:Dnaaf2 UTSW 12 69,244,060 (GRCm39) missense probably damaging 1.00
R5205:Dnaaf2 UTSW 12 69,239,698 (GRCm39) missense probably damaging 1.00
R5300:Dnaaf2 UTSW 12 69,245,002 (GRCm39) missense probably damaging 0.99
R5399:Dnaaf2 UTSW 12 69,243,516 (GRCm39) missense probably damaging 0.97
R5739:Dnaaf2 UTSW 12 69,243,715 (GRCm39) missense probably benign
R5765:Dnaaf2 UTSW 12 69,239,627 (GRCm39) missense probably damaging 1.00
R5872:Dnaaf2 UTSW 12 69,244,122 (GRCm39) missense probably damaging 1.00
R6043:Dnaaf2 UTSW 12 69,244,122 (GRCm39) missense probably damaging 1.00
R6338:Dnaaf2 UTSW 12 69,244,896 (GRCm39) missense probably damaging 1.00
R6503:Dnaaf2 UTSW 12 69,244,285 (GRCm39) missense probably benign 0.42
R6524:Dnaaf2 UTSW 12 69,237,159 (GRCm39) missense probably benign 0.43
R6895:Dnaaf2 UTSW 12 69,244,437 (GRCm39) missense probably benign 0.04
R7490:Dnaaf2 UTSW 12 69,244,380 (GRCm39) missense probably damaging 1.00
R7971:Dnaaf2 UTSW 12 69,244,119 (GRCm39) missense probably damaging 1.00
R8209:Dnaaf2 UTSW 12 69,244,866 (GRCm39) missense probably damaging 1.00
R8790:Dnaaf2 UTSW 12 69,244,068 (GRCm39) missense probably damaging 1.00
R9210:Dnaaf2 UTSW 12 69,244,602 (GRCm39) missense probably damaging 1.00
R9548:Dnaaf2 UTSW 12 69,244,776 (GRCm39) missense probably damaging 1.00
Z1176:Dnaaf2 UTSW 12 69,244,624 (GRCm39) missense probably damaging 1.00
Posted On 2011-12-09