|Institutional Source||Beutler Lab|
|Gene Name||dynein, axonemal assembly factor 1|
|Is this an essential gene?||Possibly essential (E-score: 0.612)|
|Stock #||R1847 (G1)|
|Chromosomal Location||119575235-119598454 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 119582877 bp|
|Amino Acid Change||Methionine to Lysine at position 196 (M196K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000090790 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000093100]|
|Predicted Effect||probably benign
AA Change: M196K
PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
AA Change: M196K
|Meta Mutation Damage Score||0.4410|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
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||
|Other mutations in Dnaaf1||
(F):5'- AAGATCGAGAACCTGGAGCC -3'
(R):5'- GGAGAAGTTTCTGAAGCATTCTG -3'
(F):5'- GAAGCTGGACGCCCTCAAC -3'
(R):5'- CTGAAGCATTCTGTGACAGGTAC -3'