|Institutional Source||Beutler Lab|
|Gene Name||dynein, axonemal, heavy chain 3|
|Is this an essential gene?||Probably non essential (E-score: 0.116)|
|Stock #||R7499 (G1)|
|Chromosomal Location||119922671-120095280 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 120060912 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 846 (F846L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042857 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046993] [ENSMUST00000209154] [ENSMUST00000213149]|
|Predicted Effect||probably damaging
AA Change: F846L
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: F846L
|Predicted Effect||possibly damaging
AA Change: F835L
PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnah3||
(F):5'- CCCTGCTTCTTGGAATCATCAG -3'
(R):5'- TCATGGAGGTTCCCAGGATC -3'
(F):5'- CAAAAACTCTGGGTGTAGATCTG -3'
(R):5'- AGGTTCCCAGGATCCAAGGTTTC -3'