|Institutional Source||Beutler Lab|
|Gene Name||dynein, axonemal, heavy chain 6|
|Essential gene?||Probably non essential (E-score: 0.116)|
|Stock #||R1301 (G1)|
|Chromosomal Location||73017606-73221651 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to G at 73208545 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000144791 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064948] [ENSMUST00000114040] [ENSMUST00000204053]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9491|
|Coding Region Coverage||
|Validation Efficiency||96% (67/70)|
|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. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnah6||
(F):5'- TGCCAGTGAGGACATGGCATCTTG -3'
(R):5'- TTCCAAAGCCAGTGCTAAAAGTCTACC -3'
(F):5'- tctgtctgcctctgcctc -3'
(R):5'- GTGCTAAAAGTCTACCAAGATCAC -3'