|Institutional Source||Beutler Lab|
|Gene Name||dynein, axonemal, heavy chain 1|
|Synonyms||E030034C22Rik, MDHC7, Dnahc1, B230373P09Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3615 (G1)|
|Chromosomal Location||31260375-31323896 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 31315148 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 247 (L247P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043281 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048603]|
|AlphaFold||no structure available at present|
AA Change: L247P
PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: L247P
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygous mutants are male sterile, and show impaired ciliary and flagellar motility that is also observed in the tracheal cilia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnah1||
(F):5'- GGATCCTTGGACTGCATCAC -3'
(R):5'- TCTTCTAGACCAGTTTAGGACCTC -3'
(F):5'- GGGGATTTCAACAGATATTTCAGCCC -3'
(R):5'- CCTGTAACCACCTGACCTGG -3'