|Institutional Source||Beutler Lab|
|Gene Name||dynein, axonemal, heavy chain 5|
|Synonyms||b2b1565Clo, b2b1134Clo, Mdnah5, b2b1537Clo, b2b1154Clo, Dnahc5|
|Is this an essential gene?||Probably essential (E-score: 0.871)|
|Stock #||R4392 (G1)|
|Chromosomal Location||28203752-28472052 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 28289229 bp|
|Amino Acid Change||Arginine to Histidine at position 1188 (R1188H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069751 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067048]|
|Predicted Effect||probably benign
AA Change: R1188H
PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: R1188H
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||95% (69/73)|
|MGI Phenotype||Strain: 2180081
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnah5||
(F):5'- TTATCACATCCATGGACCGC -3'
(R):5'- CTTTCAAGGTAAGCAGCAAAGG -3'
(F):5'- GCTTCAAACGCTACAATCACATTTGG -3'
(R):5'- TAAGCAGCAAAGGGTTAAGATAGACC -3'