|Institutional Source||Beutler Lab|
|Gene Name||dynein, axonemal, heavy chain 11|
|Synonyms||b2b598Clo, Dnahc11, b2b1289Clo, lrd, b2b1727Clo, b2b1203Clo, b2b1279Clo|
|Is this an essential gene?||Possibly essential (E-score: 0.643)|
|Stock #||R0208 (G1)|
|Chromosomal Location||117877982-118199043 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 118043774 bp|
|Amino Acid Change||Asparagine to Lysine at position 2156 (N2156K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081867 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084806]|
|Predicted Effect||probably damaging
AA Change: N2156K
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: N2156K
AA Change: N252K
|Coding Region Coverage||
|Validation Efficiency||96% (67/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
PHENOTYPE: Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnah11||
(F):5'- CAGTGTCACATGATCAAATGGCAGC -3'
(R):5'- TGGCAGTGATGATGACGATGACAAC -3'
(F):5'- CTGTAGATTTCAGACCCTAGCTCAAC -3'
(R):5'- tgatgatgacgatgaCAACATATTGC -3'