|Institutional Source||Beutler Lab|
|Gene Name||dynein, axonemal, intermediate chain 1|
|Is this an essential gene?||Possibly essential (E-score: 0.588)|
|Stock #||R5970 (G1)|
|Chromosomal Location||41569775-41638158 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 41625281 bp (GRCm38)|
|Amino Acid Change||Lysine to Arginine at position 415 (K415R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000100028 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102963]|
AA Change: K415R
PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
AA Change: K415R
|Meta Mutation Damage Score||0.0925|
|Coding Region Coverage||
|Validation Efficiency||98% (63/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mutant mice exhibit situs inversus, heterotaxia and ciliary dyskinesia including cardiovascular defects and decreased ciliary activity in the trachea, reduced to absent mucociliary clearance, and chronic rhinosinusitis. Hydrocephaly is also seen. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnaic1||
(F):5'- TCATGAAACAGAGCCGTGGC -3'
(R):5'- GAAAACTGTCTCCTCCTAAGTCTCC -3'
(F):5'- GTGGCATGCTGCTGCTCTAC -3'
(R):5'- CCTGGGCCTCTTATGTGC -3'