|Institutional Source||Beutler Lab|
|Gene Name||dynein cytoplasmic 2 light intermediate chain 1|
|Synonyms||mD2LIC, 4933404O11Rik, LIC3, D2lic, CGI-60|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5841 (G1)|
|Chromosomal Location||84626496-84655558 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 84633562 bp|
|Amino Acid Change||Glycine to Arginine at position 69 (G69R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025101 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025101]|
|Predicted Effect||probably damaging
AA Change: G69R
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: G69R
|Meta Mutation Damage Score||0.8460|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for disruptions in this allele die before embryonic day 11.5. They display neural tube defects in addition to a variety developmental patterning abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dync2li1||
(F):5'- TCGGGCATCGTTGTTCACTC -3'
(R):5'- GATTACACGGACTTCCTGCCAG -3'
(F):5'- CCCAGGACAGTGTTTGAGG -3'
(R):5'- AGCTGAGCTGCACGTGAG -3'