|Institutional Source||Beutler Lab|
|Gene Name||dynein cytoplasmic 1 light intermediate chain 1|
|Synonyms||Dnclic1, 1110053F02Rik, LIC-1|
|Is this an essential gene?||Possibly essential (E-score: 0.624)|
|Stock #||R4418 (G1)|
|Chromosomal Location||114688790-114724302 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 114706170 bp|
|Amino Acid Change||Serine to Arginine at position 167 (S167R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035366 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047404]|
|Predicted Effect||probably damaging
AA Change: S167R
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: S167R
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.132|
|Coding Region Coverage||
|Validation Efficiency||95% (72/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to light intermediate subunit family, whose members are components of the multiprotein cytoplasmic dynein complex, which is involved in intracellular trafficking and chromosome segregation during mitosis. The protein plays a role in moving the spindle assembly checkpoint (SAC) from kinetochores to spindle poles. The protein may also mediate binding to other cargo molecules to facilitate intracellular vesicle trafficking. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit increased anxiety-related response, increased dendrite length, increased neuron migration, and decreased lysosome trafficking. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dync1li1||
(F):5'- TAGTGCTGTTAAAAGAAACTGTGGC -3'
(R):5'- GGAATGGCTTTTATAGTCAGCTAAG -3'
(F):5'- AAGAAACTGTGGCTTCTTTTGTTTTG -3'
(R):5'- GTCAGCTAAGATATCTCAATGGAAGC -3'