|Institutional Source||Beutler Lab|
|Gene Name||alsin Rho guanine nucleotide exchange factor|
|Synonyms||3222402C23Rik, Als2cr6, 9430073A21Rik, Alsin|
|Is this an essential gene?||Probably essential (E-score: 0.806)|
|Stock #||R7494 (G1)|
|Chromosomal Location||59162926-59237231 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||G to A at 59183166 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000125753 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027178] [ENSMUST00000163058]|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Als2||
(F):5'- GTTCAAGTCTTCATAATTGGGAGGC -3'
(R):5'- AACCACAGCTATGCCTCTGG -3'
(F):5'- GCTCCAGGGTATTATCAAATGCC -3'
(R):5'- ACAGCTATGCCTCTGGTGAAG -3'