|Institutional Source||Beutler Lab|
|Gene Name||lysosomal trafficking regulator|
|Is this an essential gene?||Possibly non essential (E-score: 0.499)|
|Stock #||R0481 (G1)|
|Chromosomal Location||13590397-13778803 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 13677952 bp|
|Amino Acid Change||Valine to Alanine at position 2179 (V2179A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000106188 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110559]|
|Predicted Effect||probably benign
AA Change: V2179A
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: V2179A
|Meta Mutation Damage Score||0.006|
|Coding Region Coverage||
|Validation Efficiency||95% (89/94)|
|MGI Phenotype||Strain: 1855968
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lyst||
(F):5'- TATTGTTCCACAGCGGATGGCTGCTC -3'
(R):5'- AGATCCATTCTGAGAGGGAAACGCCAG -3'
(F):5'- GGTTCGATCTAGAAGTCTACCAGC -3'
(R):5'- AGCCCAAGGCTTGCGAC -3'
|Posted On||May 23, 2013|