Lyst - SNV Details

 Human Rare Diseases 
Chediak-Higashi syndrome

 Gene Information 
Gene Name Lyst
Old Gene Names for Lyst D13sfk13
Gene Description lysosomal trafficking regulator [Source:MGI Symbol;Acc:MGI:107448]
MGI 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.
Uniprot Name
Gene GO
melanosome organization; secretion of lysosomal enzymes; phospholipid homeostasis; mast cell secretory granule organization; blood coagulation; natural killer cell mediated cytotoxicity; protein binding; defense response to protozoan; binding; cytosol; defense response to bacterium; microtubule-based process; response to drug; pigmentation; positive regulation of natural killer cell activation; lysosome organization; microtubule cytoskeleton; neutrophil mediated immunity; defense response to virus; pigment granule organization; T cell mediated immunity; leukocyte chemotaxis; phospholipid metabolic process; endosome to lysosome transport via multivesicular body sorting pathway
Homolog in other species LYST
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000019726
Chromosome 13
Coordinate 13,638,092     (Assembly: GRCm38)    
Ref Base G
Codon Change Gag/Tag
Var Base T
Zygosity Heterozygous
Read Depth 20
Allele Frequency
Amino Acid Position 1030
Amino Acid Change E->Stop (Glutamic acid -> Stop)
Sample ID IGL02297
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 19 Other Mutations

Polyphen Prediction N/A

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000106188 Superfamily 401
2376 Description available Search pathways

 Availability Details 
Availability Cryopreserved