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
CCDS 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
Omim http://omim.org/entry/606897
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000019726
Chromosome 13
Coordinate 13,634,705     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 31
Allele Frequency
T:R0.42
C:V0.55
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02522
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved