Gla - SNV Details



 Human Rare Diseases 
Fabry disease

 Gene Information 
Gene Name Gla
Old Gene Names for Gla Ags
Gene Description galactosidase, alpha [Source:MGI Symbol;Acc:MGI:1347344]
MGI phenotype Hemizygous male mutant mice exhibit lamellar inclusions within lysosomes in the kidneys and an accumulation of ceramidetrihexoside in the liver and kidneys, making these mutants a model of Fary disease.
Uniprot Name
CCDS Name
Gene GO
hydrolyzing O-glycosyl compounds
Golgi apparatus
alpha-galactosidase activity
carbohydrate metabolic process
catalytic activity
cytoplasm
extracellular region
galactoside binding
glycosylceramide catabolic process
hydrolase activity
lysosome
Homolog in other species GLA
Omim http://omim.org/entry/300644
Immgen Expression
LOW(HIGH IN MYELOID GOUP, DC8+.TH, DC.LC.SK)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031266
Chromosome X
Coordinate 134,595,198     (Assembly: GRCm38)    
Ref Base C
Codon Change Gta/Tta
Var Base A
Zygosity Heterozygous
Read Depth 13
Allele Frequency
C:0.54
A:0.46
Amino Acid Position 179
Amino Acid Change V->L (Valine -> Leucine)
Sample ID IGL00847
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 24 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000033621:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Glycoside hydrolase, superfamily Glycoside_hydrolase_SF IPR017853 ENSMUSP00000033621 Superfamily 34
325 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved