Agl - SNV Details



 Human Rare Diseases 
Glycogen storage disease due to glycogen debranching enzyme deficiency

 Gene Information 
Gene Name Agl
Old Gene Names for Agl 1110061o17rik , 9430004c13rik , 9630046l06rik , Ai850929 , C77197
Gene Description amylo-1,6-glucosidase, 4-alpha-glucanotransferase [Source:MGI Symbol;Acc:MGI:1924809]
Uniprot Name
CCDS Name
Gene GO
catalytic activity; sarcoplasmic reticulum; response to hormone stimulus; cytoplasm; glycogen debranching enzyme activity; amylo-alpha-1
6-glucosidase activity; glycogen metabolic process; response to glucocorticoid stimulus; protein binding; 4-alpha-glucanotransferase activity; nucleus; polyubiquitin binding; carbohydrate binding; inclusion body; polysaccharide binding; glycogen catabolic process; glycogen biosynthetic process; cation binding; response to nutrient
Homolog in other species AGL
Omim http://omim.org/entry/610860
Immgen Expression
MEDIAN(HIGH IN GN.BM)
Gnf Expression
MEDIAN
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033400
Chromosome 3
Coordinate 116,772,820     (Assembly: GRCm38)    
Ref Base A
Codon Change Tgg/Cgg
Var Base G
Zygosity Heterozygous
Read Depth 29
Allele Frequency
A:R0.38
G:V0.62
Amino Acid Position 965
Amino Acid Change W->R (Tryptophan -> Arginine)
Sample ID IGL00500
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000044012:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Glycogen debranching enzyme, metazoa Glycogen_debranch_met IPR006421 ENSMUSP00000044012 TIGRfam 22
1532 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved