Lgsn - SNV Details



 Human Rare Diseases 
Hyperinsulinism-hyperammonemia syndrome

 Gene Information 
Gene Name Lgsn
Old Gene Names for Lgsn Glud1 , Gluld1
Gene Description glutamate dehydrogenase 1 [Source:MGI Symbol;Acc:MGI:95753]
MGI phenotype Mice homozygous for a conditionally allele activated in beta cells exhibit reduced glucose-stimulated insulin secretion and disorganization of pancreatic islets.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; mitochondrion; enzyme binding; oxidoreductase activity; cellular amino acid metabolic process; response to aluminum ion; protein binding; long-term memory; mitochondrial inner membrane; GTP binding; positive regulation of insulin secretion; ATP binding; mitochondrial matrix; glutamate dehydrogenase [NAD(P)+] activity; glutamate dehydrogenase (NAD+) activity
Homolog in other species GLUD1
Omim http://omim.org/entry/138130
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021794
Chromosome 14
Coordinate 34,319,942     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 26
Allele Frequency
C:R0.46
T:V0.54
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL00973
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved