|Institutional Source||Beutler Lab|
|Gene Name||glutamate dehydrogenase 1|
|Is this an essential gene?||Probably essential (E-score: 0.941)|
|Stock #||R8178 (G1)|
|Chromosomal Location||34310727-34345265 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 34343707 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 554 (G554D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022322 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022322]|
|Predicted Effect||probably damaging
AA Change: G554D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: G554D
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a conditionally allele activated in beta cells exhibit reduced glucose-stimulated insulin secretion and disorganization of pancreatic islets. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Glud1||
(F):5'- CGCCTTGTGTTAATAGCCTGC -3'
(R):5'- CACCTAACTGGCTTGGATACACG -3'
(F):5'- AATAGCCTGCTACTCAGTCAGGTG -3'
(R):5'- ATACCATCAGCTTGTACATGATCC -3'