|Institutional Source||Beutler Lab|
|Synonyms||Hlb62, Gls006, HK4, Gk, MODY2, hexokinase 4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7155 (G1)|
|Chromosomal Location||5900820-5950081 bp(-) (GRCm38)|
|Type of Mutation||start gained|
|DNA Base Change (assembly)||G to A at 5949705 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000099984 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102920]|
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). [provided by RefSeq, Apr 2009]
PHENOTYPE: Targeted disruption of this gene causes mild hyperglycemia in heterozygous mice and extreme hyperglycemia and embryonic to postnatal lethality in homozygous mice. Hyperglycemic knock-out or ENU-induced mutants may show reduced body weight and liver glycogen level, hepatic steatosis, and glucosuria. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gck||
(F):5'- TGTTGGGGACATGCAAACAG -3'
(R):5'- TGTGCTGAGTCCGTCTAGAG -3'
(F):5'- TTGGGGACATGCAAACAGATACTTC -3'
(R):5'- GTTCCTCACAGCTCAGCAGAG -3'