|Institutional Source||Beutler Lab|
|Gene Name||glucose-6-phosphatase, catalytic|
|Synonyms||Glc-6-Pase, G6Pase, G6pt, Glc-6-Pase-alpha|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7143 (G1)|
|Chromosomal Location||101367561-101377903 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 101370723 bp (GRCm38)|
|Amino Acid Change||Arginine to Leucine at position 83 (R83L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019469 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019469]|
AA Change: R83L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R83L
|Coding Region Coverage||
FUNCTION: The enzyme encoded by this gene is a multisubunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for glucose-6-phosphate, inorganic phosphate, and glucose. This gene is one of three glucose-6-phosphatase catalytic-subunit-encoding genes in mouse. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene tend to die within a couple of weeks of weaning. Blood chemistry and glucose metabolism are abnormal as is glycogen storage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in G6pc||
(F):5'- CGAACTTCTGAAGCTCTATGTTTAGG -3'
(R):5'- CCAATGGCTGTCCTGAAACC -3'
(F):5'- TGAGTAGATAGGACATTCATTCACTG -3'
(R):5'- CCCAAGGTCAGTGCAGAC -3'