|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 #||R1988 (G1)|
|Chromosomal Location||101367561-101377903 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 101367942 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 49 (I49N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019469 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019469]|
|Predicted Effect||probably damaging
AA Change: I49N
PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: I49N
|Meta Mutation Damage Score||0.6489|
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
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'- AGCTTCCTGAGGTACCAAGG -3'
(R):5'- TAGCCATTCCTCATTGCCAG -3'
(F):5'- TCCTGAGGTACCAAGGGAGGAAG -3'
(R):5'- GGATTCTGTAGAGACTCTCAAGCC -3'