Incidental Mutation 'IGL00863:G6pc'
ID10864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G6pc
Ensembl Gene ENSMUSG00000078650
Gene Nameglucose-6-phosphatase, catalytic
SynonymsGlc-6-Pase, G6Pase, G6pt, Glc-6-Pase-alpha
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00863
Quality Score
Status
Chromosome11
Chromosomal Location101367561-101377903 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 101370723 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 83 (R83L)
Ref Sequence ENSEMBL: ENSMUSP00000019469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019469]
Predicted Effect probably damaging
Transcript: ENSMUST00000019469
AA Change: R83L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019469
Gene: ENSMUSG00000078650
AA Change: R83L

DomainStartEndE-ValueType
acidPPc 56 196 2.28e-40 SMART
transmembrane domain 214 236 N/A INTRINSIC
transmembrane domain 256 278 N/A INTRINSIC
transmembrane domain 291 308 N/A INTRINSIC
transmembrane domain 323 345 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik A T 18: 57,594,086 E136V probably damaging Het
Bsn A G 9: 108,115,322 I1077T probably damaging Het
Car8 A G 4: 8,183,251 probably null Het
Ccny A T 18: 9,345,444 D143E probably benign Het
Cdh19 A G 1: 110,949,144 V155A probably damaging Het
Cript T A 17: 87,027,723 I14N probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fam49a A T 12: 12,359,234 I72F probably benign Het
Fbln5 A G 12: 101,809,916 V60A probably damaging Het
Fbn1 T A 2: 125,403,219 E249D possibly damaging Het
Grik2 A G 10: 49,355,928 V502A possibly damaging Het
Heatr1 T C 13: 12,435,128 V2001A probably benign Het
Il4i1 T A 7: 44,838,046 Y148* probably null Het
Jmjd4 T C 11: 59,450,743 S113P probably benign Het
Mpp5 A G 12: 78,809,821 D146G probably damaging Het
Nceh1 C T 3: 27,241,313 P241L probably damaging Het
Pcdh10 T A 3: 45,380,302 D350E probably damaging Het
Pdgfrl A G 8: 40,985,534 E169G probably damaging Het
Ppm1l T A 3: 69,317,950 D128E probably damaging Het
Rasa1 A G 13: 85,288,429 V160A probably benign Het
Serf2 T C 2: 121,457,703 probably null Het
Slitrk1 T A 14: 108,911,837 N481Y probably damaging Het
Tas2r139 T G 6: 42,141,121 S62R probably damaging Het
Tdpoz4 A T 3: 93,797,073 T226S probably benign Het
Tvp23b C A 11: 62,883,638 A36E probably damaging Het
Upp2 G A 2: 58,790,064 E301K probably benign Het
Other mutations in G6pc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03068:G6pc APN 11 101370750 missense probably benign 0.01
R1988:G6pc UTSW 11 101367942 missense probably damaging 0.97
R3936:G6pc UTSW 11 101374603 missense probably benign
R4601:G6pc UTSW 11 101372741 missense probably damaging 1.00
R4677:G6pc UTSW 11 101376613 missense probably benign
R6073:G6pc UTSW 11 101367976 missense probably benign
R6304:G6pc UTSW 11 101367909 missense probably damaging 1.00
Posted On2012-12-06