Incidental Mutation 'IGL00863:G6pc1'
ID 10864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G6pc1
Ensembl Gene ENSMUSG00000078650
Gene Name glucose-6-phosphatase catalytic subunit 1
Synonyms G6pc, G6pt, Glc-6-Pase-alpha, Glc-6-Pase, G6Pase
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00863
Quality Score
Status
Chromosome 11
Chromosomal Location 101258542-101268729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101261549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 83 (R83L)
Ref Sequence ENSEMBL: ENSMUSP00000019469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019469]
AlphaFold P35576
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
Bsn A G 9: 107,992,521 (GRCm39) I1077T probably damaging Het
Car8 A G 4: 8,183,251 (GRCm39) probably null Het
Ccdc192 A T 18: 57,727,158 (GRCm39) E136V probably damaging Het
Ccny A T 18: 9,345,444 (GRCm39) D143E probably benign Het
Cdh19 A G 1: 110,876,874 (GRCm39) V155A probably damaging Het
Cript T A 17: 87,335,151 (GRCm39) I14N probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Cyria A T 12: 12,409,235 (GRCm39) I72F probably benign Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Fbln5 A G 12: 101,776,175 (GRCm39) V60A probably damaging Het
Fbn1 T A 2: 125,245,139 (GRCm39) E249D possibly damaging Het
Grik2 A G 10: 49,232,024 (GRCm39) V502A possibly damaging Het
Heatr1 T C 13: 12,450,009 (GRCm39) V2001A probably benign Het
Il4i1 T A 7: 44,487,470 (GRCm39) Y148* probably null Het
Jmjd4 T C 11: 59,341,569 (GRCm39) S113P probably benign Het
Nceh1 C T 3: 27,295,462 (GRCm39) P241L probably damaging Het
Pals1 A G 12: 78,856,595 (GRCm39) D146G probably damaging Het
Pcdh10 T A 3: 45,334,737 (GRCm39) D350E probably damaging Het
Pdgfrl A G 8: 41,438,571 (GRCm39) E169G probably damaging Het
Ppm1l T A 3: 69,225,283 (GRCm39) D128E probably damaging Het
Rasa1 A G 13: 85,436,548 (GRCm39) V160A probably benign Het
Serf2 T C 2: 121,288,184 (GRCm39) probably null Het
Slitrk1 T A 14: 109,149,269 (GRCm39) N481Y probably damaging Het
Tas2r139 T G 6: 42,118,055 (GRCm39) S62R probably damaging Het
Tdpoz4 A T 3: 93,704,380 (GRCm39) T226S probably benign Het
Tvp23b C A 11: 62,774,464 (GRCm39) A36E probably damaging Het
Upp2 G A 2: 58,680,076 (GRCm39) E301K probably benign Het
Other mutations in G6pc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03068:G6pc1 APN 11 101,261,576 (GRCm39) missense probably benign 0.01
R1988:G6pc1 UTSW 11 101,258,768 (GRCm39) missense probably damaging 0.97
R3936:G6pc1 UTSW 11 101,265,429 (GRCm39) missense probably benign
R4601:G6pc1 UTSW 11 101,263,567 (GRCm39) missense probably damaging 1.00
R4677:G6pc1 UTSW 11 101,267,439 (GRCm39) missense probably benign
R6073:G6pc1 UTSW 11 101,258,802 (GRCm39) missense probably benign
R6304:G6pc1 UTSW 11 101,258,735 (GRCm39) missense probably damaging 1.00
R7103:G6pc1 UTSW 11 101,265,413 (GRCm39) splice site probably null
R7143:G6pc1 UTSW 11 101,261,549 (GRCm39) missense probably damaging 1.00
R7438:G6pc1 UTSW 11 101,267,503 (GRCm39) missense probably benign 0.17
R7499:G6pc1 UTSW 11 101,267,520 (GRCm39) nonsense probably null
R7960:G6pc1 UTSW 11 101,267,359 (GRCm39) missense probably damaging 1.00
R8339:G6pc1 UTSW 11 101,267,314 (GRCm39) missense possibly damaging 0.87
R8686:G6pc1 UTSW 11 101,265,533 (GRCm39) critical splice donor site probably null
R9594:G6pc1 UTSW 11 101,258,660 (GRCm39) missense possibly damaging 0.68
R9673:G6pc1 UTSW 11 101,267,380 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06