Incidental Mutation 'R6304:G6pc1'
ID 509208
Institutional Source Beutler Lab
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
MMRRC Submission 044380-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6304 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101258542-101268729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101258735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 38 (D38G)
Ref Sequence ENSEMBL: ENSMUSP00000019469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019469]
AlphaFold P35576
Predicted Effect probably damaging
Transcript: ENSMUST00000019469
AA Change: D38G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019469
Gene: ENSMUSG00000078650
AA Change: D38G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9b T A 15: 77,619,504 (GRCm39) V100E probably damaging Het
Bin3 A G 14: 70,374,625 (GRCm39) D218G possibly damaging Het
Cbll1 A G 12: 31,544,588 (GRCm39) probably null Het
Cped1 A T 6: 22,016,922 (GRCm39) R90S probably benign Het
Csmd1 A T 8: 16,108,688 (GRCm39) L1905Q probably damaging Het
Dnai4 T C 4: 102,944,553 (GRCm39) E266G probably benign Het
Elapor1 A C 3: 108,368,572 (GRCm39) C806W probably damaging Het
Etaa1 A C 11: 17,897,505 (GRCm39) M204R probably damaging Het
Gramd4 A G 15: 86,019,120 (GRCm39) E596G possibly damaging Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Igsf9b C T 9: 27,253,871 (GRCm39) R1354W probably benign Het
Kcnh3 T C 15: 99,124,919 (GRCm39) V123A probably benign Het
Kcnh7 A T 2: 62,594,960 (GRCm39) Y703* probably null Het
Kdm2b A G 5: 123,019,807 (GRCm39) S260P probably benign Het
Kdm6b G T 11: 69,295,084 (GRCm39) T1061K unknown Het
Lingo4 G A 3: 94,310,513 (GRCm39) G484R probably damaging Het
Lpar1 T C 4: 58,487,013 (GRCm39) Y86C probably damaging Het
Lrrc10b T C 19: 10,434,342 (GRCm39) Q113R probably benign Het
Lrrc8c A T 5: 105,756,475 (GRCm39) N750I probably benign Het
Miip T C 4: 147,947,540 (GRCm39) M207V probably benign Het
Mtcl2 T C 2: 156,882,684 (GRCm39) N456S possibly damaging Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Naip5 C T 13: 100,359,674 (GRCm39) A521T possibly damaging Het
Nrp2 T C 1: 62,784,565 (GRCm39) L238P probably damaging Het
Nup155 T C 15: 8,147,526 (GRCm39) S262P probably damaging Het
Or51k1 G A 7: 103,661,238 (GRCm39) L224F probably damaging Het
Osbpl3 A G 6: 50,289,654 (GRCm39) S604P probably damaging Het
Pcdhb6 C T 18: 37,468,974 (GRCm39) R632* probably null Het
Pcdhb9 T A 18: 37,534,420 (GRCm39) V138E probably damaging Het
Pclo A T 5: 14,727,907 (GRCm39) probably benign Het
Phyhipl A G 10: 70,395,387 (GRCm39) probably null Het
Plcg1 A G 2: 160,603,383 (GRCm39) T1185A possibly damaging Het
Pomt1 T A 2: 32,140,802 (GRCm39) L478Q probably damaging Het
Robo2 T A 16: 73,755,196 (GRCm39) Y779F probably damaging Het
Sesn3 A T 9: 14,233,857 (GRCm39) probably null Het
Sh3gl1 A T 17: 56,343,431 (GRCm39) F10Y probably benign Het
Spata31h1 T A 10: 82,126,202 (GRCm39) K2269N possibly damaging Het
Spsb1 C T 4: 149,991,188 (GRCm39) V127I probably benign Het
Taf4b T C 18: 14,940,412 (GRCm39) I297T probably damaging Het
Trim14 C A 4: 46,522,118 (GRCm39) M186I probably benign Het
Ttn G T 2: 76,746,079 (GRCm39) probably benign Het
Ttn A T 2: 76,721,443 (GRCm39) probably benign Het
Usp54 T C 14: 20,611,036 (GRCm39) D1260G possibly damaging Het
Vmn1r3 T A 4: 3,184,975 (GRCm39) T111S probably damaging Het
Vmn2r51 T C 7: 9,832,164 (GRCm39) Q474R probably benign Het
Other mutations in G6pc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:G6pc1 APN 11 101,261,549 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCAAGGCACAGACTGATAGC -3'
(R):5'- CCTGGTGAACAGTATGGGGTAC -3'

Sequencing Primer
(F):5'- GATCAAGGCCAACCGGG -3'
(R):5'- TACCCCTGCTGGAGGACAG -3'
Posted On 2018-04-02