Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:G6pc'

568420

Institutional Source

Beutler Lab

Gene Symbol

G6pc

Ensembl Gene

ENSMUSG00000078650

Gene Name

glucose-6-phosphatase, catalytic

Synonyms

Glc-6-Pase, G6Pase, G6pt, Glc-6-Pase-alpha

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101367561-101377903 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 101374587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019469]

AlphaFold

P35576

Predicted Effect

probably null
Transcript: ENSMUST00000019469

SMART Domains

Protein: ENSMUSP00000019469
Gene: ENSMUSG00000078650

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,737,354	T294A	probably damaging	Het
Adamtsl2	G	A	2: 27,107,461	V893I	probably damaging	Het
Amph	T	A	13: 19,149,738	D656E	probably benign	Het
Aoah	T	C	13: 21,023,315	F568S	probably damaging	Het
Atr	G	A	9: 95,865,372	G236S	probably damaging	Het
Brd3	T	A	2: 27,450,394	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,141,977	E524G	probably damaging	Het
Cog2	T	C	8: 124,541,114		probably null	Het
Csnka2ip	C	A	16: 64,478,757	V415F	unknown	Het
Dmp1	A	T	5: 104,211,863	D135V	probably damaging	Het
Dtna	T	C	18: 23,653,379		probably null	Het
Endou	A	G	15: 97,718,929	S238P	probably damaging	Het
Ep400	T	A	5: 110,733,785	E779D	unknown	Het
Fcgbp	A	G	7: 28,084,962	E149G	probably benign	Het
Gm13119	C	T	4: 144,363,727	R446C	probably benign	Het
Gm9573	C	A	17: 35,621,540	A585S	unknown	Het
Gmeb1	T	C	4: 132,234,868	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,401,606	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,254,511	G199D	probably benign	Het
Hoxb2	T	C	11: 96,353,621	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,325,074	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,540,583		probably null	Het
Kcnmb4	T	C	10: 116,473,259	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,077,785	Y89C	probably damaging	Het
Kif23	T	A	9: 61,919,892	K892N	probably damaging	Het
Lama3	T	A	18: 12,531,879	S646T	probably benign	Het
Lig3	T	A	11: 82,797,312	M709K	probably benign	Het
Mgea5	G	A	19: 45,783,166		probably benign	Het
Mindy3	C	A	2: 12,401,074	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,149,283	E569G	possibly damaging	Het
Misp	T	A	10: 79,827,165	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,601,410	T303S	probably damaging	Het
Msh3	T	G	13: 92,274,800	I630L	probably benign	Het
Myo16	A	G	8: 10,569,673	Y1408C	unknown	Het
N4bp2	T	C	5: 65,806,846	V746A	probably benign	Het
Olfr1225	A	G	2: 89,170,483	I243T	possibly damaging	Het
Olfr1423	A	G	19: 12,036,388	M118T	probably damaging	Het
Olfr477	A	G	7: 107,990,598	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,596,351	M44I	probably null	Het
Pik3c2b	T	G	1: 133,105,974	L1572R	probably damaging	Het
Pilra	T	C	5: 137,831,226	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,573,631	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,066,655	D619G	probably benign	Het
Ptprb	T	A	10: 116,338,813	Y797N	probably damaging	Het
Rb1	T	C	14: 73,262,644	D521G	probably damaging	Het
Rnf17	T	G	14: 56,471,306	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,311,471	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,353,867	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,543,857	V634A	probably benign	Het
Spam1	A	G	6: 24,800,584	M441V	probably benign	Het
Teddm3	A	C	16: 21,152,979	L280*	probably null	Het
Tmem231	T	C	8: 111,918,885		probably null	Het
Tom1l1	T	C	11: 90,671,081		probably null	Het
Topors	C	T	4: 40,261,706	G526D	probably benign	Het
Trpm6	A	T	19: 18,813,547	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,774,428	M66L	probably benign	Het
Tubgcp6	A	G	15: 89,101,029	F1619L	probably damaging	Het
Vps13d	G	T	4: 145,115,492	A2619E		Het
Vps8	G	A	16: 21,526,441	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,800	M86L	probably benign	Het
Zfp64	A	T	2: 168,926,437	D418E	probably benign	Het
Zfp952	C	T	17: 33,003,632	P362S	possibly damaging	Het
Zglp1	T	C	9: 21,066,072	E149G	probably benign	Het

Other mutations in G6pc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:G6pc	APN	11	101370723	missense	probably damaging	1.00
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
R7143:G6pc	UTSW	11	101370723	missense	probably damaging	1.00
R7438:G6pc	UTSW	11	101376677	missense	probably benign	0.17
R7499:G6pc	UTSW	11	101376694	nonsense	probably null
R7960:G6pc	UTSW	11	101376533	missense	probably damaging	1.00
R8339:G6pc	UTSW	11	101376488	missense	possibly damaging	0.87
R8686:G6pc	UTSW	11	101374707	critical splice donor site	probably null
R9594:G6pc	UTSW	11	101367834	missense	possibly damaging	0.68
R9673:G6pc	UTSW	11	101376554	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACACAGTCTTTAAGATCTCAAAAT -3'
(R):5'- ACCTCTGGCCTTTGATGCTG -3'

Sequencing Primer
(F):5'- CTGGAGACCAAGTATTCAAATACCTG -3'
(R):5'- GGCCTTTGATGCTGAAACTAC -3'

Posted On

2019-07-17