Mutagenetix > Incidental Mutation

Incidental Mutation 'R9105:G6pc3'

691974

Institutional Source

Beutler Lab

Gene Symbol

G6pc3

Ensembl Gene

ENSMUSG00000034793

Gene Name

glucose 6 phosphatase, catalytic, 3

Synonyms

0710001K01Rik

MMRRC Submission

068917-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102080525-102084907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102084403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 271 (A271V)

Ref Sequence

ENSEMBL: ENSMUSP00000064276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008999] [ENSMUST00000070334] [ENSMUST00000078975] [ENSMUST00000107150] [ENSMUST00000107151] [ENSMUST00000107152] [ENSMUST00000124077] [ENSMUST00000140962]

AlphaFold

Q6NSQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000008999

SMART Domains

Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	58	75	N/A	INTRINSIC
Pfam:HDAC4_Gln	86	174	1e-30	PFAM
low complexity region	233	247	N/A	INTRINSIC
low complexity region	322	337	N/A	INTRINSIC
low complexity region	502	541	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
coiled coil region	583	617	N/A	INTRINSIC
Pfam:Hist_deacetyl	704	1034	1.4e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070334
AA Change: A271V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000064276
Gene: ENSMUSG00000034793
AA Change: A271V

Domain	Start	End	E-Value	Type
acidPPc	53	187	2.53e-15	SMART
transmembrane domain	196	218	N/A	INTRINSIC
transmembrane domain	284	302	N/A	INTRINSIC
transmembrane domain	317	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078975
AA Change: A271V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000077995
Gene: ENSMUSG00000034793
AA Change: A271V

Domain	Start	End	E-Value	Type
acidPPc	53	187	2.53e-15	SMART
transmembrane domain	196	218	N/A	INTRINSIC
transmembrane domain	284	302	N/A	INTRINSIC
transmembrane domain	317	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107150

SMART Domains

Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	39	56	N/A	INTRINSIC
Pfam:HDAC4_Gln	66	155	5.1e-37	PFAM
low complexity region	214	228	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC
low complexity region	483	522	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
coiled coil region	564	598	N/A	INTRINSIC
Pfam:Hist_deacetyl	685	1015	9.4e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107151

SMART Domains

Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Pfam:HDAC4_Gln	67	156	1.1e-37	PFAM
low complexity region	215	229	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
low complexity region	484	523	N/A	INTRINSIC
low complexity region	542	559	N/A	INTRINSIC
coiled coil region	565	599	N/A	INTRINSIC
Pfam:Hist_deacetyl	618	931	1.2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107152

SMART Domains

Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Pfam:HDAC4_Gln	67	156	3.7e-37	PFAM
low complexity region	215	229	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
low complexity region	484	523	N/A	INTRINSIC
low complexity region	542	559	N/A	INTRINSIC
coiled coil region	565	599	N/A	INTRINSIC
Pfam:Hist_deacetyl	686	1016	6.4e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124077

SMART Domains

Protein: ENSMUSP00000116672
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	37	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140962

SMART Domains

Protein: ENSMUSP00000115435
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
PDB:2VQQ\|B	1	71	3e-21	PDB
transmembrane domain	118	135	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutation of this gene results in females, but not males, that are growth retarded and weight less and exhibit elevated plasma glucagon levels but lowered plasma cholesterols after fasting. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,439,407 (GRCm39)	K139*	probably null	Het
Acsl5	A	T	19: 55,269,002 (GRCm39)	K221I	probably benign	Het
Actrt2	G	A	4: 154,751,677 (GRCm39)	T153I	probably damaging	Het
Adam34	C	T	8: 44,103,785 (GRCm39)	C620Y	probably damaging	Het
Adgrl2	T	C	3: 148,543,289 (GRCm39)	K812E	possibly damaging	Het
Aig1	T	C	10: 13,529,339 (GRCm39)	T224A	probably benign	Het
Apbb2	G	T	5: 66,460,015 (GRCm39)	S694*	probably null	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Bcl3	T	A	7: 19,543,175 (GRCm39)	I352F	probably damaging	Het
Btbd19	C	T	4: 116,977,961 (GRCm39)	R276Q	probably damaging	Het
Btnl9	G	A	11: 49,066,461 (GRCm39)	P368S	probably benign	Het
Calhm5	A	G	10: 33,968,144 (GRCm39)	V303A	probably benign	Het
Ccdc97	T	C	7: 25,412,537 (GRCm39)	T302A	probably benign	Het
Cdh11	T	C	8: 103,360,968 (GRCm39)	D790G	probably damaging	Het
Cep350	T	C	1: 155,835,561 (GRCm39)	N45S	probably damaging	Het
Col5a2	T	A	1: 45,419,366 (GRCm39)	Y1238F	probably benign	Het
Ctdspl2	C	T	2: 121,837,351 (GRCm39)	L373F	probably damaging	Het
Dolpp1	A	T	2: 30,289,152 (GRCm39)		probably null	Het
Efr3b	A	T	12: 4,031,782 (GRCm39)	L340Q	probably damaging	Het
Ehd4	T	C	2: 119,932,760 (GRCm39)	N222S	probably damaging	Het
Fgf8	A	C	19: 45,730,490 (GRCm39)		probably benign	Het
Frmd4a	A	G	2: 4,539,994 (GRCm39)	I205V	probably damaging	Het
Gab1	T	C	8: 81,515,589 (GRCm39)	D243G	probably damaging	Het
Gbp9	A	G	5: 105,241,942 (GRCm39)	I205T	probably benign	Het
Gtf2b	T	A	3: 142,489,050 (GRCm39)	F304Y	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ip6k3	A	G	17: 27,364,169 (GRCm39)	L293P	probably damaging	Het
Itgb7	A	G	15: 102,135,904 (GRCm39)	S44P	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lancl1	T	A	1: 67,043,962 (GRCm39)	Y346F	possibly damaging	Het
Lca5l	T	G	16: 95,960,671 (GRCm39)	E602A	probably damaging	Het
Lcor	G	A	19: 41,573,311 (GRCm39)	A689T	possibly damaging	Het
Lrp1b	A	G	2: 41,396,803 (GRCm39)	V421A		Het
Lrrtm3	A	G	10: 63,924,336 (GRCm39)	V277A	possibly damaging	Het
Lypla1	T	C	1: 4,911,282 (GRCm39)	L189P	probably damaging	Het
Msantd3	A	T	4: 48,560,963 (GRCm39)	N180Y	possibly damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Myo19	T	C	11: 84,794,029 (GRCm39)	I651T	probably damaging	Het
Ndst2	T	C	14: 20,780,070 (GRCm39)	S57G	probably benign	Het
Or12d16-ps1	C	T	17: 37,705,731 (GRCm39)	T100I	probably benign	Het
Or1j14	A	G	2: 36,418,294 (GRCm39)	Y290C	probably damaging	Het
Or4c117	C	T	2: 88,955,995 (GRCm39)	V27I	probably benign	Het
Or6p1	T	A	1: 174,258,861 (GRCm39)	I289N	probably damaging	Het
Pik3c2a	T	C	7: 115,972,049 (GRCm39)	T794A	probably benign	Het
Pla2g6	T	A	15: 79,183,397 (GRCm39)		probably null	Het
Pnrc1	C	A	4: 33,246,207 (GRCm39)	G251*	probably null	Het
Pramel14	A	T	4: 143,718,595 (GRCm39)		probably benign	Het
Psg17	A	T	7: 18,555,333 (GRCm39)	V3E	probably benign	Het
Psmb9	A	T	17: 34,401,905 (GRCm39)		probably benign	Het
Slc12a5	A	G	2: 164,838,114 (GRCm39)	T982A	probably benign	Het
Srrd	T	C	5: 112,485,465 (GRCm39)	D286G	possibly damaging	Het
Tcp10b	T	C	17: 13,285,236 (GRCm39)	S153P	probably benign	Het
Tmem131	C	A	1: 36,854,591 (GRCm39)	S886I	probably benign	Het
Ttk	T	A	9: 83,745,544 (GRCm39)	D630E	probably damaging	Het
Vnn3	T	C	10: 23,740,461 (GRCm39)	W255R	probably damaging	Het
Vps13c	T	G	9: 67,778,081 (GRCm39)		probably benign	Het
Wdfy3	T	C	5: 102,030,512 (GRCm39)	Q2332R	probably benign	Het
Xkr8	A	T	4: 132,459,648 (GRCm39)	Y43*	probably null	Het

Other mutations in G6pc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:G6pc3	APN	11	102,083,931 (GRCm39)	missense	probably benign	0.01
PIT4378001:G6pc3	UTSW	11	102,080,827 (GRCm39)	missense	probably damaging	1.00
R1121:G6pc3	UTSW	11	102,080,768 (GRCm39)	missense	possibly damaging	0.49
R4844:G6pc3	UTSW	11	102,084,057 (GRCm39)	splice site	probably null
R6736:G6pc3	UTSW	11	102,084,496 (GRCm39)	missense	possibly damaging	0.62
R8520:G6pc3	UTSW	11	102,083,934 (GRCm39)	missense	probably benign	0.02
R8871:G6pc3	UTSW	11	102,082,896 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTTGTGAGATGGCTACAAG -3'
(R):5'- ACTCAATGTGTGCACCACC -3'

Sequencing Primer
(F):5'- AGTGGCTCTCTGGATCCC -3'
(R):5'- ATGTGTGCACCACCCAGGG -3'

Posted On

2021-12-30