Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00786:G6pc3'

13486

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

G6pc3

Ensembl Gene

ENSMUSG00000034793

Gene Name

glucose 6 phosphatase, catalytic, 3

Synonyms

0710001K01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00786

Quality Score

Status

Chromosome

Chromosomal Location

102080525-102084907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102083931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 186 (M186V)

Ref Sequence

ENSEMBL: ENSMUSP00000077995 (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: M186V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000064276
Gene: ENSMUSG00000034793
AA Change: M186V

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: M186V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000077995
Gene: ENSMUSG00000034793
AA Change: M186V

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

noncoding transcript
Transcript: ENSMUST00000140481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124594

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

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,265,851 (GRCm39)	N242S	probably benign	Het
Akap9	C	A	5: 4,120,522 (GRCm39)	A3646E	probably damaging	Het
Akt1	C	A	12: 112,624,105 (GRCm39)	G233V	probably damaging	Het
B3gat3	A	G	19: 8,904,149 (GRCm39)	E320G	probably benign	Het
Bltp3a	T	A	17: 28,098,266 (GRCm39)	I136N	probably damaging	Het
Bpifa5	G	A	2: 154,009,172 (GRCm39)	C238Y	probably damaging	Het
Camkmt	T	C	17: 85,403,919 (GRCm39)	V47A	probably damaging	Het
Ccnl2	C	T	4: 155,905,337 (GRCm39)	R284W	probably damaging	Het
Chl1	G	T	6: 103,652,106 (GRCm39)	V341F	probably damaging	Het
Cst3	A	T	2: 148,714,797 (GRCm39)	C93*	probably null	Het
Ctsh	T	C	9: 89,946,291 (GRCm39)	V119A	probably damaging	Het
Dmap1	C	T	4: 117,533,593 (GRCm39)	R225Q	possibly damaging	Het
Ehbp1	A	G	11: 22,050,460 (GRCm39)	S479P	possibly damaging	Het
Eml2	A	G	7: 18,936,507 (GRCm39)	Y528C	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Gpr37	A	G	6: 25,669,317 (GRCm39)	V509A	possibly damaging	Het
Heatr5b	G	T	17: 79,132,063 (GRCm39)	H347N	possibly damaging	Het
Idh1	A	G	1: 65,205,402 (GRCm39)	S188P	probably damaging	Het
Mphosph8	T	C	14: 56,910,001 (GRCm39)	V118A	probably benign	Het
Mthfsd	C	T	8: 121,831,207 (GRCm39)	R91Q	probably damaging	Het
Otor	G	A	2: 142,921,846 (GRCm39)	V86I	probably damaging	Het
Pdk2	T	A	11: 94,922,761 (GRCm39)	T140S	probably benign	Het
Pnliprp2	A	G	19: 58,748,929 (GRCm39)	N78S	probably benign	Het
Rimbp3	C	T	16: 17,029,552 (GRCm39)	T992M	probably damaging	Het
Sdad1	A	T	5: 92,451,632 (GRCm39)		probably null	Het
Sidt2	A	G	9: 45,861,101 (GRCm39)	S71P	possibly damaging	Het
Slc44a2	T	A	9: 21,257,231 (GRCm39)	V390E	probably damaging	Het
Tmem168	T	C	6: 13,602,674 (GRCm39)	I231V	probably benign	Het
Vim	T	C	2: 13,583,321 (GRCm39)		probably null	Het

Other mutations in G6pc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9105:G6pc3	UTSW	11	102,084,403 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06