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)
|
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
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |