Incidental Mutation 'R3936:G6pc1'
| ID |
307180 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3936 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101258542-101268729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101265429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 154
(I154V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019469]
|
| AlphaFold |
P35576 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019469
AA Change: I154V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019469
Gene: ENSMUSG00000078650
AA Change: I154V
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,715,819 (GRCm39) |
K491* |
probably null |
Het |
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,159,209 (GRCm39) |
N203S |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Btnl6 |
T |
A |
17: 34,736,316 (GRCm39) |
H4L |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,001,482 (GRCm39) |
L3835F |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,065 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
G |
T |
16: 36,734,418 (GRCm39) |
E1222* |
probably null |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Gzmk |
A |
T |
13: 113,309,559 (GRCm39) |
S164T |
probably damaging |
Het |
| Il22ra2 |
T |
A |
10: 19,507,456 (GRCm39) |
S156R |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,216 (GRCm39) |
I146N |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,821,359 (GRCm39) |
M1L |
probably benign |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Rptn |
A |
C |
3: 93,302,883 (GRCm39) |
H72P |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,427,193 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,192 (GRCm39) |
E726G |
possibly damaging |
Het |
| Treh |
C |
T |
9: 44,595,840 (GRCm39) |
R342W |
probably benign |
Het |
|
| Other mutations in G6pc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACACAGTCTTTAAGATCTCAAAAT -3'
(R):5'- CCTCTGGCCTTTGATGCTGA -3'
Sequencing Primer
(F):5'- GCTGGGGGATTTCATTCAAAAC -3'
(R):5'- GGCCTTTGATGCTGAAACTAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation