Incidental Mutation 'IGL00958:Gckr'
| ID |
27481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gckr
|
| Ensembl Gene |
ENSMUSG00000059434 |
| Gene Name |
glucokinase regulatory protein |
| Synonyms |
GKRP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00958
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31454787-31484658 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 31456129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041266]
[ENSMUST00000072228]
[ENSMUST00000172435]
[ENSMUST00000201166]
[ENSMUST00000201417]
[ENSMUST00000201675]
[ENSMUST00000202615]
|
| AlphaFold |
Q91X44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041266
|
| SMART Domains |
Protein: ENSMUSP00000047185
Gene: ENSMUSG00000038552
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
43 |
123 |
4.35e-11 |
SMART |
|
transmembrane domain
|
161 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000072228
|
| SMART Domains |
Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
584 |
N/A |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172435
|
| SMART Domains |
Protein: ENSMUSP00000127404
Gene: ENSMUSG00000038552
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
43 |
123 |
4.35e-11 |
SMART |
|
transmembrane domain
|
161 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200845
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201166
|
| SMART Domains |
Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
620 |
N/A |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201417
|
| SMART Domains |
Protein: ENSMUSP00000144142
Gene: ENSMUSG00000038552
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
FN3
|
43 |
118 |
9.4e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201675
|
| SMART Domains |
Protein: ENSMUSP00000144568
Gene: ENSMUSG00000059434
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
120 |
7e-64 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202456
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202615
|
| SMART Domains |
Protein: ENSMUSP00000144195
Gene: ENSMUSG00000038552
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
FN3
|
43 |
123 |
2.2e-13 |
SMART |
|
transmembrane domain
|
161 |
183 |
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 a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced glucokinase protein levels and activity in the liver and altered glucose homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
T |
10: 29,103,324 (GRCm39) |
R635M |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,294 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
| Cdk5rap3 |
T |
C |
11: 96,800,793 (GRCm39) |
N348D |
probably benign |
Het |
| Cep295nl |
G |
A |
11: 118,224,730 (GRCm39) |
T38I |
probably damaging |
Het |
| Col3a1 |
T |
G |
1: 45,366,755 (GRCm39) |
S232A |
unknown |
Het |
| Ddx1 |
T |
C |
12: 13,290,849 (GRCm39) |
|
probably null |
Het |
| Gm5800 |
A |
G |
14: 51,951,269 (GRCm39) |
L110P |
possibly damaging |
Het |
| H2ac25 |
G |
T |
11: 58,845,766 (GRCm39) |
G68V |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,516 (GRCm39) |
I253V |
probably benign |
Het |
| Or10q1b |
G |
A |
19: 13,683,096 (GRCm39) |
V302I |
probably benign |
Het |
| Or13a28 |
T |
A |
7: 140,218,169 (GRCm39) |
L185H |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,266,928 (GRCm39) |
I47V |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,319,565 (GRCm39) |
*313Q |
probably null |
Het |
| Or51a42 |
T |
C |
7: 103,708,620 (GRCm39) |
Y63C |
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,320 (GRCm39) |
V153A |
probably benign |
Het |
| Pias3 |
C |
T |
3: 96,606,738 (GRCm39) |
|
probably benign |
Het |
| Ppox |
A |
G |
1: 171,105,453 (GRCm39) |
|
probably null |
Het |
| Raet1d |
A |
G |
10: 22,246,791 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rcan2 |
G |
A |
17: 44,347,908 (GRCm39) |
V206I |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,270,864 (GRCm39) |
Y288H |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,671,049 (GRCm39) |
L545P |
probably damaging |
Het |
| Tmem145 |
T |
G |
7: 25,006,782 (GRCm39) |
|
probably null |
Het |
| Trib2 |
T |
C |
12: 15,843,634 (GRCm39) |
E336G |
possibly damaging |
Het |
|
| Other mutations in Gckr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Gckr
|
APN |
5 |
31,456,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00325:Gckr
|
APN |
5 |
31,465,111 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01102:Gckr
|
APN |
5 |
31,466,381 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01380:Gckr
|
APN |
5 |
31,456,977 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01780:Gckr
|
APN |
5 |
31,465,134 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02110:Gckr
|
APN |
5 |
31,456,082 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02187:Gckr
|
APN |
5 |
31,464,768 (GRCm39) |
splice site |
probably benign |
|
|
IGL02350:Gckr
|
APN |
5 |
31,465,134 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02357:Gckr
|
APN |
5 |
31,465,134 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02600:Gckr
|
APN |
5 |
31,462,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02616:Gckr
|
APN |
5 |
31,484,419 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02803:Gckr
|
APN |
5 |
31,455,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0004:Gckr
|
UTSW |
5 |
31,454,933 (GRCm39) |
unclassified |
probably benign |
|
|
R0079:Gckr
|
UTSW |
5 |
31,463,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0165:Gckr
|
UTSW |
5 |
31,484,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0853:Gckr
|
UTSW |
5 |
31,462,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Gckr
|
UTSW |
5 |
31,484,259 (GRCm39) |
splice site |
probably benign |
|
|
R2174:Gckr
|
UTSW |
5 |
31,484,353 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2212:Gckr
|
UTSW |
5 |
31,458,211 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2892:Gckr
|
UTSW |
5 |
31,483,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3412:Gckr
|
UTSW |
5 |
31,458,211 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3413:Gckr
|
UTSW |
5 |
31,458,211 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3764:Gckr
|
UTSW |
5 |
31,483,842 (GRCm39) |
splice site |
probably benign |
|
|
R4608:Gckr
|
UTSW |
5 |
31,465,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4757:Gckr
|
UTSW |
5 |
31,464,728 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4814:Gckr
|
UTSW |
5 |
31,455,644 (GRCm39) |
nonsense |
probably null |
|
|
R4953:Gckr
|
UTSW |
5 |
31,465,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Gckr
|
UTSW |
5 |
31,463,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Gckr
|
UTSW |
5 |
31,459,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7665:Gckr
|
UTSW |
5 |
31,454,899 (GRCm39) |
|
|
|
|
R7684:Gckr
|
UTSW |
5 |
31,465,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:Gckr
|
UTSW |
5 |
31,466,447 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8925:Gckr
|
UTSW |
5 |
31,456,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8927:Gckr
|
UTSW |
5 |
31,456,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9045:Gckr
|
UTSW |
5 |
31,457,353 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9628:Gckr
|
UTSW |
5 |
31,457,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Gckr
|
UTSW |
5 |
31,466,399 (GRCm39) |
missense |
probably benign |
|
|
R9803:Gckr
|
UTSW |
5 |
31,457,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gckr
|
UTSW |
5 |
31,458,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-04-17 |
Incidental Mutation