Incidental Mutation 'IGL03129:Adpgk'
| ID |
410241 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adpgk
|
| Ensembl Gene |
ENSMUSG00000025236 |
| Gene Name |
ADP-dependent glucokinase |
| Synonyms |
2610017G09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
59198855-59223483 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59221088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 298
(L298P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026266]
[ENSMUST00000217570]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026266
AA Change: L298P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026266
Gene: ENSMUSG00000025236
AA Change: L298P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ADP_PFK_GK
|
73 |
490 |
1.9e-140 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215994
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217570
AA Change: L298P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,238 (GRCm39) |
V403A |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,089 (GRCm39) |
D1501V |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,791,061 (GRCm39) |
Y2478* |
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,749,584 (GRCm39) |
Y417H |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,011,521 (GRCm39) |
F2511L |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,762,446 (GRCm39) |
M602V |
possibly damaging |
Het |
| Efna2 |
G |
A |
10: 80,024,346 (GRCm39) |
|
probably null |
Het |
| Fzd8 |
T |
C |
18: 9,214,270 (GRCm39) |
S451P |
probably damaging |
Het |
| Galntl6 |
A |
T |
8: 58,880,750 (GRCm39) |
D134E |
probably damaging |
Het |
| Grid2 |
T |
C |
6: 64,040,888 (GRCm39) |
S277P |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,277,716 (GRCm39) |
V91A |
possibly damaging |
Het |
| Lrp1b |
G |
A |
2: 41,202,478 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,866,696 (GRCm39) |
Y1015F |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,729,994 (GRCm39) |
C2779S |
possibly damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,524,118 (GRCm39) |
F454Y |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,684 (GRCm39) |
L213Q |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,087 (GRCm39) |
Y58F |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,248,043 (GRCm39) |
M486V |
probably benign |
Het |
| Plcg1 |
A |
C |
2: 160,616,446 (GRCm39) |
|
probably null |
Het |
| Polr1b |
G |
A |
2: 128,957,627 (GRCm39) |
V561I |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,626,770 (GRCm39) |
|
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,562,681 (GRCm39) |
K523* |
probably null |
Het |
| Prss3l |
T |
C |
6: 41,420,432 (GRCm39) |
N98S |
probably benign |
Het |
| Sema3b |
T |
A |
9: 107,476,995 (GRCm39) |
|
probably benign |
Het |
| Sp9 |
A |
G |
2: 73,103,865 (GRCm39) |
T140A |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,493,631 (GRCm39) |
R471G |
probably damaging |
Het |
|
| Other mutations in Adpgk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4531001:Adpgk
|
UTSW |
9 |
59,217,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1103:Adpgk
|
UTSW |
9 |
59,221,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1158:Adpgk
|
UTSW |
9 |
59,217,566 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1857:Adpgk
|
UTSW |
9 |
59,222,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2363:Adpgk
|
UTSW |
9 |
59,222,136 (GRCm39) |
missense |
probably benign |
|
|
R2483:Adpgk
|
UTSW |
9 |
59,221,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3623:Adpgk
|
UTSW |
9 |
59,221,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4549:Adpgk
|
UTSW |
9 |
59,217,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Adpgk
|
UTSW |
9 |
59,222,561 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5426:Adpgk
|
UTSW |
9 |
59,204,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7055:Adpgk
|
UTSW |
9 |
59,220,476 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7348:Adpgk
|
UTSW |
9 |
59,221,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7901:Adpgk
|
UTSW |
9 |
59,222,300 (GRCm39) |
missense |
probably benign |
|
|
R8706:Adpgk
|
UTSW |
9 |
59,222,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8892:Adpgk
|
UTSW |
9 |
59,217,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation