Incidental Mutation 'R4549:Adpgk'
| ID |
500658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adpgk
|
| Ensembl Gene |
ENSMUSG00000025236 |
| Gene Name |
ADP-dependent glucokinase |
| Synonyms |
2610017G09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4549 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
59198855-59223483 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59217511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 175
(V175I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026266
(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: V175I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026266
Gene: ENSMUSG00000025236
AA Change: V175I
| 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 |
possibly damaging
Transcript: ENSMUST00000217570
AA Change: V175I
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
G |
18: 56,665,066 (GRCm39) |
V371A |
probably benign |
Het |
| Ankrd60 |
T |
A |
2: 173,414,395 (GRCm39) |
T125S |
possibly damaging |
Het |
| Ap1m1 |
T |
A |
8: 72,994,064 (GRCm39) |
Y7N |
probably damaging |
Het |
| Carmil3 |
G |
A |
14: 55,743,121 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,819,972 (GRCm39) |
L5235H |
probably damaging |
Het |
| Galnt17 |
A |
G |
5: 131,179,775 (GRCm39) |
L124P |
probably damaging |
Het |
| Gnpda2 |
T |
A |
5: 69,743,872 (GRCm39) |
E54D |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Ly6f |
T |
A |
15: 75,143,579 (GRCm39) |
N95K |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,486 (GRCm39) |
D2425G |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,554,734 (GRCm39) |
E2152K |
possibly damaging |
Het |
| Serpinb6e |
T |
A |
13: 34,017,214 (GRCm39) |
T269S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,758,906 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
C |
A |
12: 74,017,053 (GRCm39) |
D9E |
probably damaging |
Het |
| Syt8 |
G |
T |
7: 141,993,199 (GRCm39) |
V35L |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,067,292 (GRCm39) |
R49G |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,993,749 (GRCm39) |
F286L |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,649,221 (GRCm39) |
K656N |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,214,073 (GRCm39) |
V295A |
probably benign |
Het |
|
| Other mutations in Adpgk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03129:Adpgk
|
APN |
9 |
59,221,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCCTGTGCTACAAACCTCC -3'
(R):5'- CCTGCTAATTGACAGGGACTTC -3'
Sequencing Primer
(F):5'- TCCAAATCAAGAGAAGATTCAGTTGG -3'
(R):5'- TTGACAGGGACTTCTAACACAGTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation