Incidental Mutation 'IGL02254:Agk'
| ID |
286543 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agk
|
| Ensembl Gene |
ENSMUSG00000029916 |
| Gene Name |
acylglycerol kinase |
| Synonyms |
2610037M15Rik, MuLK |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
IGL02254
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
40302106-40373696 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40358180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 211
(W211R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031977]
|
| AlphaFold |
Q9ESW4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031977
AA Change: W211R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031977
Gene: ENSMUSG00000029916
AA Change: W211R
| Domain | Start | End | E-Value | Type |
|---|
|
DAGKc
|
62 |
193 |
1.9e-6 |
SMART |
|
low complexity region
|
257 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201751
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1b |
T |
C |
2: 24,506,827 (GRCm39) |
|
probably null |
Het |
| Calcrl |
A |
G |
2: 84,178,552 (GRCm39) |
W259R |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,961,238 (GRCm39) |
C1911S |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,661,143 (GRCm39) |
|
probably benign |
Het |
| Csad |
C |
A |
15: 102,094,872 (GRCm39) |
G63* |
probably null |
Het |
| H2bc8 |
G |
T |
13: 23,755,609 (GRCm39) |
M1I |
probably null |
Het |
| Hc |
G |
A |
2: 34,874,836 (GRCm39) |
A115V |
probably damaging |
Het |
| Hepacam2 |
T |
A |
6: 3,483,421 (GRCm39) |
H196L |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,533 (GRCm39) |
E640K |
probably damaging |
Het |
| Mrgprx2 |
G |
A |
7: 48,132,686 (GRCm39) |
T10I |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,777,109 (GRCm39) |
Y912H |
probably damaging |
Het |
| Plin4 |
G |
T |
17: 56,411,733 (GRCm39) |
T766K |
probably damaging |
Het |
| Ric8b |
A |
G |
10: 84,816,000 (GRCm39) |
D417G |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,371,733 (GRCm39) |
Q4846P |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,580,449 (GRCm39) |
Q320R |
possibly damaging |
Het |
| Slc35f3 |
A |
G |
8: 127,115,862 (GRCm39) |
E263G |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,896,264 (GRCm39) |
W564R |
probably benign |
Het |
| Taf4 |
C |
T |
2: 179,562,977 (GRCm39) |
V965M |
probably benign |
Het |
| Trpc3 |
C |
T |
3: 36,705,669 (GRCm39) |
G509R |
probably null |
Het |
| Ttn |
T |
C |
2: 76,708,309 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
G |
T |
2: 166,897,643 (GRCm39) |
T427N |
probably damaging |
Het |
|
| Other mutations in Agk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02019:Agk
|
APN |
6 |
40,353,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02309:Agk
|
APN |
6 |
40,353,210 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL03371:Agk
|
APN |
6 |
40,371,576 (GRCm39) |
missense |
probably benign |
|
|
R1145:Agk
|
UTSW |
6 |
40,329,372 (GRCm39) |
splice site |
probably benign |
|
|
R1470:Agk
|
UTSW |
6 |
40,363,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Agk
|
UTSW |
6 |
40,363,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Agk
|
UTSW |
6 |
40,364,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2011:Agk
|
UTSW |
6 |
40,353,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3552:Agk
|
UTSW |
6 |
40,371,615 (GRCm39) |
missense |
probably benign |
|
|
R4853:Agk
|
UTSW |
6 |
40,360,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6367:Agk
|
UTSW |
6 |
40,363,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6591:Agk
|
UTSW |
6 |
40,369,624 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6691:Agk
|
UTSW |
6 |
40,369,624 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6753:Agk
|
UTSW |
6 |
40,345,504 (GRCm39) |
splice site |
probably null |
|
|
R7299:Agk
|
UTSW |
6 |
40,306,451 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7301:Agk
|
UTSW |
6 |
40,306,451 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7757:Agk
|
UTSW |
6 |
40,353,212 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8063:Agk
|
UTSW |
6 |
40,306,490 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8773:Agk
|
UTSW |
6 |
40,334,050 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8795:Agk
|
UTSW |
6 |
40,363,854 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2015-04-16 |
Incidental Mutation