Incidental Mutation 'R6591:Agk'
| ID |
524565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agk
|
| Ensembl Gene |
ENSMUSG00000029916 |
| Gene Name |
acylglycerol kinase |
| Synonyms |
2610037M15Rik, MuLK |
| MMRRC Submission |
044715-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R6591 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
40302106-40373696 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40369624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 337
(D337G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031977]
|
| AlphaFold |
Q9ESW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031977
AA Change: D337G
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031977
Gene: ENSMUSG00000029916
AA Change: D337G
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (34/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
probably benign |
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 |
|
IGL02254:Agk
|
APN |
6 |
40,358,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACTTTCTTCTGCATCAGGC -3'
(R):5'- GAAGGCCAGAATTCCCAGAC -3'
Sequencing Primer
(F):5'- TCTGCATCAGGCTTTCAGAG -3'
(R):5'- CCAGACAGACAAGGCCGTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation