Incidental Mutation 'R1145:Agk'
ID |
165064 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agk
|
Ensembl Gene |
ENSMUSG00000029916 |
Gene Name |
acylglycerol kinase |
Synonyms |
2610037M15Rik, MuLK |
MMRRC Submission |
039218-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.630)
|
Stock # |
R1145 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
40302106-40373696 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 40329372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031977]
[ENSMUST00000200715]
|
AlphaFold |
Q9ESW4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031977
|
SMART Domains |
Protein: ENSMUSP00000031977 Gene: ENSMUSG00000029916
Domain | Start | End | E-Value | Type |
DAGKc
|
62 |
193 |
1.9e-6 |
SMART |
low complexity region
|
257 |
272 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000200715
AA Change: F76S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201342
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202856
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202949
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 88.4%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
AC159637.1 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
C1s1 |
C |
A |
6: 124,517,759 (GRCm39) |
D74Y |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,659,377 (GRCm39) |
S497P |
probably damaging |
Het |
Ctsj |
C |
T |
13: 61,150,357 (GRCm39) |
S214N |
probably damaging |
Het |
Dnali1 |
T |
C |
4: 124,959,340 (GRCm39) |
S18G |
possibly damaging |
Het |
Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
Gm11143 |
T |
G |
6: 69,594,392 (GRCm39) |
V60G |
unknown |
Het |
Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
Inpp5k |
T |
C |
11: 75,524,285 (GRCm39) |
|
probably benign |
Het |
Krtdap |
A |
T |
7: 30,488,975 (GRCm39) |
|
probably benign |
Het |
Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
Loxl4 |
A |
T |
19: 42,596,994 (GRCm39) |
|
probably benign |
Het |
Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
Otud6b |
T |
A |
4: 14,812,532 (GRCm39) |
T272S |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,035,329 (GRCm39) |
Y44H |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,289,169 (GRCm39) |
R884H |
probably damaging |
Het |
Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
Vwa3a |
T |
C |
7: 120,392,566 (GRCm39) |
Y802H |
probably damaging |
Het |
Zc3h4 |
G |
A |
7: 16,150,838 (GRCm39) |
R60Q |
possibly damaging |
Het |
Zfp385a |
A |
T |
15: 103,226,370 (GRCm39) |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTACCACTGGTAAGGAAAGCCAGG -3'
(R):5'- TGAACATCAATTTGCGGCACGG -3'
Sequencing Primer
(F):5'- AAGGAAAGCCAGGTTTTTGTCC -3'
(R):5'- GTGACTTCCACTCGGAGACTAAC -3'
|
Posted On |
2014-03-28 |