Incidental Mutation 'IGL02873:Gpat2'
| ID |
362612 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpat2
|
| Ensembl Gene |
ENSMUSG00000046338 |
| Gene Name |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
| Synonyms |
A530057A03Rik, Gpat2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02873
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
127267119-127278012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127273675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 271
(V271A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028848]
[ENSMUST00000062211]
|
| AlphaFold |
Q14DK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028848
|
| SMART Domains |
Protein: ENSMUSP00000028848
Gene: ENSMUSG00000027371
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
53 |
N/A |
INTRINSIC |
|
Pfam:FAA_hydrolase
|
107 |
313 |
3.1e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062211
AA Change: V271A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338
AA Change: V271A
| Domain | Start | End | E-Value | Type |
|---|
|
PlsC
|
199 |
333 |
1.45e-11 |
SMART |
|
Blast:PlsC
|
347 |
387 |
7e-13 |
BLAST |
|
low complexity region
|
431 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
675 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146757
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
T |
7: 50,249,431 (GRCm39) |
H155L |
probably damaging |
Het |
| 5830462I19Rik |
G |
A |
9: 110,203,446 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
T |
A |
5: 3,822,619 (GRCm39) |
Q29L |
probably damaging |
Het |
| Arid5b |
A |
T |
10: 67,937,780 (GRCm39) |
M449K |
probably benign |
Het |
| Atp1a1 |
A |
G |
3: 101,483,894 (GRCm39) |
V1017A |
probably benign |
Het |
| Cfap52 |
G |
T |
11: 67,822,608 (GRCm39) |
T421K |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,459,970 (GRCm39) |
I780N |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,299,181 (GRCm39) |
D3164G |
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,844,142 (GRCm39) |
Q82L |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,830,700 (GRCm39) |
D265V |
probably benign |
Het |
| Gm14393 |
T |
C |
2: 174,903,595 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ifna4 |
T |
C |
4: 88,760,423 (GRCm39) |
F109S |
probably damaging |
Het |
| Il27ra |
T |
C |
8: 84,758,164 (GRCm39) |
S529G |
probably benign |
Het |
| Jag2 |
A |
G |
12: 112,874,122 (GRCm39) |
L1011P |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,356,507 (GRCm39) |
L728P |
probably damaging |
Het |
| Klhl21 |
T |
C |
4: 152,099,817 (GRCm39) |
V509A |
probably benign |
Het |
| Map2k4 |
T |
A |
11: 65,610,400 (GRCm39) |
N92I |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,374,308 (GRCm39) |
D1288V |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,217 (GRCm39) |
V151A |
probably benign |
Het |
| Or5g25 |
C |
A |
2: 85,478,096 (GRCm39) |
A190S |
possibly damaging |
Het |
| Paip1 |
T |
A |
13: 119,582,348 (GRCm39) |
F275L |
possibly damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,936,937 (GRCm39) |
D1624G |
probably damaging |
Het |
| Ppwd1 |
C |
A |
13: 104,346,261 (GRCm39) |
D465Y |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,228,538 (GRCm39) |
L528P |
probably damaging |
Het |
| Rftn1 |
A |
C |
17: 50,476,180 (GRCm39) |
|
probably benign |
Het |
| Scn1b |
T |
A |
7: 30,817,182 (GRCm39) |
Y180F |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,111 (GRCm39) |
D207G |
probably benign |
Het |
| Slc2a3 |
T |
C |
6: 122,717,373 (GRCm39) |
T28A |
probably damaging |
Het |
| Slc47a1 |
G |
A |
11: 61,253,643 (GRCm39) |
|
probably benign |
Het |
| Spata1 |
A |
T |
3: 146,193,122 (GRCm39) |
V123D |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,544,288 (GRCm39) |
V4469A |
probably damaging |
Het |
| Trmu |
T |
A |
15: 85,781,033 (GRCm39) |
|
probably null |
Het |
| Trrap |
T |
A |
5: 144,777,889 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,726,475 (GRCm39) |
|
probably benign |
Het |
| Tubgcp6 |
T |
C |
15: 88,988,027 (GRCm39) |
D974G |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,364,171 (GRCm39) |
R621C |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,513,058 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,848 (GRCm39) |
K305E |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,199,765 (GRCm39) |
T118M |
probably damaging |
Het |
|
| Other mutations in Gpat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Gpat2
|
APN |
2 |
127,274,316 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00479:Gpat2
|
APN |
2 |
127,276,381 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01393:Gpat2
|
APN |
2 |
127,274,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Gpat2
|
APN |
2 |
127,272,816 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01764:Gpat2
|
APN |
2 |
127,269,456 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02631:Gpat2
|
APN |
2 |
127,276,152 (GRCm39) |
splice site |
probably benign |
|
|
IGL02657:Gpat2
|
APN |
2 |
127,269,251 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02813:Gpat2
|
APN |
2 |
127,276,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02993:Gpat2
|
APN |
2 |
127,269,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hygroscopic
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT4494001:Gpat2
|
UTSW |
2 |
127,275,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0078:Gpat2
|
UTSW |
2 |
127,270,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Gpat2
|
UTSW |
2 |
127,277,765 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1619:Gpat2
|
UTSW |
2 |
127,270,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1851:Gpat2
|
UTSW |
2 |
127,276,739 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1939:Gpat2
|
UTSW |
2 |
127,277,879 (GRCm39) |
makesense |
probably null |
|
|
R2143:Gpat2
|
UTSW |
2 |
127,275,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Gpat2
|
UTSW |
2 |
127,270,211 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2518:Gpat2
|
UTSW |
2 |
127,270,211 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3410:Gpat2
|
UTSW |
2 |
127,270,211 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3411:Gpat2
|
UTSW |
2 |
127,270,211 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3898:Gpat2
|
UTSW |
2 |
127,277,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Gpat2
|
UTSW |
2 |
127,275,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4725:Gpat2
|
UTSW |
2 |
127,273,902 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4841:Gpat2
|
UTSW |
2 |
127,275,887 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5354:Gpat2
|
UTSW |
2 |
127,270,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Gpat2
|
UTSW |
2 |
127,270,195 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6362:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6374:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6375:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6377:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6380:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6381:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6382:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6383:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6384:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6393:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6565:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6594:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6595:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6649:Gpat2
|
UTSW |
2 |
127,274,355 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6665:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6666:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6667:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6668:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6669:Gpat2
|
UTSW |
2 |
127,273,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7031:Gpat2
|
UTSW |
2 |
127,277,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7096:Gpat2
|
UTSW |
2 |
127,270,209 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7307:Gpat2
|
UTSW |
2 |
127,276,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Gpat2
|
UTSW |
2 |
127,270,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7365:Gpat2
|
UTSW |
2 |
127,268,901 (GRCm39) |
splice site |
probably null |
|
|
R8111:Gpat2
|
UTSW |
2 |
127,275,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8113:Gpat2
|
UTSW |
2 |
127,273,267 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8729:Gpat2
|
UTSW |
2 |
127,275,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9010:Gpat2
|
UTSW |
2 |
127,277,146 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9146:Gpat2
|
UTSW |
2 |
127,273,206 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1176:Gpat2
|
UTSW |
2 |
127,275,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gpat2
|
UTSW |
2 |
127,272,802 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation