Incidental Mutation 'IGL01759:Gpat2'
ID |
153540 |
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 # |
IGL01759
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
127267119-127278012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127272816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 176
(F176S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062211]
|
AlphaFold |
Q14DK4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062211
AA Change: F176S
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049619 Gene: ENSMUSG00000046338 AA Change: F176S
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3 |
A |
T |
11: 95,726,625 (GRCm39) |
D150E |
probably damaging |
Het |
Akr1c14 |
T |
A |
13: 4,131,139 (GRCm39) |
I277N |
probably damaging |
Het |
Ap1b1 |
C |
T |
11: 4,969,433 (GRCm39) |
T263I |
probably damaging |
Het |
Atp6v0d2 |
C |
A |
4: 19,878,335 (GRCm39) |
V313L |
probably damaging |
Het |
Car2 |
G |
A |
3: 14,960,688 (GRCm39) |
|
probably null |
Het |
Cdh17 |
T |
A |
4: 11,771,262 (GRCm39) |
|
probably benign |
Het |
Cep295 |
A |
G |
9: 15,234,855 (GRCm39) |
|
probably null |
Het |
Cep97 |
T |
C |
16: 55,750,936 (GRCm39) |
K27E |
probably damaging |
Het |
Cops5 |
A |
T |
1: 10,097,474 (GRCm39) |
N258K |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,404,509 (GRCm39) |
T2678S |
probably benign |
Het |
Dnah10 |
T |
A |
5: 124,832,850 (GRCm39) |
F861Y |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,503,990 (GRCm39) |
E1777G |
probably damaging |
Het |
Dock5 |
G |
A |
14: 68,118,708 (GRCm39) |
Q23* |
probably null |
Het |
Ermp1 |
T |
C |
19: 29,593,236 (GRCm39) |
K752R |
probably benign |
Het |
Fhip1a |
A |
C |
3: 85,595,754 (GRCm39) |
I377S |
probably damaging |
Het |
Gjd2 |
T |
A |
2: 113,841,587 (GRCm39) |
I297L |
probably benign |
Het |
Gm1123 |
T |
C |
9: 98,905,307 (GRCm39) |
M68V |
probably benign |
Het |
Gm28372 |
C |
T |
2: 130,248,818 (GRCm39) |
R59W |
probably damaging |
Het |
Gm9912 |
A |
C |
3: 148,891,074 (GRCm39) |
F20V |
unknown |
Het |
Gpr150 |
T |
C |
13: 76,203,784 (GRCm39) |
H387R |
possibly damaging |
Het |
Gpr20 |
T |
A |
15: 73,568,269 (GRCm39) |
D40V |
probably damaging |
Het |
Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
Jakmip3 |
A |
T |
7: 138,622,633 (GRCm39) |
Q331L |
probably damaging |
Het |
Kif5b |
A |
G |
18: 6,225,647 (GRCm39) |
V179A |
probably damaging |
Het |
Kif5b |
A |
T |
18: 6,211,019 (GRCm39) |
|
probably benign |
Het |
Krt14 |
A |
T |
11: 100,095,242 (GRCm39) |
|
probably benign |
Het |
L3mbtl3 |
A |
G |
10: 26,207,798 (GRCm39) |
F307S |
unknown |
Het |
Laptm4a |
T |
C |
12: 8,984,687 (GRCm39) |
|
probably benign |
Het |
Marveld3 |
T |
C |
8: 110,674,719 (GRCm39) |
S366G |
possibly damaging |
Het |
Mga |
C |
A |
2: 119,781,676 (GRCm39) |
T2234K |
possibly damaging |
Het |
Mkrn2os |
T |
C |
6: 115,569,292 (GRCm39) |
N54S |
probably benign |
Het |
Mras |
T |
C |
9: 99,293,548 (GRCm39) |
I31V |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,110,732 (GRCm39) |
D1518G |
probably damaging |
Het |
Myoz2 |
A |
T |
3: 122,807,430 (GRCm39) |
Y127N |
possibly damaging |
Het |
Nhlrc1 |
C |
A |
13: 47,167,438 (GRCm39) |
W273L |
probably benign |
Het |
Nol9 |
C |
T |
4: 152,130,500 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
T |
C |
19: 6,559,959 (GRCm39) |
V1206A |
probably damaging |
Het |
Or2ag1b |
T |
C |
7: 106,288,540 (GRCm39) |
T133A |
probably benign |
Het |
Or5k16 |
A |
T |
16: 58,736,291 (GRCm39) |
F238I |
probably damaging |
Het |
Or6c5 |
T |
A |
10: 129,074,941 (GRCm39) |
F308I |
probably benign |
Het |
Or6f2 |
T |
C |
7: 139,756,447 (GRCm39) |
I138T |
probably benign |
Het |
Or8g2b |
T |
A |
9: 39,750,907 (GRCm39) |
M59K |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,123,395 (GRCm39) |
|
probably null |
Het |
Pfkl |
A |
G |
10: 77,836,565 (GRCm39) |
S151P |
probably damaging |
Het |
Pgbd5 |
C |
T |
8: 125,111,118 (GRCm39) |
G191D |
probably damaging |
Het |
Pikfyve |
T |
C |
1: 65,292,512 (GRCm39) |
V1276A |
probably benign |
Het |
Pla2g4c |
T |
A |
7: 13,082,241 (GRCm39) |
Y486N |
probably damaging |
Het |
Rasal2 |
C |
A |
1: 157,003,502 (GRCm39) |
V386L |
probably benign |
Het |
S1pr3 |
G |
A |
13: 51,573,548 (GRCm39) |
R243Q |
probably damaging |
Het |
Slc44a4 |
A |
G |
17: 35,140,219 (GRCm39) |
D208G |
probably benign |
Het |
Slc6a4 |
T |
C |
11: 76,904,114 (GRCm39) |
S190P |
probably damaging |
Het |
Snapc5 |
A |
T |
9: 64,087,779 (GRCm39) |
|
probably null |
Het |
Tbc1d14 |
C |
A |
5: 36,728,913 (GRCm39) |
R151L |
probably damaging |
Het |
Tecpr2 |
T |
A |
12: 110,897,826 (GRCm39) |
|
probably benign |
Het |
Tmem219 |
G |
A |
7: 126,496,310 (GRCm39) |
P44L |
probably damaging |
Het |
Ube2e1 |
T |
C |
14: 18,330,951 (GRCm38) |
R51G |
probably null |
Het |
Ugp2 |
T |
C |
11: 21,303,447 (GRCm39) |
K53E |
probably benign |
Het |
Vmn1r214 |
T |
C |
13: 23,218,662 (GRCm39) |
I52T |
probably benign |
Het |
Vmn2r124 |
C |
T |
17: 18,284,330 (GRCm39) |
T457I |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,878,935 (GRCm39) |
E2978G |
probably damaging |
Het |
Zfr |
A |
G |
15: 12,159,741 (GRCm39) |
D679G |
probably damaging |
Het |
Zhx3 |
T |
C |
2: 160,622,634 (GRCm39) |
N511S |
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 |
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 |
IGL02873:Gpat2
|
APN |
2 |
127,273,675 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2014-02-04 |