Incidental Mutation 'R8064:Gpat3'
ID |
619894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpat3
|
Ensembl Gene |
ENSMUSG00000029314 |
Gene Name |
glycerol-3-phosphate acyltransferase 3 |
Synonyms |
4933407I02Rik, Agpat9, A230097K15Rik |
MMRRC Submission |
067500-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
R8064 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
100994095-101046968 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101039522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 290
(I290F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031255]
[ENSMUST00000092990]
[ENSMUST00000112887]
|
AlphaFold |
Q8C0N2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031255
AA Change: I290F
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000031255 Gene: ENSMUSG00000029314 AA Change: I290F
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Blast:PlsC
|
99 |
160 |
7e-6 |
BLAST |
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
PlsC
|
223 |
334 |
5.96e-22 |
SMART |
Blast:PlsC
|
348 |
396 |
2e-22 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092990
AA Change: I290F
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000090667 Gene: ENSMUSG00000029314 AA Change: I290F
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Blast:PlsC
|
99 |
160 |
7e-6 |
BLAST |
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
PlsC
|
223 |
334 |
5.96e-22 |
SMART |
Blast:PlsC
|
348 |
396 |
2e-22 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112887
AA Change: I290F
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108508 Gene: ENSMUSG00000029314 AA Change: I290F
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Blast:PlsC
|
99 |
160 |
7e-6 |
BLAST |
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
PlsC
|
223 |
334 |
5.96e-22 |
SMART |
Blast:PlsC
|
348 |
396 |
2e-22 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] PHENOTYPE: Under high-fat feeding, mice homozygous for a knock-out allele exhibit increased energy expenditure, improved glucose homeostasis, enlarged livers, increased total serum cholesterol levels, altered liver cholesterol metabolism, and female-specific protection from diet-induced obesity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
A |
T |
8: 25,171,566 (GRCm39) |
V755D |
probably benign |
Het |
Adgrb3 |
A |
T |
1: 25,459,637 (GRCm39) |
|
probably null |
Het |
Anapc2 |
T |
C |
2: 25,166,418 (GRCm39) |
V395A |
probably benign |
Het |
Apol11b |
A |
G |
15: 77,519,417 (GRCm39) |
V221A |
not run |
Het |
Arhgef28 |
T |
A |
13: 98,115,002 (GRCm39) |
Y616F |
probably benign |
Het |
Brdt |
C |
A |
5: 107,525,862 (GRCm39) |
S905* |
probably null |
Het |
Ccdc54 |
T |
A |
16: 50,410,327 (GRCm39) |
H313L |
probably benign |
Het |
Chuk |
A |
G |
19: 44,071,115 (GRCm39) |
L530P |
probably damaging |
Het |
Csl |
A |
T |
10: 99,594,407 (GRCm39) |
N219K |
probably damaging |
Het |
Cyp2j5 |
A |
G |
4: 96,546,948 (GRCm39) |
S189P |
probably damaging |
Het |
Cyp4a14 |
A |
T |
4: 115,352,155 (GRCm39) |
C86S |
probably benign |
Het |
Dgkg |
TCTCCT |
TCT |
16: 22,399,344 (GRCm39) |
|
probably null |
Het |
F11 |
C |
T |
8: 45,698,810 (GRCm39) |
G445S |
probably benign |
Het |
Fer |
T |
A |
17: 64,214,418 (GRCm39) |
I117N |
probably benign |
Het |
H2-M10.2 |
C |
T |
17: 36,595,442 (GRCm39) |
V283M |
probably damaging |
Het |
Hpse |
G |
A |
5: 100,836,766 (GRCm39) |
P408S |
probably benign |
Het |
Hyou1 |
T |
A |
9: 44,296,882 (GRCm39) |
N515K |
possibly damaging |
Het |
Idh1 |
A |
G |
1: 65,205,338 (GRCm39) |
L209P |
probably damaging |
Het |
Igkv16-104 |
A |
T |
6: 68,402,875 (GRCm39) |
Y56F |
possibly damaging |
Het |
Ins2 |
A |
G |
7: 142,232,553 (GRCm39) |
L77P |
probably benign |
Het |
Kcnn2 |
A |
T |
18: 45,692,426 (GRCm39) |
M1L |
probably benign |
Het |
Kdm3b |
A |
T |
18: 34,946,460 (GRCm39) |
|
probably null |
Het |
Lysmd4 |
T |
C |
7: 66,873,398 (GRCm39) |
F11S |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,353,167 (GRCm39) |
D3625V |
possibly damaging |
Het |
Mlkl |
T |
A |
8: 112,038,700 (GRCm39) |
E459V |
probably benign |
Het |
Nsd3 |
A |
T |
8: 26,190,698 (GRCm39) |
K210* |
probably null |
Het |
Or10ag57 |
C |
T |
2: 87,218,853 (GRCm39) |
T268I |
probably benign |
Het |
Or10q1b |
T |
C |
19: 13,682,386 (GRCm39) |
F65S |
probably damaging |
Het |
Or52n4 |
T |
A |
7: 104,294,561 (GRCm39) |
Q6L |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,692,225 (GRCm39) |
N153S |
probably damaging |
Het |
Rac3 |
T |
A |
11: 120,614,401 (GRCm39) |
V182E |
probably benign |
Het |
Ripk3 |
T |
G |
14: 56,025,383 (GRCm39) |
E60D |
possibly damaging |
Het |
Sacs |
T |
A |
14: 61,429,624 (GRCm39) |
I561N |
possibly damaging |
Het |
Smad7 |
A |
G |
18: 75,527,153 (GRCm39) |
Y333C |
probably damaging |
Het |
Snhg11 |
T |
G |
2: 158,218,121 (GRCm39) |
M1R |
probably null |
Het |
Sp100 |
C |
T |
1: 85,608,860 (GRCm39) |
R330* |
probably null |
Het |
Spen |
T |
C |
4: 141,203,011 (GRCm39) |
K1872R |
possibly damaging |
Het |
Spon1 |
T |
A |
7: 113,635,856 (GRCm39) |
I690N |
probably damaging |
Het |
Taok1 |
G |
A |
11: 77,440,130 (GRCm39) |
R626* |
probably null |
Het |
Tecta |
C |
T |
9: 42,306,251 (GRCm39) |
G59D |
possibly damaging |
Het |
Tmem8b |
T |
C |
4: 43,690,139 (GRCm39) |
F399S |
probably damaging |
Het |
Trank1 |
C |
T |
9: 111,181,144 (GRCm39) |
Q389* |
probably null |
Het |
Vmn1r33 |
G |
T |
6: 66,588,911 (GRCm39) |
S214R |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,800,581 (GRCm39) |
L587* |
probably null |
Het |
Vps35l |
T |
C |
7: 118,353,147 (GRCm39) |
I238T |
probably damaging |
Het |
Zfp335 |
G |
A |
2: 164,749,620 (GRCm39) |
T259I |
probably damaging |
Het |
|
Other mutations in Gpat3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00848:Gpat3
|
APN |
5 |
101,041,010 (GRCm39) |
missense |
probably benign |
0.01 |
R1429:Gpat3
|
UTSW |
5 |
101,040,953 (GRCm39) |
missense |
probably damaging |
0.99 |
R1539:Gpat3
|
UTSW |
5 |
101,031,254 (GRCm39) |
missense |
probably benign |
0.00 |
R1830:Gpat3
|
UTSW |
5 |
101,041,046 (GRCm39) |
missense |
probably benign |
|
R2030:Gpat3
|
UTSW |
5 |
101,045,687 (GRCm39) |
missense |
probably benign |
|
R2440:Gpat3
|
UTSW |
5 |
101,005,039 (GRCm39) |
missense |
probably benign |
|
R2444:Gpat3
|
UTSW |
5 |
101,005,039 (GRCm39) |
missense |
probably benign |
|
R3039:Gpat3
|
UTSW |
5 |
101,045,671 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3813:Gpat3
|
UTSW |
5 |
101,039,505 (GRCm39) |
splice site |
probably benign |
|
R3830:Gpat3
|
UTSW |
5 |
101,032,252 (GRCm39) |
missense |
probably benign |
0.02 |
R4636:Gpat3
|
UTSW |
5 |
101,005,039 (GRCm39) |
missense |
probably benign |
|
R4637:Gpat3
|
UTSW |
5 |
101,005,039 (GRCm39) |
missense |
probably benign |
|
R4679:Gpat3
|
UTSW |
5 |
101,041,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R4792:Gpat3
|
UTSW |
5 |
101,005,039 (GRCm39) |
missense |
probably benign |
|
R5229:Gpat3
|
UTSW |
5 |
101,031,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R5661:Gpat3
|
UTSW |
5 |
101,033,808 (GRCm39) |
nonsense |
probably null |
|
R6383:Gpat3
|
UTSW |
5 |
101,041,010 (GRCm39) |
missense |
probably benign |
0.01 |
R8234:Gpat3
|
UTSW |
5 |
101,005,076 (GRCm39) |
critical splice donor site |
probably null |
|
R9047:Gpat3
|
UTSW |
5 |
100,994,788 (GRCm39) |
missense |
probably benign |
0.00 |
R9180:Gpat3
|
UTSW |
5 |
101,032,230 (GRCm39) |
missense |
probably benign |
0.00 |
X0023:Gpat3
|
UTSW |
5 |
101,033,826 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACCACTTCACTCAGAATTAGAG -3'
(R):5'- TCTCACAGCTAAATAGTCATAGCC -3'
Sequencing Primer
(F):5'- GAAAATGGGAGTGTGCCAATTTCC -3'
(R):5'- GCCAATGCTGTTTAATACCTTTATGG -3'
|
Posted On |
2020-01-23 |