Incidental Mutation 'R1429:Gpat3'
| ID |
161435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpat3
|
| Ensembl Gene |
ENSMUSG00000029314 |
| Gene Name |
glycerol-3-phosphate acyltransferase 3 |
| Synonyms |
4933407I02Rik, Agpat9, A230097K15Rik |
| MMRRC Submission |
039485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R1429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
100994095-101046968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101040953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 338
(G338S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031255]
[ENSMUST00000092990]
[ENSMUST00000112887]
|
| AlphaFold |
Q8C0N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031255
AA Change: G338S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031255
Gene: ENSMUSG00000029314
AA Change: G338S
| 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 damaging
Transcript: ENSMUST00000092990
AA Change: G338S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090667
Gene: ENSMUSG00000029314
AA Change: G338S
| 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 damaging
Transcript: ENSMUST00000112887
AA Change: G338S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108508
Gene: ENSMUSG00000029314
AA Change: G338S
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Alg8 |
C |
T |
7: 97,039,499 (GRCm39) |
A410V |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,849,420 (GRCm39) |
Y481C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,418,260 (GRCm39) |
V56A |
possibly damaging |
Het |
| Cactin |
T |
C |
10: 81,159,512 (GRCm39) |
I23T |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,656,900 (GRCm39) |
I3051V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,238,364 (GRCm39) |
I66N |
probably damaging |
Het |
| Ddx50 |
G |
A |
10: 62,482,847 (GRCm39) |
T74I |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,328,816 (GRCm39) |
D3183Y |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,523,252 (GRCm39) |
D93G |
probably damaging |
Het |
| Ess2 |
G |
A |
16: 17,720,069 (GRCm39) |
R427* |
probably null |
Het |
| Fam135a |
T |
G |
1: 24,083,348 (GRCm39) |
K292N |
probably damaging |
Het |
| Fam83b |
G |
T |
9: 76,399,859 (GRCm39) |
R415S |
probably benign |
Het |
| Fxyd3 |
T |
A |
7: 30,773,046 (GRCm39) |
M1L |
probably benign |
Het |
| Gm5134 |
T |
A |
10: 75,814,215 (GRCm39) |
M193K |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,925 (GRCm39) |
E427G |
possibly damaging |
Het |
| Hmgxb3 |
C |
T |
18: 61,283,505 (GRCm39) |
R606Q |
probably damaging |
Het |
| Itgb1 |
T |
C |
8: 129,444,157 (GRCm39) |
|
probably null |
Het |
| Myh1 |
C |
A |
11: 67,108,736 (GRCm39) |
T1384K |
possibly damaging |
Het |
| Myo3b |
A |
C |
2: 70,083,351 (GRCm39) |
Q640P |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,596,967 (GRCm39) |
V305A |
probably benign |
Het |
| Or5h17 |
G |
A |
16: 58,820,501 (GRCm39) |
G151D |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,534,020 (GRCm39) |
D631G |
probably benign |
Het |
| Phc2 |
C |
A |
4: 128,637,348 (GRCm39) |
P51Q |
probably damaging |
Het |
| Pmel |
G |
A |
10: 128,554,861 (GRCm39) |
|
probably null |
Het |
| Rassf8 |
G |
T |
6: 145,760,916 (GRCm39) |
G81W |
probably damaging |
Het |
| Rfx2 |
G |
T |
17: 57,111,369 (GRCm39) |
Q68K |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsbn1l |
A |
G |
5: 21,125,016 (GRCm39) |
L262S |
probably damaging |
Het |
| S100a16 |
A |
C |
3: 90,449,391 (GRCm39) |
Y22S |
probably damaging |
Het |
| Stx19 |
G |
A |
16: 62,642,960 (GRCm39) |
V259I |
possibly damaging |
Het |
| Tas2r105 |
T |
C |
6: 131,663,904 (GRCm39) |
I175V |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,802,031 (GRCm39) |
H90L |
possibly damaging |
Het |
| Wscd1 |
T |
A |
11: 71,651,000 (GRCm39) |
L109Q |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,413,070 (GRCm39) |
Q1154L |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,672 (GRCm39) |
L1059P |
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 |
|
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 |
|
R8064:Gpat3
|
UTSW |
5 |
101,039,522 (GRCm39) |
missense |
probably benign |
0.36 |
|
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'- TGGACCGACAGACAGCATGACTAC -3'
(R):5'- TGCAAACTGAACTGCGTCTTCTCC -3'
Sequencing Primer
(F):5'- acagacagCATGACTACATGGAG -3'
(R):5'- TGGAGATACCCAAAGTTCTAGAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation