Incidental Mutation 'R5491:Gpat4'
| ID |
432084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpat4
|
| Ensembl Gene |
ENSMUSG00000031545 |
| Gene Name |
glycerol-3-phosphate acyltransferase 4 |
| Synonyms |
Agpat6 |
| MMRRC Submission |
043052-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.312)
|
| Stock # |
R5491 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
23661281-23698362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23670680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 133
(I133T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167004]
[ENSMUST00000209507]
|
| AlphaFold |
Q8K2C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167004
AA Change: I255T
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127325
Gene: ENSMUSG00000031545
AA Change: I255T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
156 |
175 |
N/A |
INTRINSIC |
|
transmembrane domain
|
180 |
202 |
N/A |
INTRINSIC |
|
PlsC
|
242 |
353 |
9.31e-24 |
SMART |
|
Blast:PlsC
|
368 |
413 |
7e-18 |
BLAST |
|
low complexity region
|
414 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209507
AA Change: I133T
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211260
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 89.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004]
PHENOTYPE: Nursing mothers homozygous for a gene trap allele display underdeveloped mammary glands that are depleted in intracellular fat droplets and lack the ability to produce diacylglycerol- and triacylglycerol-rich milk; pups nursed by mutant mothers die neonatally unless transferred to foster mothers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,462 (GRCm39) |
A182S |
possibly damaging |
Het |
| Aldh1l2 |
A |
T |
10: 83,358,649 (GRCm39) |
D2E |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,562,681 (GRCm39) |
D383Y |
probably damaging |
Het |
| Cd248 |
T |
C |
19: 5,120,237 (GRCm39) |
L695P |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,580,861 (GRCm39) |
N132Y |
probably damaging |
Het |
| Cisd2 |
A |
T |
3: 135,114,601 (GRCm39) |
D123E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,615,435 (GRCm39) |
D1571V |
probably damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fbxo48 |
C |
T |
11: 16,904,280 (GRCm39) |
T144M |
probably damaging |
Het |
| Fbxo7 |
C |
A |
10: 85,883,890 (GRCm39) |
P497Q |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,925 (GRCm39) |
I596V |
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,657,905 (GRCm39) |
H88L |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,485,576 (GRCm39) |
|
probably null |
Het |
| Ncaph |
T |
C |
2: 126,965,595 (GRCm39) |
T252A |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,439,783 (GRCm39) |
Y163* |
probably null |
Het |
| Neurod4 |
C |
T |
10: 130,106,936 (GRCm39) |
V113I |
possibly damaging |
Het |
| Or13j1 |
A |
G |
4: 43,705,990 (GRCm39) |
S193P |
probably damaging |
Het |
| Or3a1d |
A |
T |
11: 74,237,740 (GRCm39) |
H103Q |
probably benign |
Het |
| Or4f56 |
T |
A |
2: 111,703,907 (GRCm39) |
I98F |
probably benign |
Het |
| Pbxip1 |
T |
A |
3: 89,350,466 (GRCm39) |
M37K |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,137,590 (GRCm39) |
N184S |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,487,634 (GRCm39) |
P480L |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,246 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rassf1 |
T |
A |
9: 107,438,614 (GRCm39) |
M228K |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,139,303 (GRCm39) |
D231G |
probably damaging |
Het |
| She |
A |
T |
3: 89,739,097 (GRCm39) |
D96V |
probably damaging |
Het |
| Shisal1 |
C |
A |
15: 84,290,711 (GRCm39) |
V199L |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,749,627 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,562,702 (GRCm39) |
I28751F |
probably damaging |
Het |
| Zfp60 |
T |
G |
7: 27,447,940 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gpat4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Gpat4
|
APN |
8 |
23,672,791 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01660:Gpat4
|
APN |
8 |
23,665,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01688:Gpat4
|
APN |
8 |
23,671,861 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02749:Gpat4
|
APN |
8 |
23,670,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Gpat4
|
UTSW |
8 |
23,680,721 (GRCm39) |
splice site |
probably benign |
|
|
R0362:Gpat4
|
UTSW |
8 |
23,670,949 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0961:Gpat4
|
UTSW |
8 |
23,670,927 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1876:Gpat4
|
UTSW |
8 |
23,669,486 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1959:Gpat4
|
UTSW |
8 |
23,672,952 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2217:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2313:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2315:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2969:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3110:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3112:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3774:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3775:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3826:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3828:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3829:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3830:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3943:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3944:Gpat4
|
UTSW |
8 |
23,670,171 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4384:Gpat4
|
UTSW |
8 |
23,664,602 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4685:Gpat4
|
UTSW |
8 |
23,672,865 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5120:Gpat4
|
UTSW |
8 |
23,670,218 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5199:Gpat4
|
UTSW |
8 |
23,672,712 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8393:Gpat4
|
UTSW |
8 |
23,669,498 (GRCm39) |
unclassified |
probably benign |
|
|
R8395:Gpat4
|
UTSW |
8 |
23,669,498 (GRCm39) |
unclassified |
probably benign |
|
|
R8396:Gpat4
|
UTSW |
8 |
23,669,498 (GRCm39) |
unclassified |
probably benign |
|
|
X0062:Gpat4
|
UTSW |
8 |
23,680,727 (GRCm39) |
splice site |
probably null |
|
|
X0064:Gpat4
|
UTSW |
8 |
23,665,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gpat4
|
UTSW |
8 |
23,669,814 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAATAGACCTCTCCCTTCAGG -3'
(R):5'- GAGACTCGGTCACATTTGGC -3'
Sequencing Primer
(F):5'- TTCCTCATCAGCAGTCTAAGGACG -3'
(R):5'- CACATTTGGCTGCTGATGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation