Incidental Mutation 'R8395:Gpat4'
| ID |
647570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpat4
|
| Ensembl Gene |
ENSMUSG00000031545 |
| Gene Name |
glycerol-3-phosphate acyltransferase 4 |
| Synonyms |
Agpat6 |
| MMRRC Submission |
067759-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.420)
|
| Stock # |
R8395 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
23661281-23698362 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GTGTT to GT
at 23669498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167004]
[ENSMUST00000209507]
|
| AlphaFold |
Q8K2C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167004
|
| SMART Domains |
Protein: ENSMUSP00000127325
Gene: ENSMUSG00000031545
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,218,280 (GRCm39) |
E352G |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,400 (GRCm39) |
F532L |
possibly damaging |
Het |
| Bckdk |
G |
A |
7: 127,507,139 (GRCm39) |
V328I |
probably benign |
Het |
| Cenpu |
T |
C |
8: 47,007,084 (GRCm39) |
Y26H |
probably benign |
Het |
| Clk3 |
A |
T |
9: 57,672,445 (GRCm39) |
V119E |
probably benign |
Het |
| Cnn2 |
A |
G |
10: 79,828,293 (GRCm39) |
N90S |
probably benign |
Het |
| Dlk2 |
T |
C |
17: 46,611,969 (GRCm39) |
I78T |
probably damaging |
Het |
| Ercc8 |
G |
T |
13: 108,323,788 (GRCm39) |
E367* |
probably null |
Het |
| Gbp9 |
A |
T |
5: 105,228,069 (GRCm39) |
I571K |
probably damaging |
Het |
| Gm3404 |
T |
C |
5: 146,462,724 (GRCm39) |
I29T |
possibly damaging |
Het |
| Heatr5a |
A |
G |
12: 51,962,961 (GRCm39) |
S74P |
|
Het |
| Htr6 |
T |
G |
4: 138,789,078 (GRCm39) |
M326L |
possibly damaging |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Ippk |
A |
G |
13: 49,615,096 (GRCm39) |
E493G |
probably damaging |
Het |
| Kiz |
A |
G |
2: 146,794,949 (GRCm39) |
N603S |
possibly damaging |
Het |
| Limch1 |
A |
T |
5: 67,126,394 (GRCm39) |
K7N |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,547,411 (GRCm39) |
C4257Y |
|
Het |
| Map4k5 |
C |
G |
12: 69,877,203 (GRCm39) |
R381T |
probably null |
Het |
| Map9 |
A |
G |
3: 82,289,276 (GRCm39) |
I455V |
probably benign |
Het |
| Mpped1 |
T |
C |
15: 83,684,257 (GRCm39) |
V93A |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,682,842 (GRCm39) |
L1129P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,065,645 (GRCm39) |
M6196L |
probably benign |
Het |
| Neb |
C |
A |
2: 52,147,806 (GRCm39) |
V2738F |
probably damaging |
Het |
| Or10ad1 |
A |
G |
15: 98,105,500 (GRCm39) |
V255A |
probably benign |
Het |
| Or8k18 |
G |
A |
2: 86,085,878 (GRCm39) |
S53F |
possibly damaging |
Het |
| Sgf29 |
T |
A |
7: 126,271,837 (GRCm39) |
C287* |
probably null |
Het |
| Siglece |
A |
G |
7: 43,305,523 (GRCm39) |
V398A |
probably benign |
Het |
| Slc43a1 |
T |
C |
2: 84,671,266 (GRCm39) |
L67P |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,954,239 (GRCm39) |
H470R |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,889,540 (GRCm39) |
V760A |
probably benign |
Het |
| Syngr1 |
T |
C |
15: 79,997,445 (GRCm39) |
S188P |
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,958,634 (GRCm39) |
D885G |
probably benign |
Het |
| Ubd |
A |
T |
17: 37,506,249 (GRCm39) |
Q45L |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 79,976,080 (GRCm39) |
C800S |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,587 (GRCm39) |
T683A |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,799,982 (GRCm39) |
T787S |
possibly damaging |
Het |
| Vmn2r85 |
G |
A |
10: 130,261,797 (GRCm39) |
P180L |
probably damaging |
Het |
| Vtcn1 |
T |
C |
3: 100,791,070 (GRCm39) |
F36S |
probably benign |
Het |
| Wdr86 |
A |
G |
5: 24,935,187 (GRCm39) |
L52P |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,885,924 (GRCm39) |
S43T |
probably benign |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
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 |
|
R5491:Gpat4
|
UTSW |
8 |
23,670,680 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8393: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'- TGGCAGCTGCTCTTCTGATC -3'
(R):5'- CAAGGGATGAGTAACTGCATGC -3'
Sequencing Primer
(F):5'- CACTGCTCTGCCACATGG -3'
(R):5'- AGTAACTGCATGCTGTGGACCTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation