Incidental Mutation 'R4384:Gpat4'
| ID |
326116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpat4
|
| Ensembl Gene |
ENSMUSG00000031545 |
| Gene Name |
glycerol-3-phosphate acyltransferase 4 |
| Synonyms |
Agpat6 |
| MMRRC Submission |
042002-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.420)
|
| Stock # |
R4384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
23661281-23698362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23664602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 446
(I446T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167004]
|
| AlphaFold |
Q8K2C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167004
AA Change: I446T
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127325
Gene: ENSMUSG00000031545
AA Change: I446T
| 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 |
noncoding transcript
Transcript: ENSMUST00000210782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210992
|
| Meta Mutation Damage Score |
0.1041 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
97% (56/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
T |
A |
4: 86,792,805 (GRCm39) |
V27E |
possibly damaging |
Het |
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 14,980,157 (GRCm39) |
C132* |
probably null |
Het |
| Boc |
A |
T |
16: 44,311,545 (GRCm39) |
L726H |
probably damaging |
Het |
| Brip1 |
A |
T |
11: 86,039,255 (GRCm39) |
D426E |
possibly damaging |
Het |
| Cadps2 |
T |
A |
6: 23,412,987 (GRCm39) |
Q654L |
probably benign |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,896,274 (GRCm39) |
Y1067H |
probably damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
| Ddias |
G |
A |
7: 92,507,431 (GRCm39) |
T828I |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,729,687 (GRCm39) |
Y763C |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,510,416 (GRCm39) |
I948F |
probably damaging |
Het |
| E030018B13Rik |
A |
G |
7: 63,569,141 (GRCm39) |
|
probably benign |
Het |
| E2f8 |
G |
A |
7: 48,516,847 (GRCm39) |
T844I |
possibly damaging |
Het |
| Eps8 |
T |
A |
6: 137,476,590 (GRCm39) |
H603L |
probably benign |
Het |
| Esrrg |
G |
A |
1: 187,775,908 (GRCm39) |
C122Y |
probably damaging |
Het |
| Frmd4a |
C |
T |
2: 4,599,374 (GRCm39) |
R467* |
probably null |
Het |
| Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
| Klhl12 |
T |
G |
1: 134,415,392 (GRCm39) |
D435E |
probably damaging |
Het |
| Luc7l |
T |
C |
17: 26,498,936 (GRCm39) |
|
probably benign |
Het |
| Marchf2 |
C |
A |
17: 33,915,167 (GRCm39) |
M142I |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Mdm2 |
T |
C |
10: 117,532,344 (GRCm39) |
D114G |
possibly damaging |
Het |
| Med1 |
G |
A |
11: 98,043,688 (GRCm39) |
|
probably benign |
Het |
| Meikin |
C |
T |
11: 54,308,613 (GRCm39) |
Q404* |
probably null |
Het |
| Myh9 |
A |
T |
15: 77,675,912 (GRCm39) |
|
probably benign |
Het |
| Mylip |
T |
C |
13: 45,543,434 (GRCm39) |
M1T |
probably null |
Het |
| Ncapg2 |
T |
C |
12: 116,403,497 (GRCm39) |
|
probably null |
Het |
| Nmd3 |
T |
C |
3: 69,631,731 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,963,914 (GRCm39) |
L1166H |
probably damaging |
Het |
| Or1j13 |
A |
G |
2: 36,370,010 (GRCm39) |
L44P |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,493,349 (GRCm39) |
Y259H |
probably damaging |
Het |
| Rubcn |
A |
G |
16: 32,677,272 (GRCm39) |
I71T |
probably damaging |
Het |
| Rwdd3 |
T |
C |
3: 120,952,406 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,620,119 (GRCm39) |
E3826G |
probably damaging |
Het |
| Sdad1 |
T |
C |
5: 92,446,116 (GRCm39) |
Q273R |
probably benign |
Het |
| Sdha |
A |
T |
13: 74,475,104 (GRCm39) |
I579K |
possibly damaging |
Het |
| Sema4d |
A |
G |
13: 51,856,919 (GRCm39) |
L771P |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,224,688 (GRCm39) |
E624G |
possibly damaging |
Het |
| Tada3 |
G |
T |
6: 113,347,340 (GRCm39) |
R117S |
probably damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,236,372 (GRCm39) |
M130V |
probably damaging |
Het |
| Trpc1 |
C |
A |
9: 95,614,161 (GRCm39) |
M34I |
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,482,427 (GRCm39) |
V521A |
possibly damaging |
Het |
| Trpm2 |
A |
G |
10: 77,753,559 (GRCm39) |
V1315A |
probably benign |
Het |
| Tvp23a |
A |
G |
16: 10,246,546 (GRCm39) |
S80P |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,600,153 (GRCm39) |
|
probably null |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,115 (GRCm39) |
Y281H |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,632,079 (GRCm39) |
I37N |
unknown |
Het |
| Zfp329 |
G |
A |
7: 12,545,584 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
G |
T |
11: 73,974,005 (GRCm39) |
L91F |
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 |
|
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 |
|
|
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'- ATTCTGGTTAGAGGACAGCAGG -3'
(R):5'- GTGTGTCTTGCCAGATTCCC -3'
Sequencing Primer
(F):5'- TGGAGTCCAGAACAGCCTG -3'
(R):5'- CAGATTCCCTGGGGGTTGAGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation