Incidental Mutation 'R3774:Gpat4'
ID |
273508 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpat4
|
Ensembl Gene |
ENSMUSG00000031545 |
Gene Name |
glycerol-3-phosphate acyltransferase 4 |
Synonyms |
Agpat6 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.420)
|
Stock # |
R3774 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
23661281-23698362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23670171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 286
(P286L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167004]
[ENSMUST00000209507]
|
AlphaFold |
Q8K2C8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167004
AA Change: P286L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127325 Gene: ENSMUSG00000031545 AA Change: P286L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210782
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211260
|
Meta Mutation Damage Score |
0.9423 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
A |
G |
3: 153,638,734 (GRCm39) |
V213A |
probably benign |
Het |
Ccndbp1 |
A |
G |
2: 120,839,581 (GRCm39) |
K26R |
possibly damaging |
Het |
Chrna10 |
T |
C |
7: 101,763,535 (GRCm39) |
T87A |
probably benign |
Het |
Col27a1 |
T |
A |
4: 63,232,963 (GRCm39) |
N360K |
probably benign |
Het |
Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,864,022 (GRCm39) |
I79N |
probably damaging |
Het |
Dhdh |
T |
A |
7: 45,131,362 (GRCm39) |
D157V |
probably benign |
Het |
Dnajc15 |
A |
T |
14: 78,094,377 (GRCm39) |
|
probably null |
Het |
Fbxo44 |
G |
T |
4: 148,241,051 (GRCm39) |
F179L |
probably damaging |
Het |
Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
Itgav |
A |
G |
2: 83,622,308 (GRCm39) |
E630G |
probably damaging |
Het |
Iws1 |
T |
C |
18: 32,213,048 (GRCm39) |
S159P |
probably damaging |
Het |
Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
Mon1a |
A |
G |
9: 107,778,502 (GRCm39) |
Y242C |
probably damaging |
Het |
Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
Olfm5 |
T |
A |
7: 103,811,056 (GRCm39) |
R27S |
possibly damaging |
Het |
Or52n2b |
T |
A |
7: 104,566,113 (GRCm39) |
Y130F |
probably benign |
Het |
Palmd |
T |
C |
3: 116,721,312 (GRCm39) |
E81G |
probably damaging |
Het |
Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
Phf11b |
A |
G |
14: 59,563,506 (GRCm39) |
L137S |
probably benign |
Het |
Phlpp1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
1: 106,320,921 (GRCm39) |
|
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,800,065 (GRCm39) |
K472E |
probably benign |
Het |
Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
Pomt1 |
A |
G |
2: 32,134,262 (GRCm39) |
H261R |
possibly damaging |
Het |
Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
Rad23b |
C |
T |
4: 55,382,589 (GRCm39) |
T264I |
possibly damaging |
Het |
Rfc1 |
T |
C |
5: 65,421,749 (GRCm39) |
Y1050C |
probably damaging |
Het |
Septin8 |
T |
C |
11: 53,428,406 (GRCm39) |
V352A |
probably damaging |
Het |
Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
Ssh1 |
T |
C |
5: 114,104,783 (GRCm39) |
D12G |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
Trpm3 |
T |
A |
19: 22,965,339 (GRCm39) |
S1611R |
probably benign |
Het |
Ttyh3 |
A |
G |
5: 140,634,489 (GRCm39) |
F32L |
probably damaging |
Het |
Unkl |
T |
A |
17: 25,407,381 (GRCm39) |
|
probably null |
Het |
Vwf |
T |
A |
6: 125,626,062 (GRCm39) |
|
probably null |
Het |
Wdr11 |
T |
A |
7: 129,233,417 (GRCm39) |
|
probably null |
Het |
Yeats2 |
A |
G |
16: 19,969,245 (GRCm39) |
D12G |
probably 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 |
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 |
|
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 |
|
Posted On |
2015-03-25 |