Incidental Mutation 'IGL01660:Gpat4'
ID |
103155 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01660
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
23661281-23698362 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 23665354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167004]
|
AlphaFold |
Q8K2C8 |
Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000210782
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211260
|
Coding Region Coverage |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
A |
G |
19: 34,229,191 (GRCm39) |
I66T |
probably damaging |
Het |
Actl11 |
T |
C |
9: 107,806,247 (GRCm39) |
V190A |
probably benign |
Het |
Ankub1 |
T |
A |
3: 57,597,817 (GRCm39) |
Y51F |
possibly damaging |
Het |
Armh3 |
A |
T |
19: 45,928,915 (GRCm39) |
L393H |
probably damaging |
Het |
Ccdc63 |
G |
A |
5: 122,249,027 (GRCm39) |
S434L |
possibly damaging |
Het |
Cdan1 |
T |
A |
2: 120,556,134 (GRCm39) |
I711F |
possibly damaging |
Het |
Cep170b |
C |
A |
12: 112,710,594 (GRCm39) |
N1474K |
probably damaging |
Het |
Cyp2c40 |
A |
G |
19: 39,775,254 (GRCm39) |
S333P |
probably damaging |
Het |
Dars1 |
A |
G |
1: 128,343,081 (GRCm39) |
|
probably benign |
Het |
Dock3 |
T |
A |
9: 106,909,563 (GRCm39) |
|
probably benign |
Het |
Dsp |
A |
G |
13: 38,360,471 (GRCm39) |
I359V |
possibly damaging |
Het |
Fut8 |
T |
G |
12: 77,497,032 (GRCm39) |
L414* |
probably null |
Het |
Gja1 |
A |
G |
10: 56,264,544 (GRCm39) |
Y301C |
probably damaging |
Het |
Glipr1l1 |
T |
C |
10: 111,908,184 (GRCm39) |
S161P |
probably damaging |
Het |
Grhl1 |
T |
A |
12: 24,658,577 (GRCm39) |
|
probably null |
Het |
Hectd3 |
T |
C |
4: 116,853,569 (GRCm39) |
V181A |
possibly damaging |
Het |
Htr2a |
T |
A |
14: 74,943,194 (GRCm39) |
I258N |
probably damaging |
Het |
Hyou1 |
T |
A |
9: 44,292,414 (GRCm39) |
D83E |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,676,715 (GRCm39) |
L862Q |
probably benign |
Het |
Nkx2-2 |
T |
C |
2: 147,027,833 (GRCm39) |
S36G |
probably benign |
Het |
Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
Nuak2 |
T |
C |
1: 132,259,308 (GRCm39) |
V362A |
probably benign |
Het |
Nyap2 |
G |
A |
1: 81,169,642 (GRCm39) |
C133Y |
probably damaging |
Het |
Oas2 |
T |
C |
5: 120,879,288 (GRCm39) |
T351A |
probably benign |
Het |
Or11m3 |
C |
T |
15: 98,396,076 (GRCm39) |
T241I |
probably damaging |
Het |
Or5m13 |
T |
C |
2: 85,748,908 (GRCm39) |
I213T |
probably benign |
Het |
Pde4d |
A |
T |
13: 110,074,606 (GRCm39) |
I404F |
probably damaging |
Het |
Pga5 |
A |
G |
19: 10,652,456 (GRCm39) |
S95P |
probably damaging |
Het |
Pitpnm2 |
A |
T |
5: 124,261,257 (GRCm39) |
D947E |
probably damaging |
Het |
Pla2g10 |
C |
T |
16: 13,545,950 (GRCm39) |
R28H |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,317,676 (GRCm39) |
D84G |
probably damaging |
Het |
Rbm15b |
C |
T |
9: 106,762,908 (GRCm39) |
G420D |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,496,153 (GRCm39) |
T1063A |
probably benign |
Het |
Tmc2 |
C |
T |
2: 130,102,144 (GRCm39) |
Q770* |
probably null |
Het |
Tpo |
T |
C |
12: 30,169,399 (GRCm39) |
|
probably benign |
Het |
Vim |
A |
G |
2: 13,579,624 (GRCm39) |
N128D |
probably damaging |
Het |
Vmn1r21 |
A |
T |
6: 57,821,222 (GRCm39) |
I74N |
probably damaging |
Het |
Vmn2r52 |
A |
C |
7: 9,893,107 (GRCm39) |
I677M |
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 |
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 |
|
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 |
|
|
Posted On |
2014-01-21 |