Incidental Mutation 'IGL02749:Gpat4'
| ID |
306182 |
| 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: 0.312)
|
| Stock # |
IGL02749
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
23661281-23698362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23670886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 109
(Y109N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167004]
[ENSMUST00000209507]
|
| AlphaFold |
Q8K2C8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167004
AA Change: Y231N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127325
Gene: ENSMUSG00000031545
AA Change: Y231N
| 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 damaging
Transcript: ENSMUST00000209507
AA Change: Y109N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230104M06Rik |
T |
C |
12: 112,963,795 (GRCm39) |
D61G |
probably benign |
Het |
| Albfm1 |
T |
C |
5: 90,719,624 (GRCm39) |
V240A |
possibly damaging |
Het |
| Ascc2 |
G |
A |
11: 4,590,481 (GRCm39) |
|
probably null |
Het |
| Atrn |
C |
T |
2: 130,812,064 (GRCm39) |
Q670* |
probably null |
Het |
| Atrn |
G |
T |
2: 130,789,654 (GRCm39) |
|
probably benign |
Het |
| Calr |
A |
C |
8: 85,571,117 (GRCm39) |
W236G |
probably damaging |
Het |
| Camk2g |
T |
A |
14: 20,816,084 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
T |
3: 100,927,715 (GRCm39) |
T122K |
probably damaging |
Het |
| Cert1 |
T |
A |
13: 96,765,643 (GRCm39) |
N469K |
possibly damaging |
Het |
| Cryl1 |
T |
C |
14: 57,541,181 (GRCm39) |
T168A |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,156,261 (GRCm39) |
I684T |
probably damaging |
Het |
| Ednrb |
A |
T |
14: 104,060,495 (GRCm39) |
M266K |
possibly damaging |
Het |
| Eif4h |
T |
C |
5: 134,668,146 (GRCm39) |
D3G |
probably damaging |
Het |
| Eny2 |
C |
T |
15: 44,293,031 (GRCm39) |
R28C |
possibly damaging |
Het |
| Epsti1 |
A |
G |
14: 78,177,363 (GRCm39) |
E181G |
probably damaging |
Het |
| Ezh2 |
A |
G |
6: 47,510,698 (GRCm39) |
F598S |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 15,918,007 (GRCm39) |
T1472K |
possibly damaging |
Het |
| Gabra4 |
T |
A |
5: 71,795,490 (GRCm39) |
I262F |
probably benign |
Het |
| Gpsm1 |
C |
T |
2: 26,229,687 (GRCm39) |
T36I |
probably damaging |
Het |
| Hikeshi |
C |
T |
7: 89,585,097 (GRCm39) |
V36I |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,473,605 (GRCm39) |
M238V |
probably benign |
Het |
| Hnrnpll |
A |
T |
17: 80,369,420 (GRCm39) |
M1K |
probably null |
Het |
| Irx2 |
G |
A |
13: 72,779,429 (GRCm39) |
D238N |
probably damaging |
Het |
| Kcnip4 |
T |
A |
5: 48,567,127 (GRCm39) |
|
probably benign |
Het |
| Lair1 |
G |
A |
7: 4,031,900 (GRCm39) |
T69I |
possibly damaging |
Het |
| Lamc1 |
A |
G |
1: 153,125,599 (GRCm39) |
I558T |
possibly damaging |
Het |
| Map4k5 |
C |
T |
12: 69,862,580 (GRCm39) |
E639K |
probably benign |
Het |
| Mc4r |
A |
G |
18: 66,992,733 (GRCm39) |
S127P |
probably damaging |
Het |
| Mmp23 |
A |
G |
4: 155,735,989 (GRCm39) |
M221T |
possibly damaging |
Het |
| Mre11a |
T |
C |
9: 14,737,887 (GRCm39) |
S587P |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
| Nek9 |
C |
A |
12: 85,352,281 (GRCm39) |
A861S |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,163,560 (GRCm39) |
Y576N |
probably damaging |
Het |
| Or5w10 |
C |
T |
2: 87,375,001 (GRCm39) |
V296M |
probably damaging |
Het |
| Pcca |
A |
T |
14: 122,771,800 (GRCm39) |
T8S |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,466,900 (GRCm39) |
D1573G |
probably benign |
Het |
| Pdpr |
T |
A |
8: 111,844,722 (GRCm39) |
V373E |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,239,478 (GRCm39) |
L950Q |
possibly damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,624 (GRCm39) |
I415T |
probably damaging |
Het |
| Prss35 |
A |
C |
9: 86,638,297 (GRCm39) |
K356Q |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,456,944 (GRCm39) |
T237S |
possibly damaging |
Het |
| Rdh13 |
A |
G |
7: 4,430,703 (GRCm39) |
Y252H |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,613,112 (GRCm39) |
|
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,493 (GRCm39) |
V207I |
probably benign |
Het |
| Sparcl1 |
T |
G |
5: 104,240,746 (GRCm39) |
E226A |
possibly damaging |
Het |
| Srms |
C |
A |
2: 180,851,302 (GRCm39) |
A155S |
possibly damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,917 (GRCm39) |
I44N |
probably damaging |
Het |
| Tmem236 |
C |
T |
2: 14,224,132 (GRCm39) |
T307M |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,679,155 (GRCm39) |
P4788S |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,716 (GRCm39) |
L39F |
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,947,122 (GRCm39) |
*121R |
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 |
|
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 |
2015-04-16 |
Incidental Mutation