Incidental Mutation 'IGL02319:Lpcat4'
| ID |
288175 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lpcat4
|
| Ensembl Gene |
ENSMUSG00000027134 |
| Gene Name |
lysophosphatidylcholine acyltransferase 4 |
| Synonyms |
Agpat7, LPEAT2, Aytl3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.897)
|
| Stock # |
IGL02319
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
112070186-112077456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112074229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 264
(V264M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028554]
[ENSMUST00000043970]
|
| AlphaFold |
Q6NVG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028554
AA Change: V264M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028554
Gene: ENSMUSG00000027134
AA Change: V264M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
113 |
N/A |
INTRINSIC |
|
PlsC
|
123 |
234 |
5.73e-24 |
SMART |
|
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043970
|
| SMART Domains |
Protein: ENSMUSP00000048263
Gene: ENSMUSG00000041358
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUT
|
14 |
541 |
1.4e-210 |
PFAM |
|
low complexity region
|
840 |
854 |
N/A |
INTRINSIC |
|
Pfam:NUT
|
900 |
1123 |
6.7e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136219
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
C |
10: 106,784,611 (GRCm39) |
Y537C |
probably damaging |
Het |
| Ambra1 |
A |
G |
2: 91,717,265 (GRCm39) |
H854R |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,570,116 (GRCm39) |
N981S |
probably benign |
Het |
| Atp6v1d |
A |
G |
12: 78,908,230 (GRCm39) |
S2P |
probably damaging |
Het |
| Cd59a |
A |
T |
2: 103,944,373 (GRCm39) |
I74F |
possibly damaging |
Het |
| Chek2 |
T |
C |
5: 111,014,877 (GRCm39) |
Y449H |
possibly damaging |
Het |
| Ctif |
C |
T |
18: 75,654,944 (GRCm39) |
|
probably benign |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,946 (GRCm39) |
E403G |
probably damaging |
Het |
| Dock1 |
T |
G |
7: 134,374,178 (GRCm39) |
V608G |
possibly damaging |
Het |
| Fcf1 |
T |
C |
12: 85,017,982 (GRCm39) |
|
probably null |
Het |
| Fgf17 |
T |
G |
14: 70,874,183 (GRCm39) |
Q202P |
possibly damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,868,924 (GRCm39) |
L501Q |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klra6 |
A |
T |
6: 130,002,177 (GRCm39) |
S2R |
probably damaging |
Het |
| Krtap19-9b |
T |
A |
16: 88,729,002 (GRCm39) |
Y33F |
unknown |
Het |
| Lyzl6 |
T |
C |
11: 103,525,862 (GRCm39) |
Y86C |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,939,005 (GRCm39) |
K1669E |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,893,159 (GRCm39) |
V1558A |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,140 (GRCm39) |
I223T |
probably damaging |
Het |
| Or51l14 |
G |
A |
7: 103,101,474 (GRCm39) |
C310Y |
probably benign |
Het |
| Or5b105 |
A |
G |
19: 13,080,026 (GRCm39) |
I214T |
probably benign |
Het |
| Or8b47 |
T |
A |
9: 38,435,166 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex11b |
T |
C |
3: 96,550,885 (GRCm39) |
|
probably benign |
Het |
| Rbm5 |
A |
T |
9: 107,621,064 (GRCm39) |
L689* |
probably null |
Het |
| Rd3 |
G |
T |
1: 191,715,452 (GRCm39) |
G76C |
probably null |
Het |
| Rgs16 |
A |
T |
1: 153,617,852 (GRCm39) |
I121F |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,681,485 (GRCm39) |
M264K |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,426,695 (GRCm39) |
E127G |
probably damaging |
Het |
| Trmt11 |
A |
T |
10: 30,436,869 (GRCm39) |
D290E |
probably damaging |
Het |
| Wdr35 |
C |
A |
12: 9,077,480 (GRCm39) |
|
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,214,914 (GRCm39) |
S1211P |
possibly damaging |
Het |
|
| Other mutations in Lpcat4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01905:Lpcat4
|
APN |
2 |
112,073,388 (GRCm39) |
splice site |
probably null |
|
|
IGL02950:Lpcat4
|
APN |
2 |
112,074,387 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03046:Lpcat4
|
UTSW |
2 |
112,072,334 (GRCm39) |
synonymous |
silent |
|
|
R0131:Lpcat4
|
UTSW |
2 |
112,077,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0131:Lpcat4
|
UTSW |
2 |
112,077,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0132:Lpcat4
|
UTSW |
2 |
112,077,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0271:Lpcat4
|
UTSW |
2 |
112,073,590 (GRCm39) |
splice site |
probably null |
|
|
R0884:Lpcat4
|
UTSW |
2 |
112,073,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Lpcat4
|
UTSW |
2 |
112,075,021 (GRCm39) |
missense |
probably benign |
|
|
R1731:Lpcat4
|
UTSW |
2 |
112,074,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Lpcat4
|
UTSW |
2 |
112,072,887 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2047:Lpcat4
|
UTSW |
2 |
112,075,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3924:Lpcat4
|
UTSW |
2 |
112,077,061 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4001:Lpcat4
|
UTSW |
2 |
112,070,296 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4326:Lpcat4
|
UTSW |
2 |
112,076,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5247:Lpcat4
|
UTSW |
2 |
112,072,860 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5959:Lpcat4
|
UTSW |
2 |
112,070,380 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7239:Lpcat4
|
UTSW |
2 |
112,073,052 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7434:Lpcat4
|
UTSW |
2 |
112,073,400 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7880:Lpcat4
|
UTSW |
2 |
112,070,376 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8002:Lpcat4
|
UTSW |
2 |
112,074,699 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9228:Lpcat4
|
UTSW |
2 |
112,072,418 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation