Incidental Mutation 'IGL02950:Lpcat4'
| ID |
364936 |
| 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 # |
IGL02950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
112070186-112077456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 112074387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 287
(N287K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028554]
[ENSMUST00000043970]
|
| AlphaFold |
Q6NVG1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028554
AA Change: N287K
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028554
Gene: ENSMUSG00000027134
AA Change: N287K
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,814,406 (GRCm39) |
S1129C |
possibly damaging |
Het |
| Afm |
A |
T |
5: 90,679,466 (GRCm39) |
D320V |
probably damaging |
Het |
| Ap5m1 |
C |
T |
14: 49,311,392 (GRCm39) |
T154I |
probably benign |
Het |
| Bcl11b |
G |
A |
12: 107,956,065 (GRCm39) |
T28I |
probably benign |
Het |
| Bhlhe40 |
G |
T |
6: 108,641,503 (GRCm39) |
C149F |
probably damaging |
Het |
| Bmper |
A |
T |
9: 23,310,790 (GRCm39) |
D408V |
probably damaging |
Het |
| C1rl |
G |
A |
6: 124,485,820 (GRCm39) |
C397Y |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,665 (GRCm39) |
S161P |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,819,564 (GRCm39) |
K1118N |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,376,191 (GRCm39) |
|
probably benign |
Het |
| Cp |
T |
C |
3: 20,042,165 (GRCm39) |
Y978H |
probably damaging |
Het |
| Csf2ra |
T |
C |
19: 61,215,607 (GRCm39) |
D37G |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,801 (GRCm39) |
V596A |
probably damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,886,785 (GRCm39) |
S82G |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,331,753 (GRCm39) |
Y46C |
probably damaging |
Het |
| Eno2 |
A |
T |
6: 124,740,081 (GRCm39) |
D318E |
probably damaging |
Het |
| Gm43738 |
A |
C |
3: 88,996,355 (GRCm39) |
L120R |
probably damaging |
Het |
| Hgsnat |
C |
A |
8: 26,461,729 (GRCm39) |
C29F |
probably damaging |
Het |
| Hltf |
T |
A |
3: 20,130,736 (GRCm39) |
V318D |
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,263,795 (GRCm39) |
H764R |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,892,142 (GRCm39) |
F411S |
probably benign |
Het |
| Ltbp4 |
A |
C |
7: 27,006,143 (GRCm39) |
F1512V |
probably damaging |
Het |
| Mctp1 |
A |
T |
13: 77,172,929 (GRCm39) |
L868F |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,713,360 (GRCm39) |
|
probably benign |
Het |
| Or5g23 |
A |
T |
2: 85,438,501 (GRCm39) |
L251Q |
possibly damaging |
Het |
| Otub2 |
A |
G |
12: 103,369,632 (GRCm39) |
D237G |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,079,997 (GRCm39) |
V463A |
probably benign |
Het |
| Podn |
T |
C |
4: 107,875,048 (GRCm39) |
K573R |
possibly damaging |
Het |
| Ppp5c |
A |
C |
7: 16,740,835 (GRCm39) |
S378A |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,939,531 (GRCm39) |
V2A |
probably benign |
Het |
| Prl2a1 |
T |
A |
13: 27,988,914 (GRCm39) |
L13Q |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,641,526 (GRCm39) |
T70A |
probably damaging |
Het |
| Ralyl |
C |
A |
3: 14,104,781 (GRCm39) |
N15K |
probably damaging |
Het |
| Rbck1 |
C |
T |
2: 152,172,997 (GRCm39) |
R17Q |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,796,884 (GRCm39) |
Y973H |
probably damaging |
Het |
| Sh2d6 |
A |
G |
6: 72,492,285 (GRCm39) |
V260A |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,196,819 (GRCm39) |
P3559S |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,494,535 (GRCm39) |
V1032D |
probably damaging |
Het |
| Trav12-1 |
T |
A |
14: 53,776,024 (GRCm39) |
V59E |
probably damaging |
Het |
| Unc93a |
T |
A |
17: 13,344,455 (GRCm39) |
Q29L |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,808,525 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02319:Lpcat4
|
APN |
2 |
112,074,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation