Incidental Mutation 'IGL01905:Lpcat4'
| ID |
179648 |
| 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: 0.891)
|
| Stock # |
IGL01905
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
112070186-112077456 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4905 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 112073388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028554]
[ENSMUST00000043970]
|
| AlphaFold |
Q6NVG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028554
AA Change: I231T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028554
Gene: ENSMUSG00000027134
AA Change: I231T
| 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 null
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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,903,582 (GRCm39) |
C245S |
probably damaging |
Het |
| Apol10b |
A |
G |
15: 77,469,559 (GRCm39) |
I206T |
possibly damaging |
Het |
| Bax |
A |
T |
7: 45,115,542 (GRCm39) |
I31N |
probably damaging |
Het |
| Ccdc116 |
C |
A |
16: 16,960,425 (GRCm39) |
V131L |
probably damaging |
Het |
| Ces2b |
C |
A |
8: 105,560,594 (GRCm39) |
N136K |
probably damaging |
Het |
| Csnk1d |
A |
T |
11: 120,864,789 (GRCm39) |
I65N |
probably damaging |
Het |
| Fam167b |
A |
G |
4: 129,470,892 (GRCm39) |
M152T |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Heatr6 |
C |
T |
11: 83,672,538 (GRCm39) |
S1182L |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,175,477 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Naaladl1 |
G |
A |
19: 6,165,577 (GRCm39) |
D744N |
possibly damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,522,077 (GRCm39) |
Y214* |
probably null |
Het |
| Proca1 |
A |
G |
11: 78,095,716 (GRCm39) |
H29R |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,532,898 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
G |
A |
1: 191,785,302 (GRCm39) |
P489S |
probably damaging |
Het |
| Rela |
A |
T |
19: 5,695,592 (GRCm39) |
N337I |
probably benign |
Het |
| Rnf123 |
C |
T |
9: 107,948,569 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
A |
11: 117,109,715 (GRCm39) |
S12T |
probably benign |
Het |
| Serpina1c |
A |
T |
12: 103,863,318 (GRCm39) |
L294Q |
possibly damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,832,301 (GRCm39) |
D740G |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp473 |
T |
C |
7: 44,383,151 (GRCm39) |
K394R |
probably benign |
Het |
| Zkscan7 |
C |
T |
9: 122,719,826 (GRCm39) |
P171S |
possibly damaging |
Het |
| Zmynd19 |
T |
A |
2: 24,841,541 (GRCm39) |
F36L |
probably benign |
Het |
|
| Other mutations in Lpcat4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02319:Lpcat4
|
APN |
2 |
112,074,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation