Incidental Mutation 'R4001:Lpcat4'
ID |
312468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpcat4
|
Ensembl Gene |
ENSMUSG00000027134 |
Gene Name |
lysophosphatidylcholine acyltransferase 4 |
Synonyms |
Agpat7, LPEAT2, Aytl3 |
MMRRC Submission |
040844-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.897)
|
Stock # |
R4001 (G1)
|
Quality Score |
185 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
112070186-112077456 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 112070296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 3
(Q3L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028554]
|
AlphaFold |
Q6NVG1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028554
AA Change: Q3L
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000028554 Gene: ENSMUSG00000027134 AA Change: Q3L
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 |
noncoding transcript
Transcript: ENSMUST00000129503
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132314
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136219
|
Meta Mutation Damage Score |
0.0606 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
100% (28/28) |
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 |
Aars1 |
C |
A |
8: 111,768,234 (GRCm39) |
H202N |
probably damaging |
Het |
Aipl1 |
T |
A |
11: 71,922,428 (GRCm39) |
T94S |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
Clip4 |
A |
T |
17: 72,106,071 (GRCm39) |
I85L |
probably damaging |
Het |
Cntnap5c |
G |
A |
17: 58,714,735 (GRCm39) |
|
probably null |
Het |
Fbn1 |
A |
G |
2: 125,319,415 (GRCm39) |
|
probably null |
Het |
Hivep2 |
A |
G |
10: 14,003,476 (GRCm39) |
R25G |
probably damaging |
Het |
Klhdc7b |
A |
G |
15: 89,272,187 (GRCm39) |
N1023S |
probably damaging |
Het |
Lipi |
T |
A |
16: 75,370,759 (GRCm39) |
R153* |
probably null |
Het |
Naa16 |
C |
A |
14: 79,580,561 (GRCm39) |
|
probably null |
Het |
Nalcn |
G |
T |
14: 123,834,006 (GRCm39) |
N56K |
probably damaging |
Het |
Obscn |
C |
G |
11: 59,025,395 (GRCm39) |
A412P |
probably damaging |
Het |
Or1e23 |
A |
G |
11: 73,407,812 (GRCm39) |
L71P |
probably damaging |
Het |
Pde8a |
T |
A |
7: 80,967,104 (GRCm39) |
L415Q |
probably damaging |
Het |
Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
Rbms2 |
C |
T |
10: 127,987,169 (GRCm39) |
S13N |
probably benign |
Het |
Rgsl1 |
A |
G |
1: 153,693,330 (GRCm39) |
L617P |
probably damaging |
Het |
Sap18b |
T |
C |
8: 96,552,068 (GRCm39) |
V26A |
probably benign |
Het |
Senp2 |
T |
C |
16: 21,847,318 (GRCm39) |
L282P |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,131,339 (GRCm39) |
M826T |
probably damaging |
Het |
Tmc3 |
T |
C |
7: 83,269,271 (GRCm39) |
S820P |
probably benign |
Het |
Tmprss3 |
T |
C |
17: 31,405,533 (GRCm39) |
N353S |
probably damaging |
Het |
Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,035,566 (GRCm39) |
S1562P |
probably damaging |
Het |
Uaca |
G |
A |
9: 60,778,366 (GRCm39) |
V916I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCATCCGGAAAGTGAC -3'
(R):5'- TAAGCTGGAGTCCTCACCAAG -3'
Sequencing Primer
(F):5'- AAAGTGACCAGGGCGCTC -3'
(R):5'- GAGTCCTCACCAAGGCTCCTC -3'
|
Posted On |
2015-04-29 |