Incidental Mutation 'R4987:Lpcat1'
ID |
385922 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpcat1
|
Ensembl Gene |
ENSMUSG00000021608 |
Gene Name |
lysophosphatidylcholine acyltransferase 1 |
Synonyms |
2900035H07Rik, rd11, LPCAT, Aytl2 |
MMRRC Submission |
042581-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R4987 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
73615332-73664539 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 73637222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022099]
[ENSMUST00000022099]
[ENSMUST00000022099]
[ENSMUST00000123766]
[ENSMUST00000147566]
[ENSMUST00000223060]
[ENSMUST00000223060]
[ENSMUST00000223060]
|
AlphaFold |
Q3TFD2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022099
|
SMART Domains |
Protein: ENSMUSP00000022099 Gene: ENSMUSG00000021608
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
PlsC
|
129 |
239 |
2.91e-25 |
SMART |
Blast:PlsC
|
272 |
314 |
7e-9 |
BLAST |
EFh
|
383 |
411 |
5.47e-1 |
SMART |
EFh
|
420 |
448 |
4.98e1 |
SMART |
EFh
|
455 |
483 |
4.93e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000022099
|
SMART Domains |
Protein: ENSMUSP00000022099 Gene: ENSMUSG00000021608
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
PlsC
|
129 |
239 |
2.91e-25 |
SMART |
Blast:PlsC
|
272 |
314 |
7e-9 |
BLAST |
EFh
|
383 |
411 |
5.47e-1 |
SMART |
EFh
|
420 |
448 |
4.98e1 |
SMART |
EFh
|
455 |
483 |
4.93e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000022099
|
SMART Domains |
Protein: ENSMUSP00000022099 Gene: ENSMUSG00000021608
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
PlsC
|
129 |
239 |
2.91e-25 |
SMART |
Blast:PlsC
|
272 |
314 |
7e-9 |
BLAST |
EFh
|
383 |
411 |
5.47e-1 |
SMART |
EFh
|
420 |
448 |
4.98e1 |
SMART |
EFh
|
455 |
483 |
4.93e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123766
|
SMART Domains |
Protein: ENSMUSP00000117965 Gene: ENSMUSG00000021608
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133791
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147566
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223060
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223060
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223060
|
Meta Mutation Damage Score |
0.9505 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.3%
|
Validation Efficiency |
98% (44/45) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016] PHENOTYPE: Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
T |
C |
6: 125,030,725 (GRCm39) |
S249P |
probably benign |
Het |
Adcy4 |
A |
G |
14: 56,010,934 (GRCm39) |
V661A |
probably benign |
Het |
Ahdc1 |
T |
G |
4: 132,791,631 (GRCm39) |
H957Q |
possibly damaging |
Het |
Atp10b |
A |
G |
11: 43,042,440 (GRCm39) |
|
probably benign |
Het |
B3gnt5 |
A |
T |
16: 19,587,952 (GRCm39) |
N57I |
probably damaging |
Het |
Brms1l |
T |
A |
12: 55,912,800 (GRCm39) |
D264E |
probably benign |
Het |
Camk1g |
T |
A |
1: 193,030,783 (GRCm39) |
N309Y |
probably damaging |
Het |
Chl1 |
A |
G |
6: 103,651,938 (GRCm39) |
T285A |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,454,635 (GRCm39) |
V227A |
probably benign |
Het |
Dennd1c |
G |
T |
17: 57,380,852 (GRCm39) |
T200K |
probably damaging |
Het |
Dpysl3 |
C |
A |
18: 43,461,492 (GRCm39) |
M566I |
probably benign |
Het |
Dscam |
A |
T |
16: 96,498,721 (GRCm39) |
D985E |
probably benign |
Het |
Fmo5 |
T |
C |
3: 97,542,894 (GRCm39) |
M68T |
probably benign |
Het |
Gm26996 |
A |
G |
6: 130,567,959 (GRCm39) |
|
unknown |
Het |
Gm9991 |
A |
T |
1: 90,603,138 (GRCm39) |
|
noncoding transcript |
Het |
Gzmc |
T |
A |
14: 56,468,997 (GRCm39) |
I241L |
probably damaging |
Het |
Hibadh |
A |
T |
6: 52,599,880 (GRCm39) |
S105R |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,384,890 (GRCm39) |
I402T |
probably benign |
Het |
Krtap31-2 |
A |
G |
11: 99,827,396 (GRCm39) |
D76G |
possibly damaging |
Het |
Lin9 |
A |
G |
1: 180,496,329 (GRCm39) |
S249G |
probably damaging |
Het |
Mfap4 |
A |
G |
11: 61,376,908 (GRCm39) |
I46V |
probably benign |
Het |
Nos1 |
T |
C |
5: 118,064,598 (GRCm39) |
|
probably null |
Het |
Nostrin |
A |
G |
2: 68,986,775 (GRCm39) |
M107V |
probably benign |
Het |
Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
Or8k33 |
A |
C |
2: 86,383,579 (GRCm39) |
D296E |
probably null |
Het |
Pcdha12 |
T |
A |
18: 37,154,604 (GRCm39) |
V441E |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,587,118 (GRCm39) |
|
probably benign |
Het |
Plscr1l1 |
T |
C |
9: 92,236,637 (GRCm39) |
S175P |
probably damaging |
Het |
Ppme1 |
T |
C |
7: 99,994,278 (GRCm39) |
D145G |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,724,630 (GRCm39) |
V793A |
probably damaging |
Het |
Rlbp1 |
A |
T |
7: 79,029,879 (GRCm39) |
V118E |
probably damaging |
Het |
Serinc2 |
C |
T |
4: 130,156,820 (GRCm39) |
|
probably null |
Het |
Slc25a32 |
A |
G |
15: 38,963,414 (GRCm39) |
C136R |
possibly damaging |
Het |
Smco2 |
A |
G |
6: 146,757,590 (GRCm39) |
D48G |
possibly damaging |
Het |
Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
Ubr1 |
A |
T |
2: 120,794,047 (GRCm39) |
L46I |
probably benign |
Het |
Wdsub1 |
A |
G |
2: 59,700,737 (GRCm39) |
|
probably benign |
Het |
Zp3 |
T |
A |
5: 136,016,359 (GRCm39) |
C320* |
probably null |
Het |
|
Other mutations in Lpcat1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01107:Lpcat1
|
APN |
13 |
73,642,947 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02869:Lpcat1
|
APN |
13 |
73,632,417 (GRCm39) |
missense |
probably damaging |
1.00 |
abajo
|
UTSW |
13 |
73,659,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R0064:Lpcat1
|
UTSW |
13 |
73,662,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R1666:Lpcat1
|
UTSW |
13 |
73,658,242 (GRCm39) |
critical splice donor site |
probably null |
|
R3826:Lpcat1
|
UTSW |
13 |
73,637,212 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3829:Lpcat1
|
UTSW |
13 |
73,637,212 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3830:Lpcat1
|
UTSW |
13 |
73,637,212 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6298:Lpcat1
|
UTSW |
13 |
73,659,074 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7066:Lpcat1
|
UTSW |
13 |
73,659,500 (GRCm39) |
missense |
probably benign |
0.00 |
R7165:Lpcat1
|
UTSW |
13 |
73,662,649 (GRCm39) |
missense |
probably benign |
0.11 |
R7552:Lpcat1
|
UTSW |
13 |
73,643,014 (GRCm39) |
missense |
probably damaging |
0.99 |
R7961:Lpcat1
|
UTSW |
13 |
73,659,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R8009:Lpcat1
|
UTSW |
13 |
73,659,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R8247:Lpcat1
|
UTSW |
13 |
73,662,071 (GRCm39) |
missense |
probably damaging |
0.98 |
R8482:Lpcat1
|
UTSW |
13 |
73,659,044 (GRCm39) |
missense |
probably benign |
0.14 |
R8943:Lpcat1
|
UTSW |
13 |
73,662,029 (GRCm39) |
missense |
probably benign |
0.00 |
R9224:Lpcat1
|
UTSW |
13 |
73,658,161 (GRCm39) |
missense |
probably damaging |
0.98 |
R9229:Lpcat1
|
UTSW |
13 |
73,653,650 (GRCm39) |
missense |
probably damaging |
0.98 |
R9332:Lpcat1
|
UTSW |
13 |
73,659,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R9509:Lpcat1
|
UTSW |
13 |
73,642,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R9591:Lpcat1
|
UTSW |
13 |
73,659,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTACAGGGTCGTGGACTTC -3'
(R):5'- TCTGCACATGACAGTACTGGG -3'
Sequencing Primer
(F):5'- TGCTCAAGGCCATCATGC -3'
(R):5'- TACTGGGGGACATGTCAGTAC -3'
|
Posted On |
2016-05-10 |