Incidental Mutation 'IGL01107:Lpcat1'
| ID |
52572 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lpcat1
|
| Ensembl Gene |
ENSMUSG00000021608 |
| Gene Name |
lysophosphatidylcholine acyltransferase 1 |
| Synonyms |
2900035H07Rik, rd11, LPCAT, Aytl2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
IGL01107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73615332-73664539 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73642947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 126
(F126I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022099]
[ENSMUST00000123766]
[ENSMUST00000147566]
[ENSMUST00000223060]
|
| AlphaFold |
Q3TFD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022099
AA Change: F174I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022099
Gene: ENSMUSG00000021608
AA Change: F174I
| 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 damaging
Transcript: ENSMUST00000223060
AA Change: F126I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,687,948 (GRCm39) |
F215Y |
probably damaging |
Het |
| 2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
| Akip1 |
C |
T |
7: 109,311,045 (GRCm39) |
T195M |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,364,701 (GRCm39) |
N631S |
probably benign |
Het |
| Brat1 |
C |
T |
5: 140,702,932 (GRCm39) |
S544L |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnajc4 |
C |
T |
19: 6,966,869 (GRCm39) |
R153H |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,742,752 (GRCm39) |
D343G |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
| Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
| Ilrun |
A |
T |
17: 28,005,043 (GRCm39) |
|
probably null |
Het |
| Krt86 |
T |
A |
15: 101,373,306 (GRCm39) |
L200Q |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
| Pramel13 |
A |
T |
4: 144,119,664 (GRCm39) |
I301N |
probably benign |
Het |
| Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
| Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
| Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably damaging |
Het |
| Zdhhc20 |
T |
A |
14: 58,103,046 (GRCm39) |
E101V |
probably damaging |
Het |
|
| Other mutations in Lpcat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4987:Lpcat1
|
UTSW |
13 |
73,637,222 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation