Incidental Mutation 'R3830:Lpcat1'
| ID |
273965 |
| Institutional Source |
Beutler Lab
|
| 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: 0.216)
|
| Stock # |
R3830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
73615332-73664539 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73637212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 114
(I114T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022099]
[ENSMUST00000123766]
[ENSMUST00000147566]
[ENSMUST00000223060]
|
| AlphaFold |
Q3TFD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022099
AA Change: I162T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022099
Gene: ENSMUSG00000021608
AA Change: I162T
| 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 |
possibly damaging
Transcript: ENSMUST00000223060
AA Change: I114T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.2767 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat5 |
A |
G |
8: 18,929,621 (GRCm39) |
E250G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,294,670 (GRCm39) |
T960S |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
| Capn1 |
A |
T |
19: 6,044,877 (GRCm39) |
L465Q |
probably damaging |
Het |
| Cd300c |
A |
G |
11: 114,850,453 (GRCm39) |
F117L |
probably benign |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,804,905 (GRCm39) |
D1905E |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,313,443 (GRCm39) |
V204D |
probably damaging |
Het |
| Gclc |
A |
T |
9: 77,699,242 (GRCm39) |
I520L |
probably benign |
Het |
| Gpat3 |
A |
G |
5: 101,032,252 (GRCm39) |
D183G |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,618 (GRCm39) |
E563G |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,228 (GRCm39) |
L332* |
probably null |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,520,643 (GRCm39) |
S198N |
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,012,112 (GRCm39) |
I231T |
probably benign |
Het |
| Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Or2b11 |
G |
T |
11: 59,462,427 (GRCm39) |
N46K |
probably damaging |
Het |
| Pigb |
T |
C |
9: 72,924,755 (GRCm39) |
N468S |
probably benign |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,823,400 (GRCm39) |
T123A |
probably damaging |
Het |
| Ptges3l |
T |
C |
11: 101,312,443 (GRCm39) |
*67W |
probably null |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Six2 |
G |
T |
17: 85,992,615 (GRCm39) |
S296Y |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,463,081 (GRCm39) |
C392* |
probably null |
Het |
| Snx5 |
A |
T |
2: 144,096,821 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,997 (GRCm39) |
F744Y |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCTTACAGGGTCGTGGAC -3'
(R):5'- TGCACATGACAGTACTGGGG -3'
Sequencing Primer
(F):5'- TGCTCAAGGCCATCATGC -3'
(R):5'- TACTGGGGGACATGTCAGTAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation