Incidental Mutation 'R2440:Lpgat1'
| ID |
249748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpgat1
|
| Ensembl Gene |
ENSMUSG00000026623 |
| Gene Name |
lysophosphatidylglycerol acyltransferase 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.607)
|
| Stock # |
R2440 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
191449946-191516367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 191492321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 269
(E269G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110855]
[ENSMUST00000110856]
[ENSMUST00000130876]
|
| AlphaFold |
Q91YX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110855
AA Change: E230G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000106479
Gene: ENSMUSG00000026623
AA Change: E230G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
219 |
2.16e-10 |
SMART |
|
transmembrane domain
|
339 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110856
AA Change: E269G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106480
Gene: ENSMUSG00000026623
AA Change: E269G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
PlsC
|
134 |
258 |
2.16e-10 |
SMART |
|
Pfam:Acyltransf_C
|
310 |
384 |
1.5e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130876
|
| SMART Domains |
Protein: ENSMUSP00000114382
Gene: ENSMUSG00000026623
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
219 |
2.16e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180108
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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 lysophospholipid acyltransferase family. The encoded protein catalyzes the reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,888,129 (GRCm39) |
T104A |
probably benign |
Het |
| Adar |
A |
G |
3: 89,642,161 (GRCm39) |
H14R |
possibly damaging |
Het |
| Albfm1 |
A |
G |
5: 90,720,548 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
A |
16: 52,125,976 (GRCm39) |
M114L |
probably damaging |
Het |
| Ccn4 |
T |
A |
15: 66,784,706 (GRCm39) |
D126E |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Coch |
T |
C |
12: 51,643,345 (GRCm39) |
S122P |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,738 (GRCm39) |
K247E |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,949,764 (GRCm39) |
D8G |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,183,491 (GRCm39) |
T751I |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,067,205 (GRCm39) |
V904A |
probably benign |
Het |
| Or12j5 |
T |
A |
7: 140,083,465 (GRCm39) |
K302N |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,063,731 (GRCm39) |
|
probably benign |
Het |
| Rita1 |
T |
C |
5: 120,748,004 (GRCm39) |
Y98C |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,803,919 (GRCm39) |
|
probably null |
Het |
| Sv2c |
A |
G |
13: 96,185,084 (GRCm39) |
Y198H |
probably damaging |
Het |
| Svs3a |
T |
C |
2: 164,131,551 (GRCm39) |
F41L |
possibly damaging |
Het |
| Tigd2 |
A |
G |
6: 59,186,980 (GRCm39) |
|
probably benign |
Het |
| Tubb4a |
C |
A |
17: 57,393,285 (GRCm39) |
G38W |
probably damaging |
Het |
| Tyrp1 |
G |
A |
4: 80,764,843 (GRCm39) |
V7I |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,978,805 (GRCm39) |
Y615H |
probably damaging |
Het |
|
| Other mutations in Lpgat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Lpgat1
|
APN |
1 |
191,492,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01410:Lpgat1
|
APN |
1 |
191,508,544 (GRCm39) |
splice site |
probably null |
|
|
R0324:Lpgat1
|
UTSW |
1 |
191,481,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0386:Lpgat1
|
UTSW |
1 |
191,451,460 (GRCm39) |
splice site |
probably benign |
|
|
R1568:Lpgat1
|
UTSW |
1 |
191,508,538 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1616:Lpgat1
|
UTSW |
1 |
191,495,741 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4087:Lpgat1
|
UTSW |
1 |
191,495,728 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4152:Lpgat1
|
UTSW |
1 |
191,451,600 (GRCm39) |
nonsense |
probably null |
|
|
R4720:Lpgat1
|
UTSW |
1 |
191,495,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Lpgat1
|
UTSW |
1 |
191,451,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Lpgat1
|
UTSW |
1 |
191,508,494 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6343:Lpgat1
|
UTSW |
1 |
191,508,684 (GRCm39) |
splice site |
probably null |
|
|
R7326:Lpgat1
|
UTSW |
1 |
191,451,565 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8926:Lpgat1
|
UTSW |
1 |
191,492,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9096:Lpgat1
|
UTSW |
1 |
191,451,569 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9339:Lpgat1
|
UTSW |
1 |
191,451,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9750:Lpgat1
|
UTSW |
1 |
191,510,587 (GRCm39) |
missense |
probably benign |
0.05 |
|
RF014:Lpgat1
|
UTSW |
1 |
191,450,665 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Lpgat1
|
UTSW |
1 |
191,510,587 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAGCTGCTGGTTCTCAAG -3'
(R):5'- ACTGACGGGTAGGAAAGTCATC -3'
Sequencing Primer
(F):5'- GCACCTTGAACATAATTACAGGAG -3'
(R):5'- GGTTTCTACAGTTCCAGGACAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation