Incidental Mutation 'IGL00742:Lpgat1'
ID |
11800 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lpgat1
|
Ensembl Gene |
ENSMUSG00000026623 |
Gene Name |
lysophosphatidylglycerol acyltransferase 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.570)
|
Stock # |
IGL00742
|
Quality Score |
|
Status
|
|
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 |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
G |
T |
15: 76,473,300 (GRCm39) |
A50S |
possibly damaging |
Het |
Adgrg2 |
C |
T |
X: 159,271,715 (GRCm39) |
T778M |
probably damaging |
Het |
Aimp1 |
G |
A |
3: 132,377,742 (GRCm39) |
Q208* |
probably null |
Het |
Auh |
T |
C |
13: 52,992,138 (GRCm39) |
E210G |
probably damaging |
Het |
Cdh20 |
T |
G |
1: 109,993,356 (GRCm39) |
N270K |
probably benign |
Het |
Chrna9 |
A |
G |
5: 66,128,458 (GRCm39) |
E218G |
probably benign |
Het |
Cntn5 |
G |
T |
9: 9,976,302 (GRCm39) |
T214K |
probably damaging |
Het |
Col11a1 |
A |
T |
3: 113,917,964 (GRCm39) |
D766V |
unknown |
Het |
Ddb1 |
A |
G |
19: 10,588,124 (GRCm39) |
N203S |
probably benign |
Het |
Eefsec |
A |
T |
6: 88,353,261 (GRCm39) |
L136Q |
possibly damaging |
Het |
Hdac6 |
T |
C |
X: 7,797,568 (GRCm39) |
D1019G |
probably benign |
Het |
Ift88 |
T |
A |
14: 57,718,843 (GRCm39) |
|
probably benign |
Het |
Igf1r |
T |
A |
7: 67,839,771 (GRCm39) |
C693S |
probably benign |
Het |
Il18r1 |
T |
A |
1: 40,520,151 (GRCm39) |
S181T |
probably benign |
Het |
Krt35 |
T |
C |
11: 99,984,785 (GRCm39) |
Q291R |
probably damaging |
Het |
Krt81 |
G |
A |
15: 101,358,159 (GRCm39) |
R365C |
probably benign |
Het |
Lpin3 |
A |
G |
2: 160,735,918 (GRCm39) |
D66G |
probably damaging |
Het |
Map9 |
T |
C |
3: 82,270,727 (GRCm39) |
V97A |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,328,769 (GRCm39) |
E1129G |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,935,104 (GRCm39) |
H200L |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,438,788 (GRCm39) |
L2031S |
probably damaging |
Het |
Nfatc1 |
C |
T |
18: 80,741,229 (GRCm39) |
R243H |
probably benign |
Het |
Omg |
T |
A |
11: 79,394,739 (GRCm39) |
|
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,563 (GRCm39) |
Y293F |
probably damaging |
Het |
Postn |
T |
A |
3: 54,280,315 (GRCm39) |
N413K |
possibly damaging |
Het |
Ppp1r3a |
T |
C |
6: 14,718,608 (GRCm39) |
T769A |
probably benign |
Het |
Pvr |
G |
A |
7: 19,648,784 (GRCm39) |
P244S |
probably damaging |
Het |
Rabl6 |
T |
C |
2: 25,478,699 (GRCm39) |
E244G |
probably damaging |
Het |
Satb2 |
A |
T |
1: 56,870,700 (GRCm39) |
N428K |
possibly damaging |
Het |
Svopl |
A |
G |
6: 38,007,952 (GRCm39) |
|
probably null |
Het |
Synpo2 |
G |
T |
3: 122,907,525 (GRCm39) |
P597Q |
probably damaging |
Het |
Tacc3 |
T |
A |
5: 33,818,578 (GRCm39) |
H4Q |
possibly damaging |
Het |
Ugt2b5 |
C |
T |
5: 87,275,673 (GRCm39) |
G393S |
probably damaging |
Het |
Vmn2r5 |
A |
G |
3: 64,398,834 (GRCm39) |
I715T |
possibly damaging |
Het |
|
Other mutations in Lpgat1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R2440:Lpgat1
|
UTSW |
1 |
191,492,321 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
Posted On |
2012-12-06 |