Incidental Mutation 'IGL01126:Pla1a'
| ID |
52953 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pla1a
|
| Ensembl Gene |
ENSMUSG00000002847 |
| Gene Name |
phospholipase A1 member A |
| Synonyms |
Ps-pla1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38216479-38253507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38228001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 292
(D292G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002926]
|
| AlphaFold |
Q8VI78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002926
AA Change: D292G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002926
Gene: ENSMUSG00000002847
AA Change: D292G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
15 |
336 |
9.4e-111 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Aldh9a1 |
C |
T |
1: 167,192,143 (GRCm39) |
T425I |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Dnah5 |
T |
G |
15: 28,302,545 (GRCm39) |
F1601V |
possibly damaging |
Het |
| Dock7 |
A |
G |
4: 98,861,789 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,116,588 (GRCm39) |
I83V |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,577,336 (GRCm39) |
E76G |
possibly damaging |
Het |
| Map3k19 |
T |
A |
1: 127,752,068 (GRCm39) |
K428* |
probably null |
Het |
| Phkb |
T |
C |
8: 86,672,730 (GRCm39) |
M365T |
probably benign |
Het |
| Phyhip |
A |
G |
14: 70,700,797 (GRCm39) |
S95G |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,487,185 (GRCm39) |
V496D |
probably benign |
Het |
| Rasal3 |
T |
C |
17: 32,616,379 (GRCm39) |
T271A |
possibly damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,651,648 (GRCm39) |
N520D |
possibly damaging |
Het |
| Sugp2 |
T |
C |
8: 70,704,524 (GRCm39) |
L687P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,537,590 (GRCm39) |
H34779Q |
probably benign |
Het |
| Txlna |
A |
G |
4: 129,528,158 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,129,866 (GRCm39) |
M662K |
probably benign |
Het |
| Ugt1a10 |
C |
A |
1: 87,983,709 (GRCm39) |
A169E |
possibly damaging |
Het |
|
| Other mutations in Pla1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Pla1a
|
APN |
16 |
38,235,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01086:Pla1a
|
APN |
16 |
38,227,984 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1674:Pla1a
|
UTSW |
16 |
38,235,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2101:Pla1a
|
UTSW |
16 |
38,235,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2415:Pla1a
|
UTSW |
16 |
38,228,112 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2987:Pla1a
|
UTSW |
16 |
38,228,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4492:Pla1a
|
UTSW |
16 |
38,229,972 (GRCm39) |
missense |
probably benign |
|
|
R5365:Pla1a
|
UTSW |
16 |
38,237,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5424:Pla1a
|
UTSW |
16 |
38,235,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Pla1a
|
UTSW |
16 |
38,237,486 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6388:Pla1a
|
UTSW |
16 |
38,217,834 (GRCm39) |
missense |
probably benign |
|
|
R6443:Pla1a
|
UTSW |
16 |
38,229,949 (GRCm39) |
splice site |
probably null |
|
|
R6996:Pla1a
|
UTSW |
16 |
38,217,830 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7021:Pla1a
|
UTSW |
16 |
38,221,244 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7519:Pla1a
|
UTSW |
16 |
38,235,208 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8715:Pla1a
|
UTSW |
16 |
38,230,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation