Incidental Mutation 'IGL00592:Pla1a'
| ID |
332737 |
| 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 # |
IGL00592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38216479-38253507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38235212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 161
(H161N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002926]
|
| AlphaFold |
Q8VI78 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002926
AA Change: H161N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002926
Gene: ENSMUSG00000002847
AA Change: H161N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
15 |
336 |
9.4e-111 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232224
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
A |
G |
3: 138,126,397 (GRCm39) |
I91V |
probably damaging |
Het |
| Ak6 |
T |
C |
13: 100,800,599 (GRCm39) |
V74A |
probably benign |
Het |
| Antxr1 |
C |
A |
6: 87,265,784 (GRCm39) |
V110F |
probably damaging |
Het |
| Anxa1 |
T |
C |
19: 20,355,033 (GRCm39) |
D247G |
probably benign |
Het |
| Dgkg |
T |
C |
16: 22,298,112 (GRCm39) |
|
probably benign |
Het |
| Eva1b |
T |
C |
4: 126,043,443 (GRCm39) |
M161T |
probably benign |
Het |
| Fbxw22 |
C |
A |
9: 109,213,108 (GRCm39) |
V280F |
possibly damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,378 (GRCm39) |
S288P |
probably damaging |
Het |
| Masp2 |
C |
T |
4: 148,687,186 (GRCm39) |
P23S |
probably benign |
Het |
| Ncam1 |
T |
A |
9: 49,434,865 (GRCm39) |
D600V |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,626,139 (GRCm39) |
N1115S |
probably damaging |
Het |
| Pdia2 |
A |
G |
17: 26,417,090 (GRCm39) |
V109A |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,223,424 (GRCm39) |
D39E |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,883 (GRCm39) |
D319G |
probably damaging |
Het |
| Sgms2 |
A |
G |
3: 131,135,482 (GRCm39) |
S131P |
possibly damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,827,305 (GRCm39) |
Q319L |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,722,566 (GRCm39) |
I636T |
probably benign |
Het |
| Tas2r131 |
T |
G |
6: 132,934,159 (GRCm39) |
T217P |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,219,723 (GRCm39) |
M198V |
possibly damaging |
Het |
| Ube2b |
A |
C |
11: 51,877,546 (GRCm39) |
V141G |
probably damaging |
Het |
| Ube2l6 |
T |
A |
2: 84,639,373 (GRCm39) |
V112E |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,934 (GRCm39) |
I272T |
probably benign |
Het |
| Xylb |
C |
T |
9: 119,219,549 (GRCm39) |
Q513* |
probably null |
Het |
| Zbtb4 |
T |
A |
11: 69,667,557 (GRCm39) |
C287* |
probably null |
Het |
|
| Other mutations in Pla1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Pla1a
|
APN |
16 |
38,227,984 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01126:Pla1a
|
APN |
16 |
38,228,001 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-08-05 |
Incidental Mutation