Incidental Mutation 'IGL01126:Pla1a'
ID52953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pla1a
Ensembl Gene ENSMUSG00000002847
Gene Namephospholipase A1 member A
SynonymsPs-pla1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL01126
Quality Score
Status
Chromosome16
Chromosomal Location38396117-38433145 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38407639 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,907,302 M299I probably damaging Het
Aldh9a1 C T 1: 167,364,574 T425I probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Col1a2 G A 6: 4,535,846 D939N unknown Het
Dnah5 T G 15: 28,302,399 F1601V possibly damaging Het
Dock7 A G 4: 98,973,552 probably benign Het
Dync2h1 T C 9: 7,116,588 I83V probably benign Het
Fbxw17 A G 13: 50,423,300 E76G possibly damaging Het
Map3k19 T A 1: 127,824,331 K428* probably null Het
Phkb T C 8: 85,946,101 M365T probably benign Het
Phyhip A G 14: 70,463,357 S95G probably benign Het
Prkdc T A 16: 15,669,321 V496D probably benign Het
Rasal3 T C 17: 32,397,405 T271A possibly damaging Het
Slc22a19 T C 19: 7,674,283 N520D possibly damaging Het
Sugp2 T C 8: 70,251,874 L687P probably damaging Het
Ttn A T 2: 76,707,246 H34779Q probably benign Het
Txlna A G 4: 129,634,365 probably benign Het
Ubr4 T A 4: 139,402,555 M662K probably benign Het
Ugt1a10 C A 1: 88,055,987 A169E possibly damaging Het
Other mutations in Pla1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Pla1a APN 16 38414850 missense probably damaging 1.00
IGL01086:Pla1a APN 16 38407622 missense probably benign 0.02
R1674:Pla1a UTSW 16 38414810 missense probably benign 0.00
R2101:Pla1a UTSW 16 38415368 missense probably damaging 0.99
R2415:Pla1a UTSW 16 38407750 missense possibly damaging 0.69
R2987:Pla1a UTSW 16 38407742 missense probably damaging 1.00
R4492:Pla1a UTSW 16 38409610 missense probably benign
R5365:Pla1a UTSW 16 38417207 missense probably benign 0.01
R5424:Pla1a UTSW 16 38414775 missense probably damaging 1.00
R6349:Pla1a UTSW 16 38417124 missense probably benign 0.04
R6388:Pla1a UTSW 16 38397472 missense probably benign
R6443:Pla1a UTSW 16 38409587 splice site probably null
R6996:Pla1a UTSW 16 38397468 missense probably benign 0.04
R7021:Pla1a UTSW 16 38400882 missense probably damaging 0.97
R7519:Pla1a UTSW 16 38414846 missense possibly damaging 0.82
Posted On2013-06-21