Incidental Mutation 'IGL01928:Pisd'
ID279141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pisd
Ensembl Gene ENSMUSG00000023452
Gene Namephosphatidylserine decarboxylase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01928
Quality Score
Status
Chromosome5
Chromosomal Location32736301-32785646 bp(-) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) C to A at 32739132 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061895] [ENSMUST00000061895] [ENSMUST00000071829] [ENSMUST00000071829] [ENSMUST00000120591] [ENSMUST00000120591] [ENSMUST00000135248] [ENSMUST00000142957] [ENSMUST00000144673] [ENSMUST00000144673] [ENSMUST00000197787] [ENSMUST00000200390] [ENSMUST00000202283]
Predicted Effect probably null
Transcript: ENSMUST00000061895
SMART Domains Protein: ENSMUSP00000051438
Gene: ENSMUSG00000023452

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 162 405 1.1e-71 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000061895
SMART Domains Protein: ENSMUSP00000051438
Gene: ENSMUSG00000023452

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 162 405 1.1e-71 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000071829
SMART Domains Protein: ENSMUSP00000071732
Gene: ENSMUSG00000023452

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 131 260 3.9e-35 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000071829
SMART Domains Protein: ENSMUSP00000071732
Gene: ENSMUSG00000023452

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 131 260 3.9e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119864
Predicted Effect probably null
Transcript: ENSMUST00000120591
SMART Domains Protein: ENSMUSP00000112573
Gene: ENSMUSG00000023452

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 131 374 1.1e-75 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120591
SMART Domains Protein: ENSMUSP00000112573
Gene: ENSMUSG00000023452

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 131 374 1.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138360
Predicted Effect probably null
Transcript: ENSMUST00000142779
SMART Domains Protein: ENSMUSP00000122705
Gene: ENSMUSG00000023452

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 153 270 1.7e-33 PFAM
Pfam:PS_Dcarbxylase 268 358 2.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142779
SMART Domains Protein: ENSMUSP00000122705
Gene: ENSMUSG00000023452

DomainStartEndE-ValueType
Pfam:PS_Dcarbxylase 153 270 1.7e-33 PFAM
Pfam:PS_Dcarbxylase 268 358 2.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142957
Predicted Effect probably null
Transcript: ENSMUST00000144673
SMART Domains Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574

DomainStartEndE-ValueType
Pfam:Tantalus 158 193 1.2e-15 PFAM
Pfam:PS_Dcarbxylase 332 575 2.1e-71 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000144673
SMART Domains Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574

DomainStartEndE-ValueType
Pfam:Tantalus 158 193 1.2e-15 PFAM
Pfam:PS_Dcarbxylase 332 575 2.1e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196545
Predicted Effect probably benign
Transcript: ENSMUST00000197787
Predicted Effect probably benign
Transcript: ENSMUST00000200390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202224
Predicted Effect probably benign
Transcript: ENSMUST00000202283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202641
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 catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a null mutation in this gene display embryogenesis defects such as abnormal trophoblast development, abnormal extraembronic tissue morphology and abnormal mitochondrial morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,683,342 T5024S probably benign Het
Adam23 C A 1: 63,557,446 N562K probably damaging Het
Brd9 G A 13: 73,955,511 M503I probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cyp2j8 A T 4: 96,470,476 probably benign Het
Erich6 T C 3: 58,621,271 I519M probably damaging Het
Fscn3 A G 6: 28,430,182 E117G possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm45234 A G 6: 124,745,004 probably benign Het
Ighv1-47 T A 12: 114,991,293 M56L probably benign Het
Klf4 A G 4: 55,530,949 L45P probably benign Het
Ksr1 A C 11: 79,044,839 probably null Het
L3mbtl3 T C 10: 26,330,245 N341S unknown Het
Mfsd12 T C 10: 81,365,788 probably benign Het
Nlrp9c A T 7: 26,375,422 probably benign Het
Ntrk2 T A 13: 58,846,851 C194S probably damaging Het
Olfm4 G A 14: 80,011,952 V170I possibly damaging Het
Olfr936 A C 9: 39,047,413 D46E unknown Het
Onecut1 C A 9: 74,889,533 Q445K possibly damaging Het
Pak6 A G 2: 118,689,864 Q112R probably damaging Het
Rapgef2 C T 3: 79,103,963 E124K probably damaging Het
Snx14 T C 9: 88,381,512 T893A probably benign Het
Spag17 T C 3: 99,940,074 probably benign Het
Tgds T C 14: 118,116,129 T259A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zc3h12a A G 4: 125,119,986 S362P probably benign Het
Zfyve16 A G 13: 92,504,498 I1246T probably damaging Het
Other mutations in Pisd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Pisd APN 5 32738412 missense probably benign 0.02
IGL00540:Pisd APN 5 32738412 missense probably benign 0.02
IGL00577:Pisd APN 5 32738412 missense probably benign 0.02
IGL00580:Pisd APN 5 32738412 missense probably benign 0.02
IGL00590:Pisd APN 5 32738412 missense probably benign 0.02
IGL00990:Pisd APN 5 32739358 missense probably benign 0.24
IGL01899:Pisd APN 5 32739132 splice site probably null
IGL01908:Pisd APN 5 32739132 splice site probably null
IGL01931:Pisd APN 5 32739132 splice site probably null
IGL01935:Pisd APN 5 32739132 splice site probably null
IGL01948:Pisd APN 5 32739132 splice site probably null
IGL01952:Pisd APN 5 32739132 splice site probably null
IGL02195:Pisd APN 5 32737315 missense probably damaging 1.00
shandong UTSW 5 32764796 missense possibly damaging 0.94
R0674:Pisd UTSW 5 32774437 missense probably benign 0.00
R0840:Pisd UTSW 5 32737312 missense probably damaging 1.00
R1976:Pisd UTSW 5 32738865 missense probably damaging 1.00
R1986:Pisd UTSW 5 32737328 missense probably damaging 1.00
R2044:Pisd UTSW 5 32764796 missense possibly damaging 0.94
R5705:Pisd UTSW 5 32737363 missense probably benign 0.14
R5756:Pisd UTSW 5 32738498 missense probably damaging 1.00
R6249:Pisd UTSW 5 32738844 missense probably damaging 1.00
R6389:Pisd UTSW 5 32764847 missense probably damaging 1.00
R6913:Pisd UTSW 5 32737429 missense probably damaging 1.00
R7143:Pisd UTSW 5 32738502 missense possibly damaging 0.73
R7571:Pisd UTSW 5 32737337 missense probably damaging 1.00
R7626:Pisd UTSW 5 32740688 missense probably benign 0.04
Posted On2015-04-16