Incidental Mutation 'IGL01935:Pisd'
ID279159
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 #IGL01935
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 noncoding transcript
Transcript: ENSMUST00000202641
Predicted Effect probably benign
Transcript: ENSMUST00000202283
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,637,657 probably benign Het
Akr1c12 A T 13: 4,272,245 V266E probably damaging Het
Arhgef1 A G 7: 24,921,882 T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 T801A probably benign Het
Card11 T A 5: 140,883,546 I832F possibly damaging Het
Catsperg1 T C 7: 29,195,871 probably null Het
Ccdc180 A G 4: 45,906,889 T455A possibly damaging Het
Cfhr1 T A 1: 139,551,002 Y210F probably benign Het
Chrna5 T C 9: 55,004,843 V309A probably benign Het
Clstn2 A G 9: 97,463,468 V609A probably damaging Het
D230025D16Rik T C 8: 105,240,001 F127L probably damaging Het
Dnah6 T C 6: 73,060,143 D3372G probably benign Het
Dtymk T C 1: 93,794,743 K113E probably benign Het
Eef2k T C 7: 120,885,831 F307S probably damaging Het
Flnc T A 6: 29,454,280 V1864E probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Herc2 A G 7: 56,153,793 Y2192C probably benign Het
Hkdc1 A T 10: 62,400,386 V459E probably damaging Het
Iqsec3 T C 6: 121,383,992 D969G probably damaging Het
Irf3 A G 7: 45,000,770 T237A probably benign Het
Jade2 G A 11: 51,828,384 T245I possibly damaging Het
Kctd8 A G 5: 69,340,364 I313T possibly damaging Het
Kdm5a T A 6: 120,408,323 S835R probably benign Het
Lama2 A C 10: 27,422,604 H165Q probably damaging Het
Lrp1b T A 2: 41,268,355 N1617Y probably damaging Het
Mcc C T 18: 44,519,516 probably null Het
Mfsd14b T A 13: 65,067,925 M405L probably benign Het
Myom3 T A 4: 135,788,381 F794I probably damaging Het
Napsa G T 7: 44,586,622 A362S probably benign Het
Ncf4 A T 15: 78,255,986 D195V probably damaging Het
Olfr738 T C 14: 50,413,555 F4L probably benign Het
Pank4 T G 4: 154,979,530 D659E probably damaging Het
Pcnx T A 12: 81,917,816 D252E probably benign Het
Pglyrp2 G A 17: 32,418,577 A159V probably benign Het
Ppfia4 A G 1: 134,317,936 S627P probably benign Het
Ppp1r15b T C 1: 133,132,023 F93L probably benign Het
Pramef12 C T 4: 144,392,602 probably benign Het
Qrfpr A T 3: 36,181,051 probably null Het
Rapgef4 C A 2: 72,234,123 T623K probably benign Het
Rapgef6 A G 11: 54,610,842 T184A possibly damaging Het
Ssrp1 T C 2: 85,046,712 *709Q probably null Het
St7 T G 6: 17,930,823 I442S probably damaging Het
Syne2 T A 12: 75,925,313 H992Q probably damaging Het
Syt14 T C 1: 192,933,371 R436G probably damaging Het
Tbc1d5 A G 17: 50,963,765 probably benign Het
Thsd7a T A 6: 12,317,419 N1630I probably damaging Het
Tinagl1 T C 4: 130,168,001 K180R probably damaging Het
Tmed7 T C 18: 46,597,123 T54A probably benign Het
Tmprss2 A T 16: 97,578,595 Y48* probably null Het
Tns2 C T 15: 102,111,634 probably null Het
Unc13d T C 11: 116,069,751 M496V probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zbtb39 A G 10: 127,742,366 T270A probably benign Het
Zfr T C 15: 12,180,712 S976P probably benign Het
Zscan29 A G 2: 121,170,057 F23S 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
IGL01928:Pisd APN 5 32739132 splice site probably null
IGL01931: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