Incidental Mutation 'IGL01952:Pisd'
ID 279200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pisd
Ensembl Gene ENSMUSG00000023452
Gene Name phosphatidylserine decarboxylase
Synonyms 9030221M09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01952
Quality Score
Status
Chromosome 5
Chromosomal Location 32893645-32942990 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to A at 32896476 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000200390] [ENSMUST00000197787] [ENSMUST00000202283]
AlphaFold Q8BSF4
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 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: ENSMUST00000200390
Predicted Effect probably benign
Transcript: ENSMUST00000197787
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astl T C 2: 127,184,398 (GRCm39) probably null Het
Bod1l C T 5: 41,974,297 (GRCm39) C2339Y possibly damaging Het
Celsr1 T A 15: 85,847,424 (GRCm39) I1438F probably benign Het
Dbr1 T A 9: 99,464,465 (GRCm39) N297K possibly damaging Het
Dmxl1 A G 18: 50,023,721 (GRCm39) H1668R probably benign Het
Dnai3 T C 3: 145,802,918 (GRCm39) H91R probably damaging Het
Dnajb11 A G 16: 22,684,250 (GRCm39) E91G probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Grin2d C A 7: 45,511,704 (GRCm39) R247L probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Hacl1 C T 14: 31,363,079 (GRCm39) probably benign Het
Hivep2 C A 10: 14,018,075 (GRCm39) T1854K possibly damaging Het
Htr1d T C 4: 136,170,872 (GRCm39) V367A probably benign Het
Ifi208 T C 1: 173,506,597 (GRCm39) S127P possibly damaging Het
Ifngr2 C T 16: 91,356,876 (GRCm39) P137S probably damaging Het
Lcn9 T C 2: 25,714,550 (GRCm39) L138P probably damaging Het
Mdn1 T C 4: 32,723,657 (GRCm39) V2531A possibly damaging Het
Meioc A T 11: 102,563,011 (GRCm39) I70F possibly damaging Het
Mideas G A 12: 84,220,040 (GRCm39) P305S probably benign Het
Mlph A C 1: 90,861,193 (GRCm39) D276A probably benign Het
Myh1 T A 11: 67,111,218 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,444 (GRCm39) S265N probably benign Het
Ofcc1 G A 13: 40,434,337 (GRCm39) A22V probably damaging Het
Or11j4 T A 14: 50,630,860 (GRCm39) F216I probably benign Het
Prlr A G 15: 10,328,428 (GRCm39) D301G possibly damaging Het
Ptk2 T C 15: 73,101,780 (GRCm39) E810G probably damaging Het
Slco1b2 T G 6: 141,616,956 (GRCm39) F430V probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Supt6 T C 11: 78,116,586 (GRCm39) K646R probably benign Het
Tmem260 C T 14: 48,709,933 (GRCm39) A52V probably damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Tulp1 G A 17: 28,575,398 (GRCm39) T103M probably damaging Het
Vwa5b1 G A 4: 138,308,528 (GRCm39) P770S probably benign Het
Zfp639 A G 3: 32,569,496 (GRCm39) Y18C probably damaging Het
Other mutations in Pisd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Pisd APN 5 32,895,756 (GRCm39) missense probably benign 0.02
IGL00540:Pisd APN 5 32,895,756 (GRCm39) missense probably benign 0.02
IGL00577:Pisd APN 5 32,895,756 (GRCm39) missense probably benign 0.02
IGL00580:Pisd APN 5 32,895,756 (GRCm39) missense probably benign 0.02
IGL00590:Pisd APN 5 32,895,756 (GRCm39) missense probably benign 0.02
IGL00990:Pisd APN 5 32,896,702 (GRCm39) missense probably benign 0.24
IGL01899:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01908:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01928:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01931:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01935:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL01948:Pisd APN 5 32,896,476 (GRCm39) splice site probably null
IGL02195:Pisd APN 5 32,894,659 (GRCm39) missense probably damaging 1.00
shandong UTSW 5 32,922,140 (GRCm39) missense possibly damaging 0.94
R0674:Pisd UTSW 5 32,931,781 (GRCm39) missense probably benign 0.00
R0840:Pisd UTSW 5 32,894,656 (GRCm39) missense probably damaging 1.00
R1976:Pisd UTSW 5 32,896,209 (GRCm39) missense probably damaging 1.00
R1986:Pisd UTSW 5 32,894,672 (GRCm39) missense probably damaging 1.00
R2044:Pisd UTSW 5 32,922,140 (GRCm39) missense possibly damaging 0.94
R5705:Pisd UTSW 5 32,894,707 (GRCm39) missense probably benign 0.14
R5756:Pisd UTSW 5 32,895,842 (GRCm39) missense probably damaging 1.00
R6249:Pisd UTSW 5 32,896,188 (GRCm39) missense probably damaging 1.00
R6389:Pisd UTSW 5 32,922,191 (GRCm39) missense probably damaging 1.00
R6913:Pisd UTSW 5 32,894,773 (GRCm39) missense probably damaging 1.00
R7143:Pisd UTSW 5 32,895,846 (GRCm39) missense possibly damaging 0.73
R7571:Pisd UTSW 5 32,894,681 (GRCm39) missense probably damaging 1.00
R7626:Pisd UTSW 5 32,898,032 (GRCm39) missense probably benign 0.04
R8903:Pisd UTSW 5 32,895,755 (GRCm39) missense probably benign 0.18
R9310:Pisd UTSW 5 32,894,784 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16