Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01948:Pisd'

279185

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 #

IGL01948

Quality Score

Status

Chromosome

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

Domain	Start	End	E-Value	Type
Pfam:PS_Dcarbxylase	162	405	1.1e-71	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000061895

SMART Domains

Protein: ENSMUSP00000051438
Gene: ENSMUSG00000023452

Domain	Start	End	E-Value	Type
Pfam:PS_Dcarbxylase	162	405	1.1e-71	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000071829

SMART Domains

Protein: ENSMUSP00000071732
Gene: ENSMUSG00000023452

Domain	Start	End	E-Value	Type
Pfam:PS_Dcarbxylase	131	260	3.9e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000071829

SMART Domains

Protein: ENSMUSP00000071732
Gene: ENSMUSG00000023452

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:PS_Dcarbxylase	131	374	1.1e-75	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120591

SMART Domains

Protein: ENSMUSP00000112573
Gene: ENSMUSG00000023452

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	C	5: 3,627,326 (GRCm39)	F101L	probably damaging	Het
Cacna1d	T	C	14: 29,846,751 (GRCm39)	T552A	probably damaging	Het
Ccdc81	T	C	7: 89,525,063 (GRCm39)	D506G	possibly damaging	Het
Fam186b	T	C	15: 99,178,327 (GRCm39)	H333R	probably benign	Het
Fam222b	T	C	11: 78,045,165 (GRCm39)	V242A	probably damaging	Het
Gabra2	A	G	5: 71,119,228 (GRCm39)	F425L	probably damaging	Het
Gm10717	A	T	9: 3,025,819 (GRCm39)	T135S	probably damaging	Het
Gm8104	A	T	14: 42,966,607 (GRCm39)	M120L	probably benign	Het
Gsdmc	T	C	15: 63,650,430 (GRCm39)	D308G	probably damaging	Het
Hook3	T	A	8: 26,549,340 (GRCm39)	E168V	possibly damaging	Het
Ighv5-17	T	A	12: 113,823,046 (GRCm39)	E25V	probably damaging	Het
Imp4	T	G	1: 34,483,356 (GRCm39)		probably benign	Het
Ms4a5	A	C	19: 11,256,717 (GRCm39)	M60R	probably damaging	Het
Prokr2	G	T	2: 132,215,603 (GRCm39)	A286E	probably damaging	Het
Ranbp9	T	A	13: 43,576,029 (GRCm39)	Q226L	probably damaging	Het
Scara3	A	G	14: 66,168,261 (GRCm39)	V452A	probably damaging	Het
Tmem38b	C	T	4: 53,850,530 (GRCm39)	P171S	probably damaging	Het
Zdhhc17	G	T	10: 110,782,137 (GRCm39)	T519K	possibly damaging	Het

Other mutations in Pisd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01952: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