Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00580:Pisd'

277806

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 #

IGL00580

Quality Score

Status

Chromosome

Chromosomal Location

32893645-32942990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32895756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 441 (I441V)

Ref Sequence

ENSEMBL: ENSMUSP00000124923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061895] [ENSMUST00000071829] [ENSMUST00000120591] [ENSMUST00000135248] [ENSMUST00000144673] [ENSMUST00000197787] [ENSMUST00000142957] [ENSMUST00000202283] [ENSMUST00000200390]

AlphaFold

Q8BSF4

Predicted Effect

probably benign
Transcript: ENSMUST00000061895
AA Change: I271V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051438
Gene: ENSMUSG00000023452
AA Change: I271V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071829
AA Change: I240V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071732
Gene: ENSMUSG00000023452
AA Change: I240V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119864

Predicted Effect

probably benign
Transcript: ENSMUST00000120591
AA Change: I240V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112573
Gene: ENSMUSG00000023452
AA Change: I240V

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

unknown
Transcript: ENSMUST00000142779
AA Change: I261V

SMART Domains

Protein: ENSMUSP00000122705
Gene: ENSMUSG00000023452
AA Change: I261V

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: ENSMUST00000144673
AA Change: I441V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574
AA Change: I441V

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: ENSMUST00000202224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201314

Predicted Effect

probably benign
Transcript: ENSMUST00000197787

Predicted Effect

probably benign
Transcript: ENSMUST00000142957

Predicted Effect

probably benign
Transcript: ENSMUST00000202283

Predicted Effect

probably benign
Transcript: ENSMUST00000200390

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,508,845 (GRCm39)	Y406F	probably benign	Het
Catsperb	T	A	12: 101,557,788 (GRCm39)	N786K	probably benign	Het
Clcnka	C	T	4: 141,118,712 (GRCm39)	W391*	probably null	Het
Col12a1	A	T	9: 79,599,508 (GRCm39)	S882T	probably benign	Het
Cyp2j12	A	G	4: 95,994,826 (GRCm39)		probably benign	Het
Cyp4f17	C	A	17: 32,743,849 (GRCm39)	Y342*	probably null	Het
Fancg	A	T	4: 43,003,910 (GRCm39)	C506*	probably null	Het
Grid2	A	T	6: 64,322,573 (GRCm39)	L524F	probably damaging	Het
Haao	C	T	17: 84,142,359 (GRCm39)		probably benign	Het
Il17re	A	G	6: 113,446,560 (GRCm39)	D256G	probably damaging	Het
Irf4	T	A	13: 30,935,767 (GRCm39)	F107L	probably damaging	Het
Kcnu1	A	T	8: 26,355,691 (GRCm39)	I232F	probably benign	Het
Kmt2b	T	A	7: 30,285,938 (GRCm39)		probably benign	Het
Maoa	T	C	X: 16,547,085 (GRCm39)	V380A	probably benign	Het
Pi4ka	T	C	16: 17,126,008 (GRCm39)	T1121A	probably benign	Het
Pkhd1l1	A	G	15: 44,449,870 (GRCm39)	T3878A	probably damaging	Het
Plcb2	G	A	2: 118,549,370 (GRCm39)	R331W	probably damaging	Het
Prrc2c	G	A	1: 162,525,685 (GRCm39)	P307L	unknown	Het
Psen1	C	T	12: 83,777,343 (GRCm39)	S329F	probably benign	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Serpinb9	A	G	13: 33,190,673 (GRCm39)	T50A	probably damaging	Het
Tnrc6a	T	A	7: 122,773,501 (GRCm39)	S1148T	probably damaging	Het
Zfp599	G	T	9: 22,160,768 (GRCm39)	Q466K	possibly damaging	Het
Zfp964	A	G	8: 70,112,043 (GRCm39)		probably null	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
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
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