Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03114:Ptdss1'

419306

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptdss1

Ensembl Gene

ENSMUSG00000021518

Gene Name

phosphatidylserine synthase 1

Synonyms

PSS-1, PtdSer Synthase-1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03114

Quality Score

Status

Chromosome

Chromosomal Location

66932830-66998401 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 66993994 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 405 (Y405*)

Ref Sequence

ENSEMBL: ENSMUSP00000021990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021990] [ENSMUST00000224244]

Predicted Effect

probably null
Transcript: ENSMUST00000021990
AA Change: Y405*

SMART Domains

Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518
AA Change: Y405*

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	72	89	N/A	INTRINSIC
Pfam:PSS	96	372	1.3e-108	PFAM
transmembrane domain	383	405	N/A	INTRINSIC
low complexity region	442	464	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224175

Predicted Effect

probably benign
Transcript: ENSMUST00000224244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224483

Predicted Effect

probably benign
Transcript: ENSMUST00000225347

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 formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased phosphatidylethanolamine and phosphatidylserine levels in the liver but normal axon growth and life span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,717,132	S1654T	probably benign	Het
Abca13	T	A	11: 9,528,999	H4282Q	probably benign	Het
Acta2	A	G	19: 34,244,910		probably null	Het
Arl10	A	G	13: 54,575,766		probably benign	Het
Avpr1a	A	G	10: 122,449,718	Y305C	probably damaging	Het
Bmpr2	T	A	1: 59,867,444	N565K	probably damaging	Het
Boc	A	T	16: 44,486,752	S1035R	probably benign	Het
Ccdc7a	T	C	8: 129,026,689	N187S	possibly damaging	Het
Cntn5	C	T	9: 9,748,452	E680K	probably damaging	Het
Copa	T	A	1: 172,119,268	Y1014*	probably null	Het
Csmd3	A	G	15: 47,820,451	S1662P	probably damaging	Het
Cyp2e1	T	C	7: 140,773,129	F360L	possibly damaging	Het
Efnb3	A	T	11: 69,556,802		probably benign	Het
Egf	A	T	3: 129,736,880	L211Q	probably damaging	Het
Eno1	G	A	4: 150,241,126	R56H	probably benign	Het
Fyb2	A	G	4: 104,995,778	T552A	probably damaging	Het
Git2	G	A	5: 114,733,857		probably benign	Het
Gm5538	A	T	3: 59,743,723	I89F	possibly damaging	Het
Gm5771	T	A	6: 41,397,078	C205S	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,910		probably null	Het
Hyal4	A	T	6: 24,755,965	I61L	probably benign	Het
Kat14	T	C	2: 144,375,965		probably null	Het
Kif13b	T	C	14: 64,788,448	V1418A	probably benign	Het
Lcn12	T	C	2: 25,493,262	K35E	probably benign	Het
Lyrm7	G	T	11: 54,850,372	N45K	possibly damaging	Het
Micalcl	G	T	7: 112,397,557	G559V	probably damaging	Het
Mtrr	A	T	13: 68,564,322	C648*	probably null	Het
Muc5b	C	A	7: 141,858,819	S1834*	probably null	Het
Mup16	G	A	4: 61,518,013	T101M	probably benign	Het
Myof	A	T	19: 37,903,861	L1148Q	probably damaging	Het
Nags	A	T	11: 102,148,988	I501F	probably damaging	Het
Nbeal1	A	T	1: 60,278,727	Y672F	probably damaging	Het
Ncapg2	A	G	12: 116,452,373		probably benign	Het
Obscn	A	G	11: 59,000,539	S7056P	unknown	Het
Olfr593	T	C	7: 103,212,721	I287T	probably damaging	Het
Pde2a	C	A	7: 101,508,683		probably benign	Het
Piezo2	T	C	18: 63,030,272		probably null	Het
Pkhd1	C	A	1: 20,198,171	D3328Y	probably damaging	Het
Plxdc2	T	C	2: 16,650,124	V178A	probably damaging	Het
Prdx3	T	C	19: 60,873,118		probably benign	Het
Prkce	T	A	17: 86,654,555	D694E	probably damaging	Het
Rad54l	A	T	4: 116,098,532	W608R	probably damaging	Het
Rassf6	G	T	5: 90,608,790		probably benign	Het
Sema5a	A	T	15: 32,673,427	I804F	probably damaging	Het
Slc15a2	A	T	16: 36,751,905	I668N	probably damaging	Het
Thsd7b	A	G	1: 130,188,551	E1347G	probably benign	Het
Tmco3	T	C	8: 13,298,205		probably benign	Het
Ttn	T	C	2: 76,721,652	M31214V	probably null	Het
Uck1	G	A	2: 32,258,322	R161C	probably benign	Het
Ugt2b5	T	C	5: 87,128,350	Y355C	probably damaging	Het
Usp48	C	A	4: 137,656,125	T1031K	probably damaging	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	Het
Vmn1r202	T	A	13: 22,501,330		probably benign	Het
Vmn2r90	T	C	17: 17,733,509	I645T	probably damaging	Het
Vps18	T	C	2: 119,293,651	V353A	possibly damaging	Het
Vwf	C	T	6: 125,599,363	Q469*	probably null	Het

Other mutations in Ptdss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01825:Ptdss1	APN	13	66987822	missense	probably benign	0.02
IGL02798:Ptdss1	APN	13	66976760	missense	probably damaging	1.00
BB009:Ptdss1	UTSW	13	66966432	missense	probably damaging	1.00
BB019:Ptdss1	UTSW	13	66966432	missense	probably damaging	1.00
R0344:Ptdss1	UTSW	13	66933572	missense	probably damaging	1.00
R0591:Ptdss1	UTSW	13	66972650	splice site	probably benign
R0749:Ptdss1	UTSW	13	66987850	nonsense	probably null
R0759:Ptdss1	UTSW	13	66987804	missense	probably damaging	1.00
R1140:Ptdss1	UTSW	13	66963356	missense	probably benign	0.00
R1500:Ptdss1	UTSW	13	66995408	missense	probably benign	0.04
R1676:Ptdss1	UTSW	13	66933637	missense	probably damaging	1.00
R1761:Ptdss1	UTSW	13	66956412	missense	possibly damaging	0.72
R2086:Ptdss1	UTSW	13	66953555	missense	probably benign	0.00
R2087:Ptdss1	UTSW	13	66976817	splice site	probably benign
R3962:Ptdss1	UTSW	13	66994011	missense	probably benign	0.00
R4662:Ptdss1	UTSW	13	66933611	missense	possibly damaging	0.95
R4707:Ptdss1	UTSW	13	66995418	critical splice donor site	probably null
R4775:Ptdss1	UTSW	13	66987858	splice site	probably null
R4993:Ptdss1	UTSW	13	66945288	missense	probably benign	0.01
R5402:Ptdss1	UTSW	13	66933599	missense	possibly damaging	0.88
R5463:Ptdss1	UTSW	13	66945301	missense	probably damaging	1.00
R5643:Ptdss1	UTSW	13	66972540	missense	probably damaging	1.00
R5644:Ptdss1	UTSW	13	66972540	missense	probably damaging	1.00
R6043:Ptdss1	UTSW	13	66963369	missense	probably damaging	1.00
R6145:Ptdss1	UTSW	13	66972637	critical splice donor site	probably null
R6726:Ptdss1	UTSW	13	66953531	nonsense	probably null
R7016:Ptdss1	UTSW	13	66972621	missense	probably benign	0.00
R7116:Ptdss1	UTSW	13	66945327	missense	probably benign	0.00
R7339:Ptdss1	UTSW	13	66963362	missense	possibly damaging	0.78
R7836:Ptdss1	UTSW	13	66933655	missense	probably benign
R7932:Ptdss1	UTSW	13	66966432	missense	probably damaging	1.00
R7939:Ptdss1	UTSW	13	66995347	missense	probably benign
R8015:Ptdss1	UTSW	13	66963343	missense	possibly damaging	0.87
R8237:Ptdss1	UTSW	13	66976777	missense	probably damaging	1.00
RF044:Ptdss1	UTSW	13	66945348	missense	possibly damaging	0.47

Posted On

2016-08-02