Mutagenetix > Incidental Mutation

Incidental Mutation 'R0591:Ptdss1'

55999

Institutional Source

Beutler Lab

Gene Symbol

Ptdss1

Ensembl Gene

ENSMUSG00000021518

Gene Name

phosphatidylserine synthase 1

Synonyms

PtdSer Synthase-1, PSS-1

MMRRC Submission

038781-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67080894-67146465 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 67120714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q99LH2

Predicted Effect

probably benign
Transcript: ENSMUST00000021990

SMART Domains

Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518

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

probably benign
Transcript: ENSMUST00000224244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225024

Predicted Effect

probably benign
Transcript: ENSMUST00000225347

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.7%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,774,704 (GRCm39)	E1298*	probably null	Het
Aadacl2fm2	C	A	3: 59,659,550 (GRCm39)	Y334*	probably null	Het
Adam19	T	C	11: 46,012,238 (GRCm39)		probably benign	Het
Agt	A	T	8: 125,283,678 (GRCm39)	S480R	possibly damaging	Het
Anapc1	G	T	2: 128,461,252 (GRCm39)	D1769E	probably benign	Het
Aox4	T	C	1: 58,278,261 (GRCm39)		probably benign	Het
Apol9b	G	A	15: 77,619,830 (GRCm39)	V209I	possibly damaging	Het
Appl2	A	T	10: 83,460,509 (GRCm39)	I116K	possibly damaging	Het
BC051665	A	G	13: 60,932,422 (GRCm39)		probably benign	Het
Cactin	G	T	10: 81,159,837 (GRCm39)	E89*	probably null	Het
Carf	G	T	1: 60,165,073 (GRCm39)		probably benign	Het
Ccdc167	A	G	17: 29,924,235 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,885,808 (GRCm39)		probably null	Het
Clca4b	T	A	3: 144,621,353 (GRCm39)	K574*	probably null	Het
Crabp1	T	A	9: 54,672,887 (GRCm39)	I64N	probably damaging	Het
Dgkd	T	A	1: 87,842,826 (GRCm39)	I118N	probably damaging	Het
Dglucy	T	C	12: 100,825,777 (GRCm39)		probably benign	Het
Dock10	C	T	1: 80,518,936 (GRCm39)		probably benign	Het
Ednrb	A	T	14: 104,060,710 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,279,973 (GRCm39)		probably benign	Het
Golga3	A	C	5: 110,336,609 (GRCm39)	Q416P	probably damaging	Het
Gpr12	A	G	5: 146,520,445 (GRCm39)	V159A	probably benign	Het
Heatr5a	A	T	12: 51,956,884 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,873,909 (GRCm39)	I2195T	probably damaging	Het
Hikeshi	A	T	7: 89,569,295 (GRCm39)	N76K	possibly damaging	Het
Hsd11b1	T	C	1: 192,911,984 (GRCm39)		probably benign	Het
Iftap	A	T	2: 101,406,462 (GRCm39)	D155E	probably benign	Het
Inhba	A	T	13: 16,201,405 (GRCm39)	K322N	probably damaging	Het
Katnal1	A	T	5: 148,829,326 (GRCm39)	F291L	probably damaging	Het
Kcnj9	T	C	1: 172,150,665 (GRCm39)	E316G	probably damaging	Het
Lrsam1	A	G	2: 32,823,935 (GRCm39)		probably benign	Het
Mcf2l	T	G	8: 13,068,751 (GRCm39)	S1075A	probably benign	Het
Mios	T	C	6: 8,215,470 (GRCm39)	V222A	possibly damaging	Het
Mycbp2	A	T	14: 103,433,827 (GRCm39)		probably benign	Het
Nars1	A	T	18: 64,633,638 (GRCm39)	I544N	probably damaging	Het
Or5ak23	A	G	2: 85,245,034 (GRCm39)	L63P	possibly damaging	Het
Pbrm1	A	G	14: 30,768,387 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,796,932 (GRCm39)		probably benign	Het
Pnliprp1	A	G	19: 58,723,138 (GRCm39)	D213G	probably damaging	Het
Psap	A	G	10: 60,136,634 (GRCm39)	N538D	possibly damaging	Het
Rap1b	G	A	10: 117,654,522 (GRCm39)		probably benign	Het
Rhcg	T	A	7: 79,244,520 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,804,220 (GRCm39)	T550I	possibly damaging	Het
Samm50	G	A	15: 84,095,369 (GRCm39)	G452R	probably benign	Het
Scin	A	G	12: 40,130,929 (GRCm39)		probably null	Het
Sesn3	T	C	9: 14,219,854 (GRCm39)	L81S	probably damaging	Het
Skint6	A	C	4: 112,715,366 (GRCm39)		probably benign	Het
Slc30a4	A	T	2: 122,527,160 (GRCm39)	L411H	probably damaging	Het
Slc44a5	C	T	3: 153,939,782 (GRCm39)		probably benign	Het
Slc4a3	C	T	1: 75,525,665 (GRCm39)	A255V	probably damaging	Het
Slc9b1	A	G	3: 135,088,593 (GRCm39)	N318S	possibly damaging	Het
Tcp11l2	A	T	10: 84,440,458 (GRCm39)	H287L	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnks2	T	A	19: 36,849,962 (GRCm39)	Y605N	probably damaging	Het
Topbp1	T	A	9: 103,227,037 (GRCm39)	N1490K	probably benign	Het
Ube4b	T	G	4: 149,442,034 (GRCm39)		probably benign	Het
Usp4	G	A	9: 108,225,228 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn1r184	A	T	7: 25,966,500 (GRCm39)	D82V	probably damaging	Het

Other mutations in Ptdss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01825:Ptdss1	APN	13	67,135,886 (GRCm39)	missense	probably benign	0.02
IGL02798:Ptdss1	APN	13	67,124,824 (GRCm39)	missense	probably damaging	1.00
IGL03114:Ptdss1	APN	13	67,142,058 (GRCm39)	nonsense	probably null
BB009:Ptdss1	UTSW	13	67,114,496 (GRCm39)	missense	probably damaging	1.00
BB019:Ptdss1	UTSW	13	67,114,496 (GRCm39)	missense	probably damaging	1.00
R0344:Ptdss1	UTSW	13	67,081,636 (GRCm39)	missense	probably damaging	1.00
R0749:Ptdss1	UTSW	13	67,135,914 (GRCm39)	nonsense	probably null
R0759:Ptdss1	UTSW	13	67,135,868 (GRCm39)	missense	probably damaging	1.00
R1140:Ptdss1	UTSW	13	67,111,420 (GRCm39)	missense	probably benign	0.00
R1500:Ptdss1	UTSW	13	67,143,472 (GRCm39)	missense	probably benign	0.04
R1676:Ptdss1	UTSW	13	67,081,701 (GRCm39)	missense	probably damaging	1.00
R1761:Ptdss1	UTSW	13	67,104,476 (GRCm39)	missense	possibly damaging	0.72
R2086:Ptdss1	UTSW	13	67,101,619 (GRCm39)	missense	probably benign	0.00
R2087:Ptdss1	UTSW	13	67,124,881 (GRCm39)	splice site	probably benign
R3962:Ptdss1	UTSW	13	67,142,075 (GRCm39)	missense	probably benign	0.00
R4662:Ptdss1	UTSW	13	67,081,675 (GRCm39)	missense	possibly damaging	0.95
R4707:Ptdss1	UTSW	13	67,143,482 (GRCm39)	critical splice donor site	probably null
R4775:Ptdss1	UTSW	13	67,135,922 (GRCm39)	splice site	probably null
R4993:Ptdss1	UTSW	13	67,093,352 (GRCm39)	missense	probably benign	0.01
R5402:Ptdss1	UTSW	13	67,081,663 (GRCm39)	missense	possibly damaging	0.88
R5463:Ptdss1	UTSW	13	67,093,365 (GRCm39)	missense	probably damaging	1.00
R5643:Ptdss1	UTSW	13	67,120,604 (GRCm39)	missense	probably damaging	1.00
R5644:Ptdss1	UTSW	13	67,120,604 (GRCm39)	missense	probably damaging	1.00
R6043:Ptdss1	UTSW	13	67,111,433 (GRCm39)	missense	probably damaging	1.00
R6145:Ptdss1	UTSW	13	67,120,701 (GRCm39)	critical splice donor site	probably null
R6726:Ptdss1	UTSW	13	67,101,595 (GRCm39)	nonsense	probably null
R7016:Ptdss1	UTSW	13	67,120,685 (GRCm39)	missense	probably benign	0.00
R7116:Ptdss1	UTSW	13	67,093,391 (GRCm39)	missense	probably benign	0.00
R7339:Ptdss1	UTSW	13	67,111,426 (GRCm39)	missense	possibly damaging	0.78
R7836:Ptdss1	UTSW	13	67,081,719 (GRCm39)	missense	probably benign
R7932:Ptdss1	UTSW	13	67,114,496 (GRCm39)	missense	probably damaging	1.00
R7939:Ptdss1	UTSW	13	67,143,411 (GRCm39)	missense	probably benign
R8015:Ptdss1	UTSW	13	67,111,407 (GRCm39)	missense	possibly damaging	0.87
R8237:Ptdss1	UTSW	13	67,124,841 (GRCm39)	missense	probably damaging	1.00
R8767:Ptdss1	UTSW	13	67,101,608 (GRCm39)	missense	probably benign	0.01
RF044:Ptdss1	UTSW	13	67,093,412 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- AGGGCTTTGTCCTGTTCTGCAC -3'
(R):5'- TCCACATTGAAGCAGCTCCTCG -3'

Sequencing Primer
(F):5'- GAACATCATCAGTGCAGTGTTCC -3'
(R):5'- GGACAGAATAAGCTCCCTTACTG -3'

Posted On

2013-07-11