Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Ptdss1'

488836

Institutional Source

Beutler Lab

Gene Symbol

Ptdss1

Ensembl Gene

ENSMUSG00000021518

Gene Name

phosphatidylserine synthase 1

Synonyms

PSS-1, PtdSer Synthase-1

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66932830-66998401 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 66972637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021990 (fasta)

Gene Model

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

AlphaFold

Q99LH2

Predicted Effect

probably null
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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942		probably null	Het
4930402H24Rik	T	C	2: 130,778,473	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904	G602*	probably null	Het
Ep400	A	T	5: 110,756,703	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381	S525N	unknown	Het
Nasp	G	A	4: 116,611,077	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pde10a	T	C	17: 8,929,117	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433		probably benign	Het
Ppm1j	G	A	3: 104,781,379	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467	C154Y	probably damaging	Het
Rapgef1	A	G	2: 29,736,666	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246		probably null	Het
Slc15a3	C	T	19: 10,857,251	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294		probably benign	Het
Syne1	T	C	10: 5,052,750	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563		probably null	Het
Tbc1d24	C	A	17: 24,208,229	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574	K156R	probably damaging	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
IGL03114:Ptdss1	APN	13	66993994	nonsense	probably null
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
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
R8767:Ptdss1	UTSW	13	66953544	missense	probably benign	0.01
RF044:Ptdss1	UTSW	13	66945348	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TCATCAGTGCAGTGTTCCC -3'
(R):5'- GTAACTCAGAGGCTCAAATTTTCAG -3'

Sequencing Primer
(F):5'- ATCAGTGCAGTGTTCCCTTTTC -3'
(R):5'- CAGATTTTTCCACATTGAAGCAGCTC -3'

Posted On

2017-10-10