Mutagenetix > Incidental Mutation

Incidental Mutation 'R4775:Ptdss1'

367870

Institutional Source

Beutler Lab

Gene Symbol

Ptdss1

Ensembl Gene

ENSMUSG00000021518

Gene Name

phosphatidylserine synthase 1

Synonyms

PtdSer Synthase-1, PSS-1

MMRRC Submission

041991-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4775 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67080894-67146465 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 67135922 bp (GRCm39)

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

probably benign
Transcript: ENSMUST00000225347

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,134,165 (GRCm39)	Y426C	probably damaging	Het
Adam7	A	G	14: 68,745,361 (GRCm39)	I621T	probably benign	Het
Adamts1	A	T	16: 85,597,278 (GRCm39)	Y260*	probably null	Het
Adgrf1	C	T	17: 43,622,054 (GRCm39)	L764F	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Atp9b	A	G	18: 80,808,984 (GRCm39)		probably null	Het
C5ar2	A	C	7: 15,971,540 (GRCm39)	L129R	probably damaging	Het
Ccdc174	G	A	6: 91,867,875 (GRCm39)		probably null	Het
Cidec	T	C	6: 113,411,695 (GRCm39)	M1V	probably null	Het
Clec16a	G	T	16: 10,456,778 (GRCm39)	R663L	probably damaging	Het
Col25a1	T	C	3: 129,976,468 (GRCm39)	C118R	possibly damaging	Het
Cox6b2	A	G	7: 4,755,074 (GRCm39)	C67R	probably damaging	Het
Cspg4b	A	T	13: 113,454,229 (GRCm39)	I92F	possibly damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
Dapk1	T	A	13: 60,897,156 (GRCm39)	S792T	probably benign	Het
Dis3l	T	A	9: 64,238,190 (GRCm39)	N101Y	probably benign	Het
Dsg4	A	G	18: 20,604,184 (GRCm39)	T884A	possibly damaging	Het
Dvl1	T	C	4: 155,942,584 (GRCm39)	W617R	probably benign	Het
Eml5	A	G	12: 98,768,566 (GRCm39)	V1503A	probably benign	Het
Engase	A	T	11: 118,373,497 (GRCm39)	D280V	probably benign	Het
F11r	T	C	1: 171,289,209 (GRCm39)	S224P	probably damaging	Het
Fanca	A	G	8: 124,023,045 (GRCm39)	V564A	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gle1	T	C	2: 29,826,073 (GRCm39)	W51R	possibly damaging	Het
Gm94	A	G	18: 43,925,836 (GRCm39)		probably null	Het
Gm9830	A	T	9: 44,375,721 (GRCm39)		noncoding transcript	Het
Gpaa1	T	A	15: 76,218,891 (GRCm39)		probably null	Het
Grin1	C	T	2: 25,182,475 (GRCm39)	A929T	possibly damaging	Het
Grm7	T	A	6: 110,891,332 (GRCm39)	D188E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,970 (GRCm39)	F395L	probably benign	Het
Lipo3	C	A	19: 33,757,795 (GRCm39)	G225C	probably damaging	Het
Lonrf2	T	A	1: 38,857,140 (GRCm39)		probably null	Het
Marveld2	A	G	13: 100,753,303 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,305,777 (GRCm39)	L416P	probably damaging	Het
Mppe1	A	G	18: 67,359,930 (GRCm39)	L312P	possibly damaging	Het
Mpzl3	T	A	9: 44,977,730 (GRCm39)	S113T	probably damaging	Het
Mylk3	G	A	8: 86,085,689 (GRCm39)	Q149*	probably null	Het
Myt1	T	A	2: 181,464,470 (GRCm39)	I968N	probably damaging	Het
Ndc80	A	G	17: 71,821,265 (GRCm39)	Y228H	probably damaging	Het
Nelfcd	T	G	2: 174,268,369 (GRCm39)	C520G	probably damaging	Het
Nfrkb	C	A	9: 31,330,345 (GRCm39)	T1199K	possibly damaging	Het
Nipa2	A	G	7: 55,585,611 (GRCm39)	I109T	probably benign	Het
Nlrp4e	A	G	7: 23,042,525 (GRCm39)	T804A	probably benign	Het
Nsf	A	T	11: 103,763,419 (GRCm39)	I395K	possibly damaging	Het
Nt5c1b	G	A	12: 10,425,449 (GRCm39)	V331I	probably damaging	Het
Or13a28	A	T	7: 140,217,829 (GRCm39)	I72F	probably damaging	Het
Or1e29	A	G	11: 73,667,377 (GRCm39)	Y259H	probably damaging	Het
Pask	T	C	1: 93,265,246 (GRCm39)	D3G	probably damaging	Het
Pglyrp3	T	C	3: 91,933,037 (GRCm39)	V110A	possibly damaging	Het
Ppp4r3a	C	T	12: 101,019,825 (GRCm39)	V377M	probably damaging	Het
Prr12	A	G	7: 44,700,749 (GRCm39)		probably benign	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rph3a	T	A	5: 121,092,551 (GRCm39)	Y350F	probably benign	Het
Skint4	A	T	4: 111,993,261 (GRCm39)	H328L	probably damaging	Het
Smyd4	G	A	11: 75,282,018 (GRCm39)	C497Y	probably damaging	Het
Stk11ip	T	C	1: 75,510,497 (GRCm39)	W864R	possibly damaging	Het
Stkld1	T	A	2: 26,841,757 (GRCm39)	V543E	probably damaging	Het
Taok2	A	G	7: 126,469,940 (GRCm39)	S963P	probably damaging	Het
Tars2	A	G	3: 95,653,959 (GRCm39)	L354P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn2	A	G	7: 144,821,079 (GRCm39)	L325P	probably damaging	Het
Trappc3l	C	G	10: 33,974,807 (GRCm39)	H96Q	probably benign	Het
Trim66	A	T	7: 109,056,796 (GRCm39)	Y1120*	probably null	Het
Trio	G	A	15: 27,881,428 (GRCm39)	Q548*	probably null	Het
Wipf2	T	A	11: 98,781,558 (GRCm39)	D32E	probably benign	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
R0591:Ptdss1	UTSW	13	67,120,714 (GRCm39)	splice site	probably benign
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
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'- CCCGTGTTTGGAGCAGAATTC -3'
(R):5'- CACATTGCAGATACTGTAAGGCTG -3'

Sequencing Primer
(F):5'- CAGCCATTGAATGTTTCTGACTATGG -3'
(R):5'- GCAGATACTGTAAGGCTGTTTTATTC -3'

Posted On

2015-12-29