Mutagenetix > Incidental Mutation

Incidental Mutation 'R7016:Ptdss1'

545334

Institutional Source

Beutler Lab

Gene Symbol

Ptdss1

Ensembl Gene

ENSMUSG00000021518

Gene Name

phosphatidylserine synthase 1

Synonyms

PtdSer Synthase-1, PSS-1

MMRRC Submission

045117-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67080894-67146465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67120685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 294 (M294L)

Ref Sequence

ENSEMBL: ENSMUSP00000021990 (fasta)

Gene Model

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

AlphaFold

Q99LH2

Predicted Effect

probably benign
Transcript: ENSMUST00000021990
AA Change: M294L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518
AA Change: M294L

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (63/64)

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
Abcb4	T	A	5: 8,986,843 (GRCm39)	V754D	probably benign	Het
Actn1	T	A	12: 80,219,742 (GRCm39)	M710L	possibly damaging	Het
Adam1a	A	G	5: 121,659,101 (GRCm39)	F64S	probably benign	Het
Aip	G	T	19: 4,171,402 (GRCm39)	D11E	probably benign	Het
Ak7	T	A	12: 105,747,938 (GRCm39)	Y714*	probably null	Het
Amhr2	A	G	15: 102,362,799 (GRCm39)	E522G	possibly damaging	Het
Amotl1	A	G	9: 14,504,995 (GRCm39)	L108P	probably damaging	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Asph	T	C	4: 9,630,604 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,895,185 (GRCm39)	S908P	probably benign	Het
Atp13a3	C	A	16: 30,157,308 (GRCm39)	V903L	possibly damaging	Het
Bcam	G	A	7: 19,492,368 (GRCm39)	R576*	probably null	Het
Btbd2	A	G	10: 80,484,449 (GRCm39)	S141P	probably damaging	Het
Cacna1b	T	C	2: 24,652,860 (GRCm39)	N67S	possibly damaging	Het
Cc2d2b	A	G	19: 40,784,248 (GRCm39)	T872A	possibly damaging	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Cep44	A	T	8: 56,997,234 (GRCm39)	F101L	possibly damaging	Het
Cfap410	T	A	10: 77,818,790 (GRCm39)	C154S	probably benign	Het
Cimap1d	T	C	10: 79,475,790 (GRCm39)	Y258C	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc21	G	T	15: 10,461,493 (GRCm39)	Y152*	probably null	Het
Edem2	A	G	2: 155,557,992 (GRCm39)	F214L	possibly damaging	Het
Fam118b	G	A	9: 35,135,014 (GRCm39)	R198W	probably damaging	Het
Fgb	A	G	3: 82,953,371 (GRCm39)	V133A	probably benign	Het
Fsip2	A	G	2: 82,820,979 (GRCm39)	T5571A	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hnf4a	T	A	2: 163,406,193 (GRCm39)	Y277N	probably damaging	Het
Htatip2	A	G	7: 49,420,583 (GRCm39)	D143G	possibly damaging	Het
Itgae	A	G	11: 73,010,342 (GRCm39)	N611D	probably damaging	Het
Ksr1	A	T	11: 78,918,362 (GRCm39)	N515K	probably damaging	Het
Lrp1	C	A	10: 127,395,836 (GRCm39)		probably null	Het
Map3k20	T	A	2: 72,208,979 (GRCm39)	V195D	probably damaging	Het
Meox2	A	G	12: 37,159,223 (GRCm39)	S132G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nell2	T	A	15: 95,127,032 (GRCm39)	N781I	possibly damaging	Het
Or12d16-ps1	G	A	17: 37,706,094 (GRCm39)	G221D	possibly damaging	Het
Or13a22	A	G	7: 140,073,153 (GRCm39)	T201A	probably benign	Het
Or51m1	A	G	7: 103,578,737 (GRCm39)	I236V	probably benign	Het
Or5e1	A	G	7: 108,354,918 (GRCm39)	N285S	probably damaging	Het
Otoa	A	T	7: 120,746,989 (GRCm39)	Q918L	probably damaging	Het
Palld	T	G	8: 61,969,032 (GRCm39)	K1022T	probably damaging	Het
Parp8	A	T	13: 117,031,627 (GRCm39)	S362T	probably damaging	Het
Phrf1	A	G	7: 140,817,476 (GRCm39)	E95G	probably damaging	Het
Pls1	A	T	9: 95,668,994 (GRCm39)	F76I	probably damaging	Het
Pnp	T	A	14: 51,187,706 (GRCm39)		probably null	Het
Rictor	T	A	15: 6,804,361 (GRCm39)		probably null	Het
Rilp	A	G	11: 75,401,745 (GRCm39)	E175G	probably damaging	Het
Serpina16	T	A	12: 103,641,630 (GRCm39)	T32S	probably benign	Het
Sim1	C	T	10: 50,860,346 (GRCm39)	S736L	probably benign	Het
Smarcc2	T	G	10: 128,321,198 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,480,368 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,426,098 (GRCm39)	W98R	probably damaging	Het
St8sia3	A	T	18: 64,402,654 (GRCm39)	I98F	probably benign	Het
Taf10	A	T	7: 105,393,205 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,626,857 (GRCm39)	V1031E	possibly damaging	Het
Tbc1d4	T	A	14: 101,724,877 (GRCm39)	N580I	probably damaging	Het
Trim12c	A	T	7: 103,997,413 (GRCm39)	C48S		Het
Tsc22d1	C	A	14: 76,654,982 (GRCm39)	T405K	probably damaging	Het
Tubgcp5	A	G	7: 55,443,977 (GRCm39)	D2G	possibly damaging	Het
Wwc2	T	C	8: 48,300,583 (GRCm39)	E960G	unknown	Het
Yme1l1	T	A	2: 23,076,367 (GRCm39)		probably null	Het
Zbtb2	G	C	10: 4,318,646 (GRCm39)	P460R	probably damaging	Het
Zfp62	T	G	11: 49,106,764 (GRCm39)	I285S	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
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
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
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'- CCTGTTCTGCACTTGCTAGAAC -3'
(R):5'- ACATTGAAGCAGCTCCTCGG -3'

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

Posted On

2019-05-13