Mutagenetix > Incidental Mutation

Incidental Mutation 'BB019:Ptdss1'

643089

Institutional Source

Beutler Lab

Gene Symbol

Ptdss1

Ensembl Gene

ENSMUSG00000021518

Gene Name

phosphatidylserine synthase 1

Synonyms

PtdSer Synthase-1, PSS-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

BB019

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67080894-67146465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67114496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 215 (W215R)

Ref Sequence

ENSEMBL: ENSMUSP00000021990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021990] [ENSMUST00000224244] [ENSMUST00000224290]

AlphaFold

Q99LH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021990
AA Change: W215R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518
AA Change: W215R

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: ENSMUST00000224290

Predicted Effect

probably benign
Transcript: ENSMUST00000225347

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,415,100 (GRCm39)	R666G	unknown	Het
Adam21	T	A	12: 81,606,938 (GRCm39)	N275Y	probably damaging	Het
Arhgap24	A	T	5: 102,993,835 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,135 (GRCm39)	L459F	probably damaging	Het
Bbx	A	T	16: 50,030,806 (GRCm39)		probably null	Het
Blk	C	T	14: 63,611,008 (GRCm39)	G445S	possibly damaging	Het
Brca1	T	C	11: 101,430,843 (GRCm39)	E33G	possibly damaging	Het
Cacna1s	T	G	1: 136,012,097 (GRCm39)	L513R	probably damaging	Het
Cnn3	T	A	3: 121,245,078 (GRCm39)	M98K	probably benign	Het
Cttnbp2	T	A	6: 18,427,532 (GRCm39)	L716F	probably damaging	Het
Dlgap1	A	T	17: 70,823,233 (GRCm39)	R73W	probably damaging	Het
Dnajc4	A	G	19: 6,965,638 (GRCm39)	L182P	probably damaging	Het
Dock2	T	C	11: 34,217,998 (GRCm39)	M1191V	probably benign	Het
Fam13a	C	T	6: 58,960,873 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,153,555 (GRCm39)	G2569E	possibly damaging	Het
Fes	T	C	7: 80,029,620 (GRCm39)	I623V	probably damaging	Het
Fyco1	A	C	9: 123,658,055 (GRCm39)	L707R	possibly damaging	Het
Gadd45b	T	A	10: 80,766,169 (GRCm39)	V7E	possibly damaging	Het
Gm19410	T	A	8: 36,262,753 (GRCm39)	C897S	probably damaging	Het
Hk1	A	G	10: 62,151,299 (GRCm39)	L31P	probably damaging	Het
Hoxa4	T	G	6: 52,167,397 (GRCm39)	K261N	probably damaging	Het
Hrh4	T	A	18: 13,148,869 (GRCm39)	L77*	probably null	Het
Igf1r	A	T	7: 67,861,802 (GRCm39)	I1121F	possibly damaging	Het
Igkv16-104	A	T	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Itk	A	T	11: 46,231,519 (GRCm39)	W346R	probably benign	Het
Kdm2a	A	G	19: 4,369,184 (GRCm39)	S1144P	probably damaging	Het
Krt86	A	T	15: 101,374,473 (GRCm39)	S289C	probably damaging	Het
Lonrf1	T	C	8: 36,690,070 (GRCm39)	I663V	probably benign	Het
Lrp2	T	G	2: 69,256,371 (GRCm39)	I4590L	probably benign	Het
Lrrc8d	C	T	5: 105,960,891 (GRCm39)	R434C	probably damaging	Het
Maneal	T	C	4: 124,755,638 (GRCm39)	Y108C	probably damaging	Het
Myh8	G	A	11: 67,185,430 (GRCm39)	V894I	probably benign	Het
Ncam2	T	G	16: 81,412,708 (GRCm39)	L732R	probably damaging	Het
Nsun4	A	T	4: 115,901,997 (GRCm39)	D156E	probably damaging	Het
Or10z1	T	C	1: 174,078,260 (GRCm39)	I78V	probably benign	Het
Or1e23	A	C	11: 73,407,983 (GRCm39)	L14R	probably damaging	Het
Or2n1d	A	T	17: 38,646,146 (GRCm39)	I33L	probably benign	Het
Or5b106	A	T	19: 13,123,345 (GRCm39)	M226K	probably benign	Het
Or5v1b	T	C	17: 37,841,075 (GRCm39)	I69T	probably benign	Het
Or6c66	C	A	10: 129,461,094 (GRCm39)	V279F	probably damaging	Het
P2rx7	G	A	5: 122,782,245 (GRCm39)	V37I	probably benign	Het
Pcdh15	A	G	10: 74,481,359 (GRCm39)	R235G	probably benign	Het
Pcdhga1	T	C	18: 37,796,513 (GRCm39)	S506P	probably damaging	Het
Pira2	A	T	7: 3,845,435 (GRCm39)		probably null	Het
Plch1	A	G	3: 63,609,402 (GRCm39)	V935A	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prpf8	A	G	11: 75,383,423 (GRCm39)	D607G	possibly damaging	Het
Ptpn9	C	A	9: 56,943,900 (GRCm39)	P258Q	possibly damaging	Het
Rfpl4b	A	G	10: 38,697,346 (GRCm39)	V85A	possibly damaging	Het
Sacs	C	A	14: 61,442,327 (GRCm39)	Q1458K	probably damaging	Het
Scfd2	A	T	5: 74,692,211 (GRCm39)	S24T	probably benign	Het
Siae	A	G	9: 37,544,980 (GRCm39)	D325G	probably benign	Het
Slc22a23	C	A	13: 34,366,960 (GRCm39)	A683S	probably damaging	Het
Slc44a3	A	T	3: 121,306,009 (GRCm39)	I244N	possibly damaging	Het
Srrm2	T	A	17: 24,037,501 (GRCm39)	S1382T	probably benign	Het
Tfap2c	A	G	2: 172,393,706 (GRCm39)	Y207C	probably damaging	Het
Timd5	C	A	11: 46,426,366 (GRCm39)	P158T	probably benign	Het
Tnc	T	C	4: 63,926,857 (GRCm39)	I890V	probably benign	Het
Trim30a	A	T	7: 104,078,545 (GRCm39)	I177N	probably benign	Het
Tshz2	T	A	2: 169,728,251 (GRCm39)	M949K	possibly damaging	Het
Ttn	T	G	2: 76,555,530 (GRCm39)	T30492P	probably damaging	Het
Ubb	C	T	11: 62,443,611 (GRCm39)	Q214*	probably null	Het
Ulk2	A	G	11: 61,698,916 (GRCm39)	S423P	probably benign	Het
Vmn1r237	C	A	17: 21,534,725 (GRCm39)	D149E	probably benign	Het
Zbtb24	A	G	10: 41,327,504 (GRCm39)	D130G	probably benign	Het
Zfp689	C	A	7: 127,043,523 (GRCm39)	G369V	probably damaging	Het
Zg16	A	G	7: 126,649,577 (GRCm39)	F128S	probably damaging	Het
Zmym1	T	G	4: 126,944,578 (GRCm39)	N203T	possibly 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
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
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'- AAGAGCCTGATTCAGACTTTGTTG -3'
(R):5'- AGCAGCATTTTCTACATGGATG -3'

Sequencing Primer
(F):5'- AGCCTGATTCAGACTTTGTTGTTGTG -3'
(R):5'- TTGAGATTGCACTACAACCCATTC -3'

Posted On

2020-08-01