Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01086:Pla1a'

52904

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pla1a

Ensembl Gene

ENSMUSG00000002847

Gene Name

phospholipase A1 member A

Synonyms

Ps-pla1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL01086

Quality Score

Status

Chromosome

Chromosomal Location

38216479-38253507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38227984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 298 (N298D)

Ref Sequence

ENSEMBL: ENSMUSP00000002926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002926]

AlphaFold

Q8VI78

Predicted Effect

probably benign
Transcript: ENSMUST00000002926
AA Change: N298D

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000002926
Gene: ENSMUSG00000002847
AA Change: N298D

Domain	Start	End	E-Value	Type
Pfam:Lipase	15	336	9.4e-111	PFAM

Coding Region Coverage

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 is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,796,729 (GRCm39)	R104S	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Aim2	A	G	1: 173,282,999 (GRCm39)	Y27C	probably damaging	Het
Apol7b	T	C	15: 77,308,114 (GRCm39)	E127G	probably damaging	Het
Atp10a	T	C	7: 58,474,066 (GRCm39)	F1118L	probably damaging	Het
Cacna1e	T	C	1: 154,347,347 (GRCm39)	D940G	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Clip4	G	A	17: 72,131,789 (GRCm39)	V376I	probably benign	Het
Cmklr2	T	C	1: 63,222,650 (GRCm39)	E195G	probably benign	Het
Coro6	C	A	11: 77,357,374 (GRCm39)	C194*	probably null	Het
Crebbp	T	C	16: 3,997,416 (GRCm39)	M223V	probably benign	Het
Dkk4	T	A	8: 23,116,857 (GRCm39)	C157S	probably damaging	Het
Dnah14	T	C	1: 181,579,611 (GRCm39)	L3048S	probably benign	Het
Dscaml1	T	C	9: 45,613,960 (GRCm39)		probably benign	Het
Gria2	T	C	3: 80,599,688 (GRCm39)	Y732C	probably damaging	Het
Igkv4-59	T	C	6: 69,415,707 (GRCm39)	I7V	probably benign	Het
Lamc3	T	C	2: 31,788,488 (GRCm39)	F216S	probably damaging	Het
Lcn6	T	C	2: 25,570,792 (GRCm39)	F61L	probably benign	Het
Nup205	T	A	6: 35,185,871 (GRCm39)		probably benign	Het
Or5w18	T	A	2: 87,633,544 (GRCm39)	Y266*	probably null	Het
Otof	C	T	5: 30,533,617 (GRCm39)		probably null	Het
Pik3c2b	T	C	1: 133,019,356 (GRCm39)	C1035R	probably damaging	Het
Poteg	T	A	8: 27,963,648 (GRCm39)		probably benign	Het
Pwp1	T	C	10: 85,715,757 (GRCm39)		probably null	Het
Scel	A	G	14: 103,849,827 (GRCm39)	I631V	probably benign	Het
Scn3a	T	A	2: 65,300,503 (GRCm39)	M1288L	probably benign	Het
Serpina11	T	A	12: 103,952,329 (GRCm39)	D147V	probably damaging	Het
Shroom3	T	A	5: 93,096,311 (GRCm39)	C1266S	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Srms	A	G	2: 180,854,216 (GRCm39)	V117A	probably damaging	Het
Tmem161b	T	C	13: 84,370,541 (GRCm39)		probably benign	Het
Tmem94	A	T	11: 115,681,110 (GRCm39)	T158S	probably benign	Het
Tomm40l	T	C	1: 171,047,878 (GRCm39)		probably null	Het
Traf6	A	G	2: 101,515,128 (GRCm39)	I95V	probably benign	Het
Ttc13	A	G	8: 125,402,085 (GRCm39)	I686T	probably damaging	Het
Zmat2	C	T	18: 36,929,163 (GRCm39)	H104Y	probably damaging	Het

Other mutations in Pla1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Pla1a	APN	16	38,235,212 (GRCm39)	missense	probably damaging	1.00
IGL01126:Pla1a	APN	16	38,228,001 (GRCm39)	missense	probably benign
R1674:Pla1a	UTSW	16	38,235,172 (GRCm39)	missense	probably benign	0.00
R2101:Pla1a	UTSW	16	38,235,730 (GRCm39)	missense	probably damaging	0.99
R2415:Pla1a	UTSW	16	38,228,112 (GRCm39)	missense	possibly damaging	0.69
R2987:Pla1a	UTSW	16	38,228,104 (GRCm39)	missense	probably damaging	1.00
R4492:Pla1a	UTSW	16	38,229,972 (GRCm39)	missense	probably benign
R5365:Pla1a	UTSW	16	38,237,569 (GRCm39)	missense	probably benign	0.01
R5424:Pla1a	UTSW	16	38,235,137 (GRCm39)	missense	probably damaging	1.00
R6349:Pla1a	UTSW	16	38,237,486 (GRCm39)	missense	probably benign	0.04
R6388:Pla1a	UTSW	16	38,217,834 (GRCm39)	missense	probably benign
R6443:Pla1a	UTSW	16	38,229,949 (GRCm39)	splice site	probably null
R6996:Pla1a	UTSW	16	38,217,830 (GRCm39)	missense	probably benign	0.04
R7021:Pla1a	UTSW	16	38,221,244 (GRCm39)	missense	probably damaging	0.97
R7519:Pla1a	UTSW	16	38,235,208 (GRCm39)	missense	possibly damaging	0.82
R8715:Pla1a	UTSW	16	38,230,000 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-06-21