Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01571:Lypla1'

93280

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lypla1

Ensembl Gene

ENSMUSG00000025903

Gene Name

lysophospholipase 1

Synonyms

Pla1a

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

4807788-4848410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4844988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 222 (I222T)

Ref Sequence

ENSEMBL: ENSMUSP00000027036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027036] [ENSMUST00000115529] [ENSMUST00000119612] [ENSMUST00000131119] [ENSMUST00000134384] [ENSMUST00000137887] [ENSMUST00000150971] [ENSMUST00000155020]

AlphaFold

P97823

Predicted Effect

probably benign
Transcript: ENSMUST00000027036
AA Change: I222T

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027036
Gene: ENSMUSG00000025903
AA Change: I222T

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	226	2.5e-92	PFAM
Pfam:Abhydrolase_5	23	209	4.3e-14	PFAM
Pfam:Abhydrolase_3	82	170	2.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115529
AA Change: I188T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111191
Gene: ENSMUSG00000025903
AA Change: I188T

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	125	1.5e-49	PFAM
Pfam:Abhydrolase_2	122	192	2.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119612

SMART Domains

Protein: ENSMUSP00000137647
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	92	1.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131119

SMART Domains

Protein: ENSMUSP00000118453
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	1	142	8.1e-56	PFAM
Pfam:Abhydrolase_5	10	141	7.8e-11	PFAM
Pfam:Abhydrolase_6	11	139	9.2e-8	PFAM
Pfam:Abhydrolase_3	20	139	4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134384

SMART Domains

Protein: ENSMUSP00000137104
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	224	5.6e-85	PFAM
Pfam:Abhydrolase_5	23	209	4e-14	PFAM
Pfam:Abhydrolase_6	24	160	2.5e-10	PFAM
Pfam:Abhydrolase_3	85	195	2.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137887

SMART Domains

Protein: ENSMUSP00000119456
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	142	5.6e-48	PFAM
Pfam:Abhydrolase_5	23	141	9.3e-10	PFAM
Pfam:Abhydrolase_6	24	141	7.2e-12	PFAM
Pfam:Abhydrolase_3	62	140	2.1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141278

Predicted Effect

probably benign
Transcript: ENSMUST00000150971

SMART Domains

Protein: ENSMUSP00000137248
Gene: ENSMUSG00000025903

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	8	215	1.3e-84	PFAM
Pfam:Abhydrolase_5	23	209	4.4e-14	PFAM
Pfam:Abhydrolase_6	24	160	3.6e-10	PFAM
Pfam:Abhydrolase_3	85	195	1.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155020

SMART Domains

Protein: ENSMUSP00000136108
Gene: ENSMUSG00000104217

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha/beta hydrolase superfamily. The encoded protein functions as a homodimer, exhibiting both depalmitoylating as well as lysophospholipase activity, and may be involved in Ras localization and signaling. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 4, 6, and 7. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Cep164	T	C	9: 45,794,338	Q127R	possibly damaging	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Chd5	T	A	4: 152,384,115		probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Cyp4a12b	A	G	4: 115,438,157	I487V	probably benign	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Klk1	T	C	7: 44,228,596	V92A	probably damaging	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psg21	T	C	7: 18,654,825	D114G	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Pygb	T	C	2: 150,830,473	S831P	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Sgo2a	T	C	1: 58,017,974	S1106P	probably damaging	Het
Slc5a5	G	A	8: 70,891,332		probably benign	Het
Tekt4	A	G	17: 25,476,384	D397G	probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	Het

Other mutations in Lypla1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Lypla1	APN	1	4828587	missense	probably damaging	1.00
IGL01592:Lypla1	APN	1	4828651	critical splice donor site	probably null
IGL01865:Lypla1	APN	1	4837036	missense	probably damaging	0.96
IGL02442:Lypla1	APN	1	4832387	splice site	probably benign
IGL03005:Lypla1	APN	1	4832390	splice site	probably benign
R0095:Lypla1	UTSW	1	4830327	splice site	probably benign
R2278:Lypla1	UTSW	1	4841098	splice site	probably null
R3766:Lypla1	UTSW	1	4840978	missense	probably benign	0.04
R5805:Lypla1	UTSW	1	4830294	missense	possibly damaging	0.54
R6014:Lypla1	UTSW	1	4808371	splice site	probably null
R6027:Lypla1	UTSW	1	4837076	critical splice donor site	probably null
R6842:Lypla1	UTSW	1	4832340	missense	probably benign	0.14
R7285:Lypla1	UTSW	1	4841098	missense	probably benign
R7564:Lypla1	UTSW	1	4808367	critical splice donor site	probably null
R9105:Lypla1	UTSW	1	4841059	missense	probably damaging	1.00

Posted On

2013-12-09