Mutagenetix > Incidental Mutations

Incidental Mutation 'R0568:Lipo3'

46278

Institutional Source

Beutler Lab

Gene Symbol

Lipo3

Ensembl Gene

ENSMUSG00000024766

Gene Name

lipase, member O3

Synonyms

Lipo1

MMRRC Submission

038759-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0568 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33517740-33761951 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 33582042 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025694] [ENSMUST00000112508]

Predicted Effect

probably benign
Transcript: ENSMUST00000025694

SMART Domains

Protein: ENSMUSP00000025694
Gene: ENSMUSG00000024766

Domain	Start	End	E-Value	Type
Pfam:Abhydro_lipase	33	95	4.2e-24	PFAM
Pfam:Abhydrolase_1	76	213	7.3e-16	PFAM
Pfam:Abhydrolase_5	76	370	4.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112508

SMART Domains

Protein: ENSMUSP00000108127
Gene: ENSMUSG00000024766

Domain	Start	End	E-Value	Type
Pfam:Abhydro_lipase	33	95	8.8e-24	PFAM
Pfam:Abhydrolase_5	76	370	5.2e-12	PFAM
Pfam:Abhydrolase_6	77	384	8.5e-10	PFAM
Pfam:Abhydrolase_1	109	384	2e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133269

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	C	T	10: 77,983,038	T181I	possibly damaging	Het
1810043G02Rik	A	T	10: 77,984,547	*250C	probably null	Het
Acnat1	G	A	4: 49,451,003	T36I	possibly damaging	Het
Adamts20	T	C	15: 94,291,713		probably benign	Het
Adamtsl1	T	C	4: 86,418,552	L1558S	probably damaging	Het
Ap3b2	A	G	7: 81,464,629		probably null	Het
Bag2	T	C	1: 33,746,978	M88V	probably benign	Het
Brms1l	A	G	12: 55,861,388		probably null	Het
C8b	A	G	4: 104,793,380	I462V	probably benign	Het
Cnpy4	A	G	5: 138,192,577	E167G	probably damaging	Het
Copa	T	C	1: 172,112,137	V624A	possibly damaging	Het
Gm4553	G	T	7: 142,165,620	P24T	unknown	Het
Gna12	A	G	5: 140,760,883	V269A	possibly damaging	Het
Gtf2ird2	G	T	5: 134,211,242	E302*	probably null	Het
Hmcn2	C	A	2: 31,415,236	S3140R	probably benign	Het
Hspa4	A	G	11: 53,262,876		probably benign	Het
Hspbp1	A	T	7: 4,684,432	L60*	probably null	Het
Lats1	A	T	10: 7,712,528	I970F	possibly damaging	Het
Lrrc3	T	A	10: 77,901,585	R6W	probably damaging	Het
Lxn	C	T	3: 67,461,002	A143T	probably damaging	Het
Mga	T	C	2: 119,935,422	I1390T	probably damaging	Het
Ncapg2	T	A	12: 116,423,215	I286N	probably damaging	Het
Olfr1212	T	A	2: 88,959,043	Y192*	probably null	Het
Papd4	A	G	13: 93,154,992	S381P	probably benign	Het
Pitpnm2	A	G	5: 124,140,517		probably benign	Het
Plxna2	T	C	1: 194,751,386	V581A	probably benign	Het
Polr3d	A	T	14: 70,439,519	H378Q	possibly damaging	Het
Ptpn13	T	C	5: 103,489,765	V173A	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Smc4	T	C	3: 69,022,461		probably null	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Syngr3	C	T	17: 24,686,581	A140T	probably benign	Het
Tprn	T	C	2: 25,264,321	V545A	probably damaging	Het
Trim66	T	C	7: 109,460,695	H828R	probably benign	Het
Ugt2b5	G	A	5: 87,137,365		probably benign	Het
Vps9d1	A	G	8: 123,246,748	V432A	probably damaging	Het
Zswim9	A	T	7: 13,261,026	D401E	probably damaging	Het

Other mutations in Lipo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Lipo3	APN	19	33559565	missense	probably damaging	1.00
IGL02027:Lipo3	APN	19	33580519	nonsense	probably null
IGL02047:Lipo3	APN	19	33557162	missense	probably benign	0.00
IGL02586:Lipo3	APN	19	33582139	missense	possibly damaging	0.95
IGL03111:Lipo3	APN	19	33582237	missense	probably damaging	0.96
IGL03404:Lipo3	APN	19	33583040	splice site	probably benign
R0122:Lipo3	UTSW	19	33622686	intron	probably benign
R0128:Lipo3	UTSW	19	33557106	critical splice donor site	probably null
R0540:Lipo3	UTSW	19	33559567	missense	possibly damaging	0.62
R0551:Lipo3	UTSW	19	33580551	missense	probably damaging	1.00
R0669:Lipo3	UTSW	19	33559625	missense	probably benign	0.05
R2911:Lipo3	UTSW	19	33579367	missense	probably benign	0.00
R3973:Lipo3	UTSW	19	33558323	missense	probably damaging	1.00
R4660:Lipo3	UTSW	19	33620960	intron	probably benign
R4820:Lipo3	UTSW	19	33583097	missense	probably damaging	1.00
R5117:Lipo3	UTSW	19	33559552	missense	probably benign
R5258:Lipo3	UTSW	19	33613843	intron	probably benign
R6383:Lipo3	UTSW	19	33556431	missense	probably benign	0.02
R6659:Lipo3	UTSW	19	33556428	missense	possibly damaging	0.55
R6915:Lipo3	UTSW	19	33584893	missense	probably damaging	1.00
R7092:Lipo3	UTSW	19	33613692	splice site	probably null
R7444:Lipo3	UTSW	19	33558263	critical splice donor site	probably null
R7532:Lipo3	UTSW	19	33583064	missense	possibly damaging	0.90
R7945:Lipo3	UTSW	19	33556431	missense	probably benign	0.02
Z1176:Lipo3	UTSW	19	33584928	missense	probably null	0.97

Predicted Primers

PCR Primer
(F):5'- TGAAGGATACGGGAGGATGTCTGTATG -3'
(R):5'- TCCAATCCGCCTGTCAACAGC -3'

Sequencing Primer
(F):5'- gtctgtaagaagactcagagacc -3'
(R):5'- GTCAACAGCCTGGCCTTC -3'

Posted On

2013-06-11