Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0568 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33532560-33568069 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 33559442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108127 (fasta)

Gene Model

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

AlphaFold

Q3UT41

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
Acnat1	G	A	4: 49,451,003 (GRCm39)	T36I	possibly damaging	Het
Adamts20	T	C	15: 94,189,594 (GRCm39)		probably benign	Het
Adamtsl1	T	C	4: 86,336,789 (GRCm39)	L1558S	probably damaging	Het
Ap3b2	A	G	7: 81,114,377 (GRCm39)		probably null	Het
Bag2	T	C	1: 33,786,059 (GRCm39)	M88V	probably benign	Het
Brms1l	A	G	12: 55,908,173 (GRCm39)		probably null	Het
C8b	A	G	4: 104,650,577 (GRCm39)	I462V	probably benign	Het
Cfap410	C	T	10: 77,818,872 (GRCm39)	T181I	possibly damaging	Het
Cfap410	A	T	10: 77,820,381 (GRCm39)	*250C	probably null	Het
Cnpy4	A	G	5: 138,190,839 (GRCm39)	E167G	probably damaging	Het
Copa	T	C	1: 171,939,704 (GRCm39)	V624A	possibly damaging	Het
Gm4553	G	T	7: 141,719,357 (GRCm39)	P24T	unknown	Het
Gna12	A	G	5: 140,746,638 (GRCm39)	V269A	possibly damaging	Het
Gtf2ird2	G	T	5: 134,240,083 (GRCm39)	E302*	probably null	Het
Hmcn2	C	A	2: 31,305,248 (GRCm39)	S3140R	probably benign	Het
Hspa4	A	G	11: 53,153,703 (GRCm39)		probably benign	Het
Hspbp1	A	T	7: 4,687,431 (GRCm39)	L60*	probably null	Het
Lats1	A	T	10: 7,588,292 (GRCm39)	I970F	possibly damaging	Het
Lrrc3	T	A	10: 77,737,419 (GRCm39)	R6W	probably damaging	Het
Lxn	C	T	3: 67,368,335 (GRCm39)	A143T	probably damaging	Het
Mga	T	C	2: 119,765,903 (GRCm39)	I1390T	probably damaging	Het
Ncapg2	T	A	12: 116,386,835 (GRCm39)	I286N	probably damaging	Het
Or4c107	T	A	2: 88,789,387 (GRCm39)	Y192*	probably null	Het
Pitpnm2	A	G	5: 124,278,580 (GRCm39)		probably benign	Het
Plxna2	T	C	1: 194,433,694 (GRCm39)	V581A	probably benign	Het
Polr3d	A	T	14: 70,676,959 (GRCm39)	H378Q	possibly damaging	Het
Ptpn13	T	C	5: 103,637,631 (GRCm39)	V173A	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Smc4	T	C	3: 68,929,794 (GRCm39)		probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Syngr3	C	T	17: 24,905,555 (GRCm39)	A140T	probably benign	Het
Tent2	A	G	13: 93,291,500 (GRCm39)	S381P	probably benign	Het
Tprn	T	C	2: 25,154,333 (GRCm39)	V545A	probably damaging	Het
Trim66	T	C	7: 109,059,902 (GRCm39)	H828R	probably benign	Het
Ugt2b5	G	A	5: 87,285,224 (GRCm39)		probably benign	Het
Vps9d1	A	G	8: 123,973,487 (GRCm39)	V432A	probably damaging	Het
Zswim9	A	T	7: 12,994,952 (GRCm39)	D401E	probably damaging	Het

Other mutations in Lipo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01521:Lipo3	APN	19	33,763,083 (GRCm39)	missense	probably damaging	1.00
IGL01697:Lipo3	APN	19	33,536,965 (GRCm39)	missense	probably damaging	1.00
IGL01916:Lipo3	APN	19	33,762,182 (GRCm39)	missense	probably damaging	1.00
IGL02027:Lipo3	APN	19	33,557,919 (GRCm39)	nonsense	probably null
IGL02047:Lipo3	APN	19	33,534,562 (GRCm39)	missense	probably benign	0.00
IGL02586:Lipo3	APN	19	33,559,539 (GRCm39)	missense	possibly damaging	0.95
IGL03005:Lipo3	APN	19	33,763,136 (GRCm39)	missense	possibly damaging	0.65
IGL03111:Lipo3	APN	19	33,559,637 (GRCm39)	missense	probably damaging	0.96
IGL03404:Lipo3	APN	19	33,560,440 (GRCm39)	splice site	probably benign
R0122:Lipo3	UTSW	19	33,600,086 (GRCm39)	intron	probably benign
R0128:Lipo3	UTSW	19	33,534,506 (GRCm39)	critical splice donor site	probably null
R0540:Lipo3	UTSW	19	33,536,967 (GRCm39)	missense	possibly damaging	0.62
R0551:Lipo3	UTSW	19	33,557,951 (GRCm39)	missense	probably damaging	1.00
R0646:Lipo3	UTSW	19	33,762,169 (GRCm39)	nonsense	probably null
R0669:Lipo3	UTSW	19	33,537,025 (GRCm39)	missense	probably benign	0.05
R1704:Lipo3	UTSW	19	33,757,743 (GRCm39)	missense	possibly damaging	0.87
R1772:Lipo3	UTSW	19	33,764,821 (GRCm39)	missense	probably benign	0.45
R1862:Lipo3	UTSW	19	33,762,092 (GRCm39)	missense	probably damaging	1.00
R1863:Lipo3	UTSW	19	33,762,092 (GRCm39)	missense	probably damaging	1.00
R2911:Lipo3	UTSW	19	33,556,767 (GRCm39)	missense	probably benign	0.00
R3801:Lipo3	UTSW	19	33,762,257 (GRCm39)	missense	probably damaging	0.99
R3802:Lipo3	UTSW	19	33,762,257 (GRCm39)	missense	probably damaging	0.99
R3803:Lipo3	UTSW	19	33,762,257 (GRCm39)	missense	probably damaging	0.99
R3973:Lipo3	UTSW	19	33,535,723 (GRCm39)	missense	probably damaging	1.00
R4020:Lipo3	UTSW	19	33,764,804 (GRCm39)	missense	probably benign	0.00
R4648:Lipo3	UTSW	19	33,760,860 (GRCm39)	missense	probably damaging	1.00
R4660:Lipo3	UTSW	19	33,598,360 (GRCm39)	intron	probably benign
R4775:Lipo3	UTSW	19	33,757,795 (GRCm39)	missense	probably damaging	1.00
R4787:Lipo3	UTSW	19	33,757,749 (GRCm39)	missense	probably benign	0.00
R4820:Lipo3	UTSW	19	33,560,497 (GRCm39)	missense	probably damaging	1.00
R4830:Lipo3	UTSW	19	33,753,987 (GRCm39)	missense	probably damaging	0.99
R4951:Lipo3	UTSW	19	33,759,621 (GRCm39)	missense	probably benign	0.01
R5117:Lipo3	UTSW	19	33,536,952 (GRCm39)	missense	probably benign
R5258:Lipo3	UTSW	19	33,591,243 (GRCm39)	intron	probably benign
R5799:Lipo3	UTSW	19	33,755,093 (GRCm39)	intron	probably benign
R5853:Lipo3	UTSW	19	33,759,630 (GRCm39)	missense	probably benign	0.37
R6235:Lipo3	UTSW	19	33,760,963 (GRCm39)	missense	probably damaging	0.96
R6296:Lipo3	UTSW	19	33,757,737 (GRCm39)	missense	probably benign	0.10
R6383:Lipo3	UTSW	19	33,533,831 (GRCm39)	missense	probably benign	0.02
R6659:Lipo3	UTSW	19	33,533,828 (GRCm39)	missense	possibly damaging	0.55
R6913:Lipo3	UTSW	19	33,757,705 (GRCm39)	missense	probably benign	0.00
R6915:Lipo3	UTSW	19	33,562,293 (GRCm39)	missense	probably damaging	1.00
R7092:Lipo3	UTSW	19	33,591,092 (GRCm39)	splice site	probably null
R7444:Lipo3	UTSW	19	33,535,663 (GRCm39)	critical splice donor site	probably null
R7532:Lipo3	UTSW	19	33,560,464 (GRCm39)	missense	possibly damaging	0.90
R7672:Lipo3	UTSW	19	33,757,785 (GRCm39)	missense	probably benign	0.23
R7796:Lipo3	UTSW	19	33,759,634 (GRCm39)	missense	possibly damaging	0.75
R7945:Lipo3	UTSW	19	33,533,831 (GRCm39)	missense	probably benign	0.02
R8683:Lipo3	UTSW	19	33,759,604 (GRCm39)	missense	probably benign	0.04
R8936:Lipo3	UTSW	19	33,557,880 (GRCm39)	missense	probably damaging	1.00
R9062:Lipo3	UTSW	19	33,757,714 (GRCm39)	missense	probably damaging	1.00
R9086:Lipo3	UTSW	19	33,534,529 (GRCm39)	missense	probably benign	0.44
R9432:Lipo3	UTSW	19	33,533,864 (GRCm39)	missense	probably damaging	1.00
R9615:Lipo3	UTSW	19	33,754,047 (GRCm39)	missense	probably benign	0.02
R9620:Lipo3	UTSW	19	33,559,629 (GRCm39)	nonsense	probably null
Z1176:Lipo3	UTSW	19	33,562,328 (GRCm39)	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