Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:Lipo3'

104313

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lipo3

Ensembl Gene

ENSMUSG00000024766

Gene Name

lipase, member O3

Synonyms

Lipo1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

33532560-33568069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33536965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 252 (C252S)

Ref Sequence

ENSEMBL: ENSMUSP00000108127 (fasta)

Gene Model

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

AlphaFold

Q3UT41

Predicted Effect

probably damaging
Transcript: ENSMUST00000025694
AA Change: C252S

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

SMART Domains

Protein: ENSMUSP00000025694
Gene: ENSMUSG00000024766
AA Change: C252S

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 damaging
Transcript: ENSMUST00000112508
AA Change: C252S

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

SMART Domains

Protein: ENSMUSP00000108127
Gene: ENSMUSG00000024766
AA Change: C252S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145807

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,203,613 (GRCm39)		probably benign	Het
Arid2	A	C	15: 96,259,453 (GRCm39)		probably null	Het
Cadm1	C	A	9: 47,761,622 (GRCm39)	D435E	probably damaging	Het
Dagla	A	G	19: 10,248,562 (GRCm39)	F33L	probably benign	Het
Edrf1	A	G	7: 133,245,459 (GRCm39)	H199R	probably benign	Het
F5	T	A	1: 164,021,621 (GRCm39)	N1365K	probably benign	Het
Gipc2	T	G	3: 151,843,245 (GRCm39)	I131L	probably benign	Het
Gpc1	C	T	1: 92,786,132 (GRCm39)	S507F	possibly damaging	Het
Grid1	A	G	14: 35,031,214 (GRCm39)	D269G	probably benign	Het
Ighv12-3	A	T	12: 114,330,573 (GRCm39)	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871 (GRCm39)	H129R	possibly damaging	Het
Mast4	A	C	13: 102,904,401 (GRCm39)	N645K	probably damaging	Het
Megf9	T	A	4: 70,351,709 (GRCm39)	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,953,477 (GRCm39)	D586G	possibly damaging	Het
Ninl	A	T	2: 150,781,867 (GRCm39)	L1206Q	probably damaging	Het
Oog2	T	A	4: 143,921,754 (GRCm39)	N221K	possibly damaging	Het
Or13a17	T	C	7: 140,271,565 (GRCm39)	V249A	possibly damaging	Het
Or5b96	T	A	19: 12,867,831 (GRCm39)	T37S	probably benign	Het
Or6c8b	C	A	10: 128,882,371 (GRCm39)	C187F	probably damaging	Het
Pik3ap1	G	A	19: 41,313,018 (GRCm39)	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,356,972 (GRCm39)	E181G	probably benign	Het
Scaf11	A	C	15: 96,321,504 (GRCm39)		probably benign	Het
Skic3	C	T	13: 76,276,852 (GRCm39)	L479F	probably benign	Het
Skint7	T	A	4: 111,837,654 (GRCm39)		probably benign	Het
Sox14	T	C	9: 99,757,716 (GRCm39)	I8V	probably benign	Het
Spata31f3	T	A	4: 42,874,163 (GRCm39)	M2L	probably benign	Het
Stim1	A	T	7: 102,075,176 (GRCm39)		probably benign	Het
Ttll3	T	C	6: 113,376,690 (GRCm39)	S357P	probably benign	Het
Vmn1r178	T	A	7: 23,593,114 (GRCm39)	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,920,460 (GRCm39)		probably benign	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
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
R0568:Lipo3	UTSW	19	33,559,442 (GRCm39)	splice site	probably benign
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

Posted On

2014-01-21