Mutagenetix > Incidental Mutation

Incidental Mutation 'R0669:Lipo3'

62168

Institutional Source

Beutler Lab

Gene Symbol

Lipo3

Ensembl Gene

ENSMUSG00000024766

Gene Name

lipase, member O3

Synonyms

Lipo1

MMRRC Submission

038854-MU

Accession Numbers

Essential gene?

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

Stock #

R0669 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

33532560-33568069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33537025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 232 (T232S)

Ref Sequence

ENSEMBL: ENSMUSP00000108127 (fasta)

Gene Model

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

AlphaFold

Q3UT41

Predicted Effect

probably benign
Transcript: ENSMUST00000025694
AA Change: T232S

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025694
Gene: ENSMUSG00000024766
AA Change: T232S

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
AA Change: T232S

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108127
Gene: ENSMUSG00000024766
AA Change: T232S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,089,671 (GRCm39)	H71L	possibly damaging	Het
Abcb11	C	A	2: 69,159,662 (GRCm39)	V10L	probably benign	Het
Abcb9	T	C	5: 124,200,950 (GRCm39)	T689A	probably damaging	Het
Adam22	A	G	5: 8,193,036 (GRCm39)		probably benign	Het
Adamts5	A	G	16: 85,696,614 (GRCm39)	I181T	probably benign	Het
Adamts9	A	T	6: 92,857,938 (GRCm39)	V231D	probably damaging	Het
Angptl6	C	T	9: 20,787,823 (GRCm39)	V197M	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,772 (GRCm39)	V99A	probably benign	Het
Cacna2d3	A	G	14: 29,189,906 (GRCm39)	V110A	probably benign	Het
Ccdc32	A	G	2: 118,849,648 (GRCm39)		probably benign	Het
Cela3b	T	C	4: 137,155,841 (GRCm39)	H22R	probably benign	Het
Cep44	T	C	8: 56,994,008 (GRCm39)	T190A	possibly damaging	Het
Chsy1	T	C	7: 65,821,435 (GRCm39)	C557R	probably damaging	Het
Cntd1	A	G	11: 101,178,324 (GRCm39)	T308A	probably damaging	Het
Cutal	T	C	2: 34,775,878 (GRCm39)		probably benign	Het
Dipk1b	A	G	2: 26,524,878 (GRCm39)	T93A	probably benign	Het
Dna2	A	G	10: 62,792,768 (GRCm39)	D261G	probably damaging	Het
Dnhd1	T	A	7: 105,342,911 (GRCm39)	S1418R	probably benign	Het
Dnpep	A	G	1: 75,288,422 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,875,716 (GRCm39)	Y1075N	probably benign	Het
Eif2s1	C	T	12: 78,928,012 (GRCm39)		probably benign	Het
Ess2	T	C	16: 17,725,419 (GRCm39)	Y221C	probably damaging	Het
Fer1l6	T	C	15: 58,425,573 (GRCm39)		probably null	Het
Gm5592	T	C	7: 40,805,254 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,395,073 (GRCm39)	Y536C	probably damaging	Het
Krt72	T	C	15: 101,686,740 (GRCm39)	E402G	probably damaging	Het
Lamb3	T	C	1: 193,014,638 (GRCm39)	L599P	probably damaging	Het
Lingo2	T	A	4: 35,709,120 (GRCm39)	T287S	probably benign	Het
Lrrc63	G	A	14: 75,363,550 (GRCm39)	H194Y	probably benign	Het
Map3k13	A	G	16: 21,725,274 (GRCm39)	T416A	probably benign	Het
Mcm3	A	T	1: 20,875,153 (GRCm39)		probably null	Het
Mms22l	T	C	4: 24,517,223 (GRCm39)	V258A	probably benign	Het
Mrpl46	A	T	7: 78,432,631 (GRCm39)	L49*	probably null	Het
Mrs2	T	C	13: 25,177,742 (GRCm39)	T369A	possibly damaging	Het
Mtrf1	T	A	14: 79,656,708 (GRCm39)	Y403*	probably null	Het
Muc20	G	A	16: 32,614,850 (GRCm39)	P176S	unknown	Het
Mup21	C	T	4: 62,068,964 (GRCm39)	C9Y	unknown	Het
Mup-ps21	A	T	4: 61,949,007 (GRCm39)		noncoding transcript	Het
Mybph	T	G	1: 134,125,081 (GRCm39)		probably null	Het
Mypn	A	G	10: 62,970,702 (GRCm39)		probably benign	Het
Nav2	T	C	7: 49,058,431 (GRCm39)	S124P	probably damaging	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Numa1	A	C	7: 101,648,884 (GRCm39)	I872L	probably benign	Het
Or14c40	A	G	7: 86,313,544 (GRCm39)	I225V	possibly damaging	Het
Or2a7	C	T	6: 43,150,938 (GRCm39)	T6I	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4c11	A	T	2: 88,695,272 (GRCm39)	M108L	probably benign	Het
Or5p52	T	A	7: 107,502,446 (GRCm39)	I174K	probably damaging	Het
Pcdhb9	A	T	18: 37,535,308 (GRCm39)	N434I	probably damaging	Het
Pigq	A	T	17: 26,155,736 (GRCm39)		probably null	Het
Plxna2	T	G	1: 194,471,145 (GRCm39)	V972G	probably damaging	Het
Psma3	G	A	12: 71,035,269 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,703,975 (GRCm39)	T1336A	probably benign	Het
Rdh7	T	C	10: 127,720,598 (GRCm39)	D258G	probably benign	Het
Serpinb6c	A	G	13: 34,083,252 (GRCm39)	I54T	probably damaging	Het
Sh2d7	A	T	9: 54,448,633 (GRCm39)	Y218F	probably benign	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Slc12a8	A	T	16: 33,371,274 (GRCm39)	I137F	possibly damaging	Het
Smarca2	T	C	19: 26,683,600 (GRCm39)	V1153A	possibly damaging	Het
Smc6	A	T	12: 11,339,165 (GRCm39)	I334L	probably benign	Het
Sorcs1	A	G	19: 50,230,380 (GRCm39)		probably benign	Het
Taar8c	A	G	10: 23,977,401 (GRCm39)	L137P	probably damaging	Het
Tcam1	A	T	11: 106,176,252 (GRCm39)	D326V	possibly damaging	Het
Telo2	A	T	17: 25,324,797 (GRCm39)	V461D	probably benign	Het
Tmprss7	A	T	16: 45,498,325 (GRCm39)	C351*	probably null	Het
Trim66	T	A	7: 109,054,199 (GRCm39)		probably benign	Het
Ube2d1	G	T	10: 71,097,940 (GRCm39)	H32N	probably benign	Het
Ubp1	T	C	9: 113,793,736 (GRCm39)		probably benign	Het
Vma21	C	T	X: 70,863,763 (GRCm39)	T81M	probably damaging	Het
Vmn1r113	T	C	7: 20,521,345 (GRCm39)	S46P	probably benign	Het
Wars1	T	C	12: 108,831,944 (GRCm39)	S374G	probably benign	Het
Wbp1	T	C	6: 83,096,326 (GRCm39)	D277G	possibly damaging	Het
Zfp939	C	A	7: 39,123,209 (GRCm39)		noncoding transcript	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
R0568:Lipo3	UTSW	19	33,559,442 (GRCm39)	splice site	probably benign
R0646:Lipo3	UTSW	19	33,762,169 (GRCm39)	nonsense	probably null
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'- CATGCAGGGCACACCTTGATTTTC -3'
(R):5'- TCAGTGAAGTAAGCCAATCCACTTCAG -3'

Sequencing Primer
(F):5'- AACAacacacacacacacacac -3'
(R):5'- CAGCAGCACACAGTAGTTTTGTC -3'

Posted On

2013-07-30