Mutagenetix > Incidental Mutation

Incidental Mutation 'R0071:Lipa'

98863

Institutional Source

Beutler Lab

Gene Symbol

Lipa

Ensembl Gene

ENSMUSG00000024781

Gene Name

lysosomal acid lipase A

Synonyms

Lal, Lip1, Lip-1

MMRRC Submission

038362-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0071 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34469718-34504874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34472482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 313 (K313M)

Ref Sequence

ENSEMBL: ENSMUSP00000136967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049572] [ENSMUST00000178114]

AlphaFold

Q9Z0M5

Predicted Effect

probably damaging
Transcript: ENSMUST00000049572
AA Change: K313M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000053270
Gene: ENSMUSG00000024781
AA Change: K313M

Domain	Start	End	E-Value	Type
Pfam:Abhydro_lipase	35	97	1.4e-27	PFAM
Pfam:Abhydrolase_5	78	373	2.6e-11	PFAM
Pfam:Abhydrolase_6	80	382	2.2e-10	PFAM
Pfam:Abhydrolase_1	111	388	1e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178114
AA Change: K313M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136967
Gene: ENSMUSG00000024781
AA Change: K313M

Domain	Start	End	E-Value	Type
Pfam:Abhydro_lipase	35	97	1.3e-27	PFAM
Pfam:Abhydrolase_5	78	373	2.5e-11	PFAM
Pfam:Abhydrolase_1	78	379	3.9e-31	PFAM

Meta Mutation Damage Score

0.1628

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.2%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice show massive accumulation of triglycerides and cholesteryl esters in several organs, depletion of white and brown fat, hepatosplenomegaly, increased energy intake and plasma free fatty acid levels, insulin resistance, lung inflammation, alveolar destruction and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 35,812,746 (GRCm39)		probably benign	Het
Acot12	T	C	13: 91,929,293 (GRCm39)		probably benign	Het
Acrbp	T	C	6: 125,027,915 (GRCm39)		probably benign	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Aox3	T	A	1: 58,211,050 (GRCm39)	C931*	probably null	Het
Apob	T	A	12: 8,052,111 (GRCm39)	V1184E	probably damaging	Het
Arhgap44	A	T	11: 64,902,721 (GRCm39)	L582Q	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Bccip	A	G	7: 133,315,960 (GRCm39)	D72G	probably damaging	Het
Bckdha	A	T	7: 25,329,868 (GRCm39)		probably null	Het
Bmerb1	A	G	16: 13,906,818 (GRCm39)	D11G	probably damaging	Het
Cald1	C	T	6: 34,735,069 (GRCm39)		probably benign	Het
Cby2	A	G	14: 75,821,621 (GRCm39)	S44P	probably benign	Het
Cdk11b	T	C	4: 155,733,880 (GRCm39)		probably benign	Het
Cebpe	G	T	14: 54,948,061 (GRCm39)	R261S	probably damaging	Het
Cep95	C	T	11: 106,681,554 (GRCm39)		probably benign	Het
Chi3l1	T	C	1: 134,113,017 (GRCm39)	Y150H	probably benign	Het
Chrnd	T	C	1: 87,120,559 (GRCm39)		probably benign	Het
Clec4g	T	A	8: 3,767,489 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,275,407 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,391 (GRCm39)	L93Q	probably damaging	Het
Csmd3	T	C	15: 47,460,217 (GRCm39)	T3525A	probably benign	Het
Ctsc	G	A	7: 87,957,357 (GRCm39)		probably benign	Het
Dnajc16	T	C	4: 141,495,318 (GRCm39)	T467A	probably benign	Het
Dnmt1	G	A	9: 20,819,916 (GRCm39)	T1409I	probably damaging	Het
Fam227b	T	A	2: 125,965,994 (GRCm39)	N144Y	probably benign	Het
Fam83h	A	G	15: 75,874,377 (GRCm39)	S987P	probably benign	Het
Fhod1	A	T	8: 106,063,857 (GRCm39)		probably null	Het
Folr1	A	G	7: 101,513,130 (GRCm39)		probably null	Het
Glis3	C	T	19: 28,241,255 (GRCm39)		probably benign	Het
Gm10069	T	C	6: 128,449,688 (GRCm39)		noncoding transcript	Het
Golgb1	G	A	16: 36,735,865 (GRCm39)	R1704Q	probably benign	Het
Gpr158	C	A	2: 21,815,479 (GRCm39)	T624K	probably benign	Het
Helz2	T	C	2: 180,878,200 (GRCm39)	Y866C	probably damaging	Het
Itpkb	T	A	1: 180,160,330 (GRCm39)	V152E	probably damaging	Het
Kcnma1	C	T	14: 23,576,835 (GRCm39)	R236H	probably damaging	Het
Klhl32	A	G	4: 24,743,907 (GRCm39)	V88A	probably damaging	Het
Lct	C	T	1: 128,219,755 (GRCm39)	W1631*	probably null	Het
Ly75	T	C	2: 60,152,163 (GRCm39)	K1130R	probably benign	Het
Mamdc2	C	A	19: 23,280,994 (GRCm39)	E685*	probably null	Het
Mdm1	A	G	10: 117,982,701 (GRCm39)	E112G	probably damaging	Het
Metrnl	A	T	11: 121,606,826 (GRCm39)	M212L	probably benign	Het
Mettl2	A	G	11: 105,022,468 (GRCm39)		probably benign	Het
Mxd3	A	T	13: 55,477,449 (GRCm39)	L11Q	probably damaging	Het
Myo7a	A	T	7: 97,706,037 (GRCm39)	Y1836N	probably damaging	Het
Nsun7	A	G	5: 66,421,388 (GRCm39)	Y118C	probably benign	Het
Obscn	G	A	11: 58,955,027 (GRCm39)	T3962M	possibly damaging	Het
Or13a20	A	T	7: 140,232,170 (GRCm39)	I93F	probably benign	Het
Or2d36	A	G	7: 106,746,919 (GRCm39)	Y132C	probably damaging	Het
Or5k3	C	A	16: 58,969,578 (GRCm39)	R122S	probably benign	Het
Osbpl11	T	C	16: 33,034,708 (GRCm39)		probably benign	Het
Pcdhb22	A	T	18: 37,653,131 (GRCm39)	D276V	probably damaging	Het
Pik3cb	A	T	9: 98,926,918 (GRCm39)	D886E	probably benign	Het
Pkhd1	T	A	1: 20,271,568 (GRCm39)	Y2995F	probably benign	Het
Raver2	C	T	4: 100,977,642 (GRCm39)		probably benign	Het
Rhbdf1	A	G	11: 32,160,498 (GRCm39)	L684P	probably damaging	Het
Rufy2	C	A	10: 62,824,946 (GRCm39)	L75M	possibly damaging	Het
Sec22c	A	G	9: 121,521,979 (GRCm39)	F44L	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpina1a	T	C	12: 103,822,002 (GRCm39)	K310R	probably benign	Het
Shoc1	A	G	4: 59,059,643 (GRCm39)	Y1006H	possibly damaging	Het
Sobp	A	G	10: 43,033,993 (GRCm39)	L111P	probably damaging	Het
Sparcl1	G	T	5: 104,233,707 (GRCm39)	Y547*	probably null	Het
Spata31d1b	G	A	13: 59,863,163 (GRCm39)	A104T	probably benign	Het
Spsb3	A	G	17: 25,106,878 (GRCm39)	D184G	probably damaging	Het
Sptan1	A	T	2: 29,893,354 (GRCm39)	K1148*	probably null	Het
Tdrd12	A	G	7: 35,228,671 (GRCm39)	V17A	possibly damaging	Het
Tlr9	A	G	9: 106,100,777 (GRCm39)	T23A	probably benign	Het
Tra2b	A	T	16: 22,073,151 (GRCm39)		probably benign	Het
Tspan15	A	G	10: 62,038,849 (GRCm39)		probably benign	Het
Ttc41	A	G	10: 86,572,710 (GRCm39)	N694S	probably benign	Het
Ttn	T	G	2: 76,597,813 (GRCm39)	D19700A	probably damaging	Het
Ube3b	G	A	5: 114,557,558 (GRCm39)	G1014D	probably damaging	Het
Unc5d	A	G	8: 29,209,854 (GRCm39)	V422A	possibly damaging	Het
Vmn2r80	C	T	10: 79,007,566 (GRCm39)	T514I	possibly damaging	Het
Zfp595	T	C	13: 67,464,917 (GRCm39)	K452E	possibly damaging	Het
Zfp607a	A	G	7: 27,577,694 (GRCm39)	K255E	probably damaging	Het
Zxdc	T	G	6: 90,347,398 (GRCm39)	V253G	probably damaging	Het

Other mutations in Lipa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02469:Lipa	APN	19	34,471,435 (GRCm39)	missense	probably damaging	1.00
IGL02517:Lipa	APN	19	34,471,522 (GRCm39)	missense	possibly damaging	0.47
IGL02869:Lipa	APN	19	34,471,371 (GRCm39)	utr 3 prime	probably benign
IGL02869:Lipa	APN	19	34,471,397 (GRCm39)	missense	probably benign	0.01
buckboard	UTSW	19	34,502,146 (GRCm39)	missense	probably benign	0.04
Pashtun	UTSW	19	34,488,328 (GRCm39)	missense	probably damaging	1.00
suri	UTSW	19	34,479,034 (GRCm39)	nonsense	probably null
R0244:Lipa	UTSW	19	34,478,941 (GRCm39)	missense	probably damaging	1.00
R1871:Lipa	UTSW	19	34,488,328 (GRCm39)	missense	probably damaging	1.00
R1929:Lipa	UTSW	19	34,488,290 (GRCm39)	nonsense	probably null
R2189:Lipa	UTSW	19	34,502,199 (GRCm39)	missense	probably benign	0.13
R2270:Lipa	UTSW	19	34,488,290 (GRCm39)	nonsense	probably null
R2271:Lipa	UTSW	19	34,488,290 (GRCm39)	nonsense	probably null
R2272:Lipa	UTSW	19	34,488,290 (GRCm39)	nonsense	probably null
R4737:Lipa	UTSW	19	34,479,034 (GRCm39)	nonsense	probably null
R5713:Lipa	UTSW	19	34,500,832 (GRCm39)	missense	probably benign	0.00
R6381:Lipa	UTSW	19	34,502,146 (GRCm39)	missense	probably benign	0.04
R8338:Lipa	UTSW	19	34,471,477 (GRCm39)	missense	probably benign	0.01
RF012:Lipa	UTSW	19	34,486,498 (GRCm39)	missense	probably damaging	1.00
X0067:Lipa	UTSW	19	34,486,420 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGGGAAGATCTGAGTGGACTGAG -3'
(R):5'- AGGGGCAATCCTTCTGGTCATAGC -3'

Sequencing Primer
(F):5'- TGGACTGAGAGAAAACTTCATAACC -3'
(R):5'- CCGGCCCTAGTAACCTCTTATATT -3'

Posted On

2014-01-10