Mutagenetix > Incidental Mutation

Incidental Mutation 'R2270:Lipa'

242432

Institutional Source

Beutler Lab

Gene Symbol

Lipa

Ensembl Gene

ENSMUSG00000024781

Gene Name

lysosomal acid lipase A

Synonyms

Lal, Lip1, Lip-1

MMRRC Submission

040270-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2270 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34469718-34504874 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 34488290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 119 (R119*)

Ref Sequence

ENSEMBL: ENSMUSP00000136967 (fasta)

Gene Model

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

AlphaFold

Q9Z0M5

Predicted Effect

probably null
Transcript: ENSMUST00000049572
AA Change: R119*

SMART Domains

Protein: ENSMUSP00000053270
Gene: ENSMUSG00000024781
AA Change: R119*

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 null
Transcript: ENSMUST00000178114
AA Change: R119*

SMART Domains

Protein: ENSMUSP00000136967
Gene: ENSMUSG00000024781
AA Change: R119*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,065,863 (GRCm39)	R54W	possibly damaging	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Atp11b	A	G	3: 35,864,283 (GRCm39)		probably null	Het
Bmal2	T	C	6: 146,723,612 (GRCm39)	F314S	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Chat	T	C	14: 32,176,538 (GRCm39)	R79G	probably damaging	Het
Chek1	A	G	9: 36,630,982 (GRCm39)	L144P	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Crip2	A	C	12: 113,108,486 (GRCm39)	K62N	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Dnm3	A	T	1: 162,305,358 (GRCm39)	L12Q	probably damaging	Het
Eftud2	T	C	11: 102,755,607 (GRCm39)	N200S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gpr143	T	A	X: 151,573,566 (GRCm39)	V181E	probably damaging	Het
Gtf2f1	T	C	17: 57,310,462 (GRCm39)	I498V	probably null	Het
Ipo4	A	G	14: 55,871,557 (GRCm39)	L168P	probably damaging	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mre11a	A	G	9: 14,726,470 (GRCm39)	E411G	probably benign	Het
Mybpc1	C	A	10: 88,387,269 (GRCm39)	V106F	probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
N4bp3	A	T	11: 51,535,132 (GRCm39)	N352K	probably benign	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ncor2	A	G	5: 125,115,019 (GRCm39)	V515A	probably benign	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Olfm4	C	A	14: 80,249,315 (GRCm39)	T144K	probably damaging	Het
Or11g25	G	T	14: 50,723,494 (GRCm39)	C193F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Phf12	G	T	11: 77,875,001 (GRCm39)	A76S	possibly damaging	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prkg1	A	G	19: 30,556,031 (GRCm39)	V610A	probably benign	Het
Prrc2a	T	C	17: 35,368,512 (GRCm39)	T2104A	possibly damaging	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,291,749 (GRCm39)	V252A	probably benign	Het
Rcn3	A	G	7: 44,738,075 (GRCm39)	S98P	probably damaging	Het
Rere	T	C	4: 150,561,837 (GRCm39)	S248P	unknown	Het
Rnaseh2a	T	C	8: 85,692,048 (GRCm39)	E75G	probably benign	Het
Slc15a1	A	T	14: 121,717,406 (GRCm39)	M292K	probably damaging	Het
Slc1a2	T	G	2: 102,566,339 (GRCm39)	L14R	probably damaging	Het
Slfn2	C	T	11: 82,960,761 (GRCm39)	R247C	probably damaging	Het
Ttn	T	C	2: 76,778,708 (GRCm39)	I1218M	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Yme1l1	T	C	2: 23,065,232 (GRCm39)	I247T	possibly damaging	Het
Zc3h13	T	C	14: 75,569,587 (GRCm39)	M1478T	probably benign	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Znhit2	A	G	19: 6,111,261 (GRCm39)	E2G	probably damaging	Het
Zpbp	A	T	11: 11,368,272 (GRCm39)	M133K	probably benign	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
R0071:Lipa	UTSW	19	34,472,482 (GRCm39)	missense	probably damaging	1.00
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
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'- ACAACTTTTCAAGATATCAGCTCCC -3'
(R):5'- TTTGGTCCTCCTAACAGTTGGC -3'

Sequencing Primer
(F):5'- AGCTCCCTTTTTAGACAACTTCAGGG -3'
(R):5'- CTGTTTAGCAAAGCATCATGTTTGC -3'

Posted On

2014-10-16