Mutagenetix > Incidental Mutation

Incidental Mutation 'RF012:Lipa'

603304

Institutional Source

Beutler Lab

Gene Symbol

Lipa

Ensembl Gene

ENSMUSG00000024781

Gene Name

lysosomal acid lipase A

Synonyms

Lal, Lip1, Lip-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34469718-34504874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34486498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 141 (S141R)

Ref Sequence

ENSEMBL: ENSMUSP00000053270 (fasta)

Gene Model

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

AlphaFold

Q9Z0M5

Predicted Effect

probably damaging
Transcript: ENSMUST00000049572
AA Change: S141R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053270
Gene: ENSMUSG00000024781
AA Change: S141R

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: S141R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136967
Gene: ENSMUSG00000024781
AA Change: S141R

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

89% (56/63)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,453,552 (GRCm39)	L123Q	probably damaging	Het
AI837181	GCG	GCGTCG	19: 5,475,255 (GRCm39)		probably benign	Het
Akr1e1	T	A	13: 4,645,125 (GRCm39)	N242I	probably damaging	Het
Ankrd7	G	C	6: 18,869,274 (GRCm39)	E194Q	possibly damaging	Het
Ano3	A	G	2: 110,527,868 (GRCm39)	F517L	possibly damaging	Het
Arhgef4	CAAA	C	1: 34,763,565 (GRCm39)		probably benign	Het
Arid1a	AGACGACGA	AGACGA	4: 133,480,131 (GRCm39)		probably benign	Het
Atp2c2	G	T	8: 120,472,253 (GRCm39)	A436S	possibly damaging	Het
BC004004	T	A	17: 29,501,782 (GRCm39)	V107E	probably benign	Het
Begain	CGCCGC	CGCCGCAGCCGC	12: 108,999,353 (GRCm39)		probably benign	Het
Cad	GT	G	5: 31,217,556 (GRCm39)		probably benign	Het
Chi3l1	A	T	1: 134,112,909 (GRCm39)	T122S	probably benign	Het
Clic6	A	G	16: 92,327,697 (GRCm39)	S501G	possibly damaging	Het
Col6a3	A	C	1: 90,738,282 (GRCm39)	L1079R	probably damaging	Het
Coro2a	T	C	4: 46,542,336 (GRCm39)	K346E	probably damaging	Het
Ctsf	A	G	19: 4,908,694 (GRCm39)	N325D	probably benign	Het
Dchs2	A	G	3: 83,262,375 (GRCm39)	E2881G	probably benign	Het
Dnah14	A	G	1: 181,455,463 (GRCm39)	T863A	probably damaging	Het
Dnai2	A	T	11: 114,641,242 (GRCm39)	I356F	probably damaging	Het
Dusp4	ACGGCGGCGGCGGC	ACGGCGGCGGC	8: 35,274,953 (GRCm39)		probably benign	Het
Efhb	T	C	17: 53,720,545 (GRCm39)	N647D	probably damaging	Het
Efhd2	CCG	CCGACGGCG	4: 141,602,079 (GRCm39)		probably benign	Het
Eif3i	A	G	4: 129,485,872 (GRCm39)	Y318H	probably damaging	Het
Fbxl5	T	C	5: 43,930,847 (GRCm39)	H80R	probably damaging	Het
Gab3	TCT	TCTGCT	X: 74,043,626 (GRCm39)		probably benign	Het
Gne	G	T	4: 44,060,045 (GRCm39)	A147D	probably damaging	Het
Gpi1	A	T	7: 33,901,902 (GRCm39)	H538Q	probably damaging	Het
Itih2	T	C	2: 10,122,214 (GRCm39)	H229R	possibly damaging	Het
Kdm7a	A	G	6: 39,183,447 (GRCm39)	V41A	probably damaging	Het
Krtap28-10	GCCACA	GCCACACCCACA	1: 83,019,857 (GRCm39)		probably benign	Het
Medag	G	T	5: 149,335,459 (GRCm39)	C6F	probably benign	Het
Nefh	GGCCTCT	GGCCTCTCCTGGGGACTTTGCCTCT	11: 4,891,055 (GRCm39)		probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,030 (GRCm39)		probably benign	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Opa1	A	G	16: 29,432,784 (GRCm39)	I482M	probably damaging	Het
Or12e14	A	T	2: 87,677,103 (GRCm39)	I163L	probably benign	Het
Pgf	T	C	12: 85,216,316 (GRCm39)		probably null	Het
Pkhd1l1	TTTT	TTTTTTTTTTTATTT	15: 44,421,901 (GRCm39)		probably benign	Het
Pou2f1	G	A	1: 165,740,800 (GRCm39)	T134I	unknown	Het
Pramel32	T	A	4: 88,546,006 (GRCm39)	R445S	probably damaging	Het
Prss52	A	G	14: 64,350,922 (GRCm39)	S236G	probably damaging	Het
Rpsa	A	G	9: 119,960,105 (GRCm39)	T223A	probably benign	Het
Shprh	A	G	10: 11,040,585 (GRCm39)	N686S	probably benign	Het
Six3	CGG	CGGTGG	17: 85,928,796 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc22a27	C	T	19: 7,903,949 (GRCm39)	G63S	probably benign	Het
Tmcc2	G	T	1: 132,288,756 (GRCm39)	N310K	probably damaging	Het
Tmem144	A	T	3: 79,729,961 (GRCm39)	L263Q	probably damaging	Het
Tpra1	T	C	6: 88,886,324 (GRCm39)	V101A	probably damaging	Het
Troap	T	C	15: 98,973,281 (GRCm39)	S16P	probably benign	Het
Ttn	T	C	2: 76,543,915 (GRCm39)	T33024A	probably benign	Het
Usp2	A	ACATGTGACCTGTTCTTCACTTACT	9: 44,000,427 (GRCm39)		probably benign	Het
Was	CTCCTCCT	C	X: 7,952,470 (GRCm39)		probably null	Het
Zfp672	A	G	11: 58,206,938 (GRCm39)	V461A	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
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
X0067:Lipa	UTSW	19	34,486,420 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAAAATCCCTTGCCCTATTCATG -3'
(R):5'- AATTCGGCAGGAATGCTGGG -3'

Sequencing Primer
(F):5'- AAATCCCTTGCCCTATTCATGATTTC -3'
(R):5'- CAGGAATGCTGGGGACTTC -3'

Posted On

2019-12-04