Mutagenetix > Incidental Mutation

Incidental Mutation 'R2271:Lipa'

242525

Institutional Source

Beutler Lab

Gene Symbol

Lipa

Ensembl Gene

ENSMUSG00000024781

Gene Name

lysosomal acid lipase A

Synonyms

Lal, Lip1, Lip-1

MMRRC Submission

040271-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2271 (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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,857,575 (GRCm39)	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,449,699 (GRCm39)	K574*	probably null	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
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc146	C	A	5: 21,604,719 (GRCm39)	D40Y	probably benign	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	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
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532 (GRCm39)	D612G	probably damaging	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cops6	A	T	5: 138,159,403 (GRCm39)	N10I	probably benign	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27a1	A	G	1: 74,775,846 (GRCm39)	N344D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,238,165 (GRCm39)	D109V	probably damaging	Het
Disp3	C	T	4: 148,356,059 (GRCm39)	R267Q	possibly damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Dnajb14	G	A	3: 137,591,141 (GRCm39)	G31S	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Efcab6	T	A	15: 83,831,200 (GRCm39)	R571S	probably benign	Het
Emsy	T	G	7: 98,275,830 (GRCm39)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	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
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Hps6	C	T	19: 45,994,121 (GRCm39)	A686V	possibly damaging	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Mocs1	A	T	17: 49,756,137 (GRCm39)	K198M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,263,366 (GRCm39)	I154T	probably benign	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Neu3	G	C	7: 99,462,650 (GRCm39)	R358G	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1n1	G	A	2: 36,749,637 (GRCm39)	S241F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Or8j3	A	G	2: 86,028,161 (GRCm39)	F312L	probably benign	Het
Pik3c2b	T	C	1: 133,031,166 (GRCm39)	S1491P	probably benign	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,277,948 (GRCm39)	E383K	probably benign	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Ptprh	C	A	7: 4,606,132 (GRCm39)		probably benign	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Sacs	A	G	14: 61,442,109 (GRCm39)	H1385R	probably benign	Het
Sec24a	A	G	11: 51,607,277 (GRCm39)	S656P	possibly damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Sin3b	T	A	8: 73,460,047 (GRCm39)	N211K	probably benign	Het
Slc22a2	A	T	17: 12,805,692 (GRCm39)	M148L	probably benign	Het
Slc3a1	G	A	17: 85,371,220 (GRCm39)	V591I	probably benign	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,014,113 (GRCm39)	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Sphkap	T	A	1: 83,234,942 (GRCm39)	D1628V	probably damaging	Het
Themis3	C	T	17: 66,862,699 (GRCm39)	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
U2surp	T	C	9: 95,373,473 (GRCm39)	E232G	possibly damaging	Het
Usp25	T	A	16: 76,873,317 (GRCm39)	F458L	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,091,088 (GRCm39)	T227A	probably damaging	Het
Zcchc12	C	T	X: 35,462,118 (GRCm39)	T345M	possibly damaging	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
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	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
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
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'- TGGTTTTAAATCCCTGACAAGC -3'
(R):5'- GCATCATGTTTGCTGAGAAGG -3'

Sequencing Primer
(F):5'- CCTGACAAGCTTTACAACTTTTCAAG -3'
(R):5'- TTGCTGAGAAGGTTGGAGCTAAC -3'

Posted On

2014-10-16