Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02517:Lipa'

296846

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02517

Quality Score

Status

Chromosome

Chromosomal Location

34469718-34504874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34471522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 351 (I351S)

Ref Sequence

ENSEMBL: ENSMUSP00000136967 (fasta)

Gene Model

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

AlphaFold

Q9Z0M5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049572
AA Change: I351S

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053270
Gene: ENSMUSG00000024781
AA Change: I351S

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

possibly damaging
Transcript: ENSMUST00000178114
AA Change: I351S

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136967
Gene: ENSMUSG00000024781
AA Change: I351S

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	T	G	4: 49,380,647 (GRCm39)	M244L	possibly damaging	Het
Acnat2	A	T	4: 49,380,639 (GRCm39)	C228*	probably null	Het
Adam24	T	C	8: 41,133,218 (GRCm39)	S229P	probably damaging	Het
Alpk3	T	C	7: 80,727,643 (GRCm39)	S258P	probably benign	Het
Atad2b	A	G	12: 5,068,037 (GRCm39)	T1012A	probably benign	Het
Bltp1	A	G	3: 37,013,017 (GRCm39)	E1899G	probably damaging	Het
C4b	A	T	17: 34,953,382 (GRCm39)	S1034T	probably benign	Het
Cd300ld2	T	A	11: 114,901,249 (GRCm39)	H277L	possibly damaging	Het
Chrna4	C	T	2: 180,670,926 (GRCm39)	V277I	probably benign	Het
Col3a1	A	G	1: 45,364,963 (GRCm39)		probably null	Het
Dpep2	C	T	8: 106,715,388 (GRCm39)	V369M	probably damaging	Het
Eml2	T	A	7: 18,940,055 (GRCm39)	N815K	probably damaging	Het
Enpp3	A	G	10: 24,685,746 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,390,413 (GRCm39)	V86A	probably benign	Het
Hivep2	C	T	10: 14,006,926 (GRCm39)	P1175S	probably benign	Het
Hydin	T	C	8: 111,293,604 (GRCm39)	I3517T	probably benign	Het
Ift172	T	A	5: 31,410,992 (GRCm39)		probably null	Het
Jmy	A	G	13: 93,589,316 (GRCm39)	I647T	probably benign	Het
Kifap3	T	A	1: 163,653,440 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,670,915 (GRCm39)		probably null	Het
Ltbp2	G	T	12: 84,832,091 (GRCm39)	A1631D	probably benign	Het
Masp2	A	G	4: 148,698,477 (GRCm39)	I519M	probably damaging	Het
Mfsd6	A	G	1: 52,702,436 (GRCm39)		probably benign	Het
Numa1	T	G	7: 101,661,216 (GRCm39)	D1846E	probably benign	Het
Oog3	A	T	4: 143,885,920 (GRCm39)	I226K	probably damaging	Het
Or11h6	A	G	14: 50,880,658 (GRCm39)	T301A	probably benign	Het
Or5an6	A	T	19: 12,372,265 (GRCm39)	I213F	probably benign	Het
Or8b3b	T	C	9: 38,584,209 (GRCm39)	Y177C	probably damaging	Het
Or8g53	T	G	9: 39,683,800 (GRCm39)	T99P	probably damaging	Het
Or9s13	A	T	1: 92,548,183 (GRCm39)	Y185F	probably benign	Het
Pkdcc	T	C	17: 83,531,295 (GRCm39)	S435P	probably damaging	Het
Ppm1g	A	G	5: 31,365,425 (GRCm39)	Y70H	probably damaging	Het
Prcc	C	T	3: 87,776,984 (GRCm39)	S330N	probably damaging	Het
Ror2	A	T	13: 53,272,876 (GRCm39)	L251Q	probably damaging	Het
Scn11a	A	G	9: 119,621,464 (GRCm39)	L651P	probably damaging	Het
Skint6	A	T	4: 112,805,737 (GRCm39)		probably benign	Het
Slc23a4	A	G	6: 34,931,917 (GRCm39)	F186L	probably benign	Het
Slc30a8	A	T	15: 52,198,530 (GRCm39)	D325V	probably benign	Het
Son	C	T	16: 91,452,099 (GRCm39)	T282M	possibly damaging	Het
Tas2r118	A	T	6: 23,969,891 (GRCm39)	F57I	probably damaging	Het
Tcf7l1	A	G	6: 72,606,966 (GRCm39)	S447P	probably benign	Het
Thsd1	T	A	8: 22,733,454 (GRCm39)	V167E	probably damaging	Het
Tle3	T	C	9: 61,322,063 (GRCm39)	V696A	probably damaging	Het
Tmem67	A	T	4: 12,069,463 (GRCm39)	I405K	possibly damaging	Het
Tmem71	A	C	15: 66,413,466 (GRCm39)	V202G	probably benign	Het
Trim6	T	C	7: 103,881,564 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,721,535 (GRCm39)		probably benign	Het
Ubr1	A	C	2: 120,694,854 (GRCm39)	C1693G	possibly damaging	Het
Ush2a	G	A	1: 188,648,195 (GRCm39)	R4600H	probably damaging	Het
Vil1	A	G	1: 74,465,851 (GRCm39)	I547M	probably benign	Het
Vmn1r219	A	T	13: 23,347,266 (GRCm39)	I152L	probably benign	Het
Vmn1r26	A	G	6: 57,986,127 (GRCm39)	F21L	possibly damaging	Het
Vmn2r45	T	A	7: 8,486,185 (GRCm39)	K368*	probably null	Het
Vmn2r68	C	T	7: 84,871,153 (GRCm39)	W710*	probably null	Het
Zfp808	T	A	13: 62,321,032 (GRCm39)	*754R	probably null	Het
Zyg11b	C	T	4: 108,123,515 (GRCm39)	E151K	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
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
RF012:Lipa	UTSW	19	34,486,498 (GRCm39)	missense	probably damaging	1.00
X0067:Lipa	UTSW	19	34,486,420 (GRCm39)	nonsense	probably null

Posted On

2015-04-16