Incidental Mutation 'R6381:Lipa'
ID 515347
Institutional Source Beutler Lab
Gene Symbol Lipa
Ensembl Gene ENSMUSG00000024781
Gene Name lysosomal acid lipase A
Synonyms Lal, Lip1, Lip-1
MMRRC Submission 044530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6381 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 34469718-34504874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34502146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 33 (M33L)
Ref Sequence ENSEMBL: ENSMUSP00000136967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049572] [ENSMUST00000178114]
AlphaFold Q9Z0M5
Predicted Effect probably benign
Transcript: ENSMUST00000049572
AA Change: M33L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000053270
Gene: ENSMUSG00000024781
AA Change: M33L

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000178114
AA Change: M33L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000136967
Gene: ENSMUSG00000024781
AA Change: M33L

DomainStartEndE-ValueType
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 0.6366 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 97% (56/58)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,788 (GRCm39) M365L probably damaging Het
Aars2 A G 17: 45,829,471 (GRCm39) E786G probably benign Het
Adamts12 G T 15: 11,257,080 (GRCm39) V478F possibly damaging Het
Akr1c21 T A 13: 4,624,183 (GRCm39) D12E probably damaging Het
Aplf A T 6: 87,635,959 (GRCm39) M118K probably damaging Het
Apobec1 A G 6: 122,555,890 (GRCm39) L189P probably damaging Het
BC061237 A G 14: 44,741,713 (GRCm39) Q152R possibly damaging Het
Bche A G 3: 73,609,132 (GRCm39) I98T probably benign Het
Cc2d2a G T 5: 43,873,118 (GRCm39) R983L possibly damaging Het
Ccnd3 T C 17: 47,816,149 (GRCm39) probably benign Het
Cd74 G T 18: 60,944,435 (GRCm39) C215F probably damaging Het
Cep97 C T 16: 55,742,534 (GRCm39) A138T probably damaging Het
Ces1e T A 8: 93,944,206 (GRCm39) N204I probably damaging Het
Dicer1 T C 12: 104,662,721 (GRCm39) D1620G probably benign Het
Dnah17 A G 11: 118,020,011 (GRCm39) V12A probably benign Het
Dstyk T A 1: 132,384,503 (GRCm39) probably null Het
Elapor1 T C 3: 108,389,130 (GRCm39) K222E possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Entr1 A G 2: 26,275,093 (GRCm39) probably null Het
Gm10570 G T 4: 130,202,021 (GRCm39) probably benign Het
Gm7145 C T 1: 117,913,669 (GRCm39) Q184* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gtse1 G A 15: 85,746,349 (GRCm39) R55H probably benign Het
Hdac4 G T 1: 91,912,247 (GRCm39) Q381K possibly damaging Het
Ifit3b T C 19: 34,589,871 (GRCm39) I349T probably benign Het
Inpp5a A T 7: 138,980,589 (GRCm39) D9V probably benign Het
Irs1 T C 1: 82,265,405 (GRCm39) N937S possibly damaging Het
Kcna4 T C 2: 107,125,317 (GRCm39) M17T probably benign Het
Marchf6 G T 15: 31,467,838 (GRCm39) Q790K probably benign Het
Mccc1 G A 3: 36,030,876 (GRCm39) P397S probably benign Het
Mrgprb2 T C 7: 48,202,138 (GRCm39) I196V probably benign Het
Myh15 T A 16: 48,921,844 (GRCm39) S463R probably damaging Het
Nab2 T C 10: 127,500,220 (GRCm39) K291E probably damaging Het
Neto2 T C 8: 86,369,138 (GRCm39) T294A probably damaging Het
Nkx1-1 T C 5: 33,591,320 (GRCm39) M1V probably null Het
Or2h2 C T 17: 37,396,977 (GRCm39) V27I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Psmd2 A G 16: 20,474,023 (GRCm39) E242G probably benign Het
Rnase12 A C 14: 51,294,551 (GRCm39) Y43D probably damaging Het
Rpl18 T A 7: 45,369,016 (GRCm39) F58I probably damaging Het
Ryr1 T G 7: 28,774,682 (GRCm39) M2313L possibly damaging Het
Scn4a G T 11: 106,211,137 (GRCm39) Q1627K probably damaging Het
Scnn1g A G 7: 121,366,722 (GRCm39) S640G probably benign Het
Sdr9c7 T A 10: 127,739,542 (GRCm39) M219K probably benign Het
Soat1 A T 1: 156,263,373 (GRCm39) M392K probably damaging Het
Spata18 G T 5: 73,832,559 (GRCm39) K337N probably damaging Het
Supt16 A G 14: 52,417,003 (GRCm39) V325A probably benign Het
Syt2 A G 1: 134,674,588 (GRCm39) E342G probably damaging Het
Tars2 A T 3: 95,661,799 (GRCm39) L37* probably null Het
Tep1 T C 14: 51,082,888 (GRCm39) D1040G probably damaging Het
Tmc8 A T 11: 117,682,426 (GRCm39) S613C probably null Het
Top3a C T 11: 60,634,849 (GRCm39) C660Y probably damaging Het
Tpsg1 C T 17: 25,591,543 (GRCm39) R48C probably damaging Het
Vmn2r57 T C 7: 41,078,242 (GRCm39) N72S probably benign Het
Whrn G A 4: 63,390,921 (GRCm39) T269I probably benign Het
Zfp759 T A 13: 67,286,969 (GRCm39) Y173* probably null Het
Other mutations in Lipa
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCAGTATCTAGTGGGGAAACTG -3'
(R):5'- AACAGATTGATGTCCCCGCC -3'

Sequencing Primer
(F):5'- AAACTGTAGCTTGGCATCTGC -3'
(R):5'- GGTTCAAGACTTTTAAAGAAGGCTC -3'
Posted On 2018-05-04