Incidental Mutation 'R5713:Lipa'
ID 451028
Institutional Source Beutler Lab
Gene Symbol Lipa
Ensembl Gene ENSMUSG00000024781
Gene Name lysosomal acid lipase A
Synonyms Lal, Lip1, Lip-1
MMRRC Submission 043335-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5713 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 34469718-34504874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34500832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 71 (H71Q)
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: H71Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000053270
Gene: ENSMUSG00000024781
AA Change: H71Q

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: H71Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000136967
Gene: ENSMUSG00000024781
AA Change: H71Q

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 0.0682 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (56/57)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,889,414 (GRCm39) Y431* probably null Het
Abtb3 A T 10: 85,487,516 (GRCm39) I995F probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arid1b C A 17: 5,387,091 (GRCm39) R1515S probably damaging Het
Atp5mc3 A G 2: 73,739,651 (GRCm39) V63A probably benign Het
Bmp6 C T 13: 38,682,928 (GRCm39) P473S probably damaging Het
Casp3 C A 8: 47,089,349 (GRCm39) T199K probably damaging Het
Ccl3 C T 11: 83,540,066 (GRCm39) C13Y possibly damaging Het
Cdc42bpa T C 1: 179,911,975 (GRCm39) S518P probably benign Het
Clic3 A T 2: 25,348,179 (GRCm39) I109F probably damaging Het
Dnah9 T A 11: 65,916,049 (GRCm39) D2301V possibly damaging Het
Gm26627 A G 6: 29,507,850 (GRCm39) probably benign Het
Gm4887 A T 7: 104,471,000 (GRCm39) noncoding transcript Het
Hc A C 2: 34,903,543 (GRCm39) I1037S probably damaging Het
Il2rb A G 15: 78,376,048 (GRCm39) M1T probably null Het
Ing5 T A 1: 93,740,452 (GRCm39) D124E probably benign Het
Jak2 A G 19: 29,248,793 (GRCm39) E90G probably damaging Het
Kalrn A T 16: 33,836,949 (GRCm39) I522N probably benign Het
Lmnb2 C T 10: 80,741,921 (GRCm39) V57M probably damaging Het
Mllt3 A T 4: 87,759,448 (GRCm39) M200K probably benign Het
Mtpap G A 18: 4,396,280 (GRCm39) S524N probably benign Het
Mup21 C G 4: 62,068,511 (GRCm39) E52Q probably damaging Het
Nasp A G 4: 116,471,558 (GRCm39) F90L probably benign Het
Nr1d1 T C 11: 98,661,237 (GRCm39) D343G probably benign Het
Otop2 T A 11: 115,219,870 (GRCm39) F237I probably damaging Het
Pax4 A G 6: 28,446,184 (GRCm39) I103T probably damaging Het
Pde4a T A 9: 21,114,813 (GRCm39) S430T probably damaging Het
Phf20l1 A G 15: 66,508,669 (GRCm39) N843D possibly damaging Het
Pla2g7 T A 17: 43,905,183 (GRCm39) M37K probably benign Het
Plcb3 T C 19: 6,935,060 (GRCm39) I864V probably damaging Het
Prr16 A G 18: 51,435,910 (GRCm39) T130A probably damaging Het
Rbm24 A G 13: 46,582,780 (GRCm39) D233G probably damaging Het
Rps29 C A 12: 69,205,502 (GRCm39) R32L probably benign Het
Serpind1 A G 16: 17,154,851 (GRCm39) E226G probably damaging Het
Siglecg A T 7: 43,058,226 (GRCm39) I38F probably damaging Het
Slc26a8 T A 17: 28,880,853 (GRCm39) M308L probably benign Het
Supv3l1 A G 10: 62,266,283 (GRCm39) V631A possibly damaging Het
Tcf12 T C 9: 71,792,545 (GRCm39) *58W probably null Het
Trgc2 T A 13: 19,491,515 (GRCm39) probably benign Het
Usp34 T A 11: 23,293,515 (GRCm39) V203E possibly damaging Het
Vmn2r108 A G 17: 20,691,290 (GRCm39) L411P probably damaging Het
Zfp874a A T 13: 67,597,476 (GRCm39) D42E probably benign 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
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'- GGAATGTGACCTTAGAACCCAG -3'
(R):5'- AATCTTGGTTACTAGATGGAGCAG -3'

Sequencing Primer
(F):5'- TGTGACCTTAGAACCCAGTAGAAATG -3'
(R):5'- GCAGAATAAAGCTTTGTTTTCTGCC -3'
Posted On 2017-01-03