Incidental Mutation 'IGL02469:Lipa'
| ID |
294671 |
| 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)
|
| Stock # |
IGL02469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34469718-34504874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34471435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 380
(D380G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049572]
[ENSMUST00000178114]
|
| AlphaFold |
Q9Z0M5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049572
AA Change: D380G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053270
Gene: ENSMUSG00000024781
AA Change: D380G
| 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: D380G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136967
Gene: ENSMUSG00000024781
AA Change: D380G
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,645,074 (GRCm39) |
Q975L |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,783,522 (GRCm39) |
Y301C |
probably damaging |
Het |
| Akr7a5 |
T |
A |
4: 139,041,492 (GRCm39) |
S134T |
probably damaging |
Het |
| Aldh4a1 |
C |
T |
4: 139,375,472 (GRCm39) |
T527I |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,676,676 (GRCm39) |
V146A |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,640 (GRCm39) |
|
probably benign |
Het |
| Caml |
T |
C |
13: 55,776,390 (GRCm39) |
S210P |
probably damaging |
Het |
| Casp1 |
A |
C |
9: 5,303,105 (GRCm39) |
R186S |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,807,557 (GRCm39) |
Q361L |
possibly damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,290 (GRCm39) |
T173S |
probably benign |
Het |
| Commd6 |
A |
G |
14: 101,874,463 (GRCm39) |
V47A |
probably damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,572,138 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,863,215 (GRCm39) |
D721G |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,339,532 (GRCm39) |
S332G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,227,909 (GRCm39) |
E1834G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,222,460 (GRCm39) |
L1034Q |
probably damaging |
Het |
| Gtf2ird2 |
C |
T |
5: 134,220,088 (GRCm39) |
T22M |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,411 (GRCm39) |
L389P |
probably damaging |
Het |
| Marchf5 |
T |
G |
19: 37,194,674 (GRCm39) |
W111G |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,499 (GRCm39) |
T7A |
possibly damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,627,774 (GRCm39) |
I391N |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,114 (GRCm39) |
S544G |
probably benign |
Het |
| Slc26a9 |
A |
G |
1: 131,690,674 (GRCm39) |
K530E |
probably damaging |
Het |
| Spaca3 |
G |
A |
11: 80,754,911 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,920,565 (GRCm39) |
S544G |
probably benign |
Het |
| Tctn3 |
T |
C |
19: 40,585,967 (GRCm39) |
E526G |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,523,314 (GRCm39) |
I466K |
probably benign |
Het |
| Ttbk1 |
A |
G |
17: 46,781,556 (GRCm39) |
V399A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,435 (GRCm39) |
L189P |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,751,547 (GRCm39) |
L530* |
probably null |
Het |
| Yipf3 |
T |
C |
17: 46,561,384 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Lipa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
Incidental Mutation