Incidental Mutation 'R2189:Lipa'
| ID |
237997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipa
|
| Ensembl Gene |
ENSMUSG00000024781 |
| Gene Name |
lysosomal acid lipase A |
| Synonyms |
Lal, Lip1, Lip-1 |
| MMRRC Submission |
040191-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34469718-34504874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34502199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 15
(L15Q)
|
| 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: L15Q
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000053270
Gene: ENSMUSG00000024781
AA Change: L15Q
| 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 benign
Transcript: ENSMUST00000178114
AA Change: L15Q
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000136967
Gene: ENSMUSG00000024781
AA Change: L15Q
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
| Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
| Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
| Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
| Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
| Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
| H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
| Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
| Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
| Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
| Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
| Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
| V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
| Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
possibly 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAACTGTAGCTTGGCATCTG -3'
(R):5'- AAACAGATTGATGTCCCCGCC -3'
Sequencing Primer
(F):5'- CACTTGTCATCACGGCAT -3'
(R):5'- AGAGACCGCTGGAGTCGTTTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation