Incidental Mutation 'R0094:Lipg'
| ID |
17967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipg
|
| Ensembl Gene |
ENSMUSG00000053846 |
| Gene Name |
lipase, endothelial |
| Synonyms |
EL, endothelial lipase, mEDL, 3110013K01Rik |
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
75072393-75094334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75078917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 445
(Y445C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066532]
|
| AlphaFold |
Q9WVG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066532
AA Change: Y445C
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000066536
Gene: ENSMUSG00000053846
AA Change: Y445C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
20 |
344 |
3.1e-108 |
PFAM |
|
LH2
|
347 |
483 |
5.66e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 84.5%
- 3x: 75.9%
- 10x: 43.5%
- 20x: 12.9%
|
| Validation Efficiency |
86% (51/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased circulating total cholesterol and HDL as well as decreased monocyte binding to vascular endothelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,203,427 (GRCm39) |
|
probably benign |
Het |
| 4930432E11Rik |
A |
G |
7: 29,260,236 (GRCm39) |
|
noncoding transcript |
Het |
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,277,171 (GRCm39) |
D2034E |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,655 (GRCm39) |
R178G |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Ctsj |
A |
C |
13: 61,151,519 (GRCm39) |
|
probably null |
Het |
| Dap3 |
T |
A |
3: 88,834,335 (GRCm39) |
M294L |
probably benign |
Het |
| Ddias |
T |
C |
7: 92,509,108 (GRCm39) |
N269S |
possibly damaging |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Eif2b1 |
A |
G |
5: 124,709,829 (GRCm39) |
F250L |
probably benign |
Het |
| Emc1 |
T |
A |
4: 139,087,796 (GRCm39) |
F100Y |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,065,344 (GRCm39) |
M112L |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,172,042 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,846,200 (GRCm39) |
Y897H |
probably damaging |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Mybpc2 |
A |
G |
7: 44,166,328 (GRCm39) |
Y221H |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,344,468 (GRCm39) |
I2323N |
possibly damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Otol1 |
G |
A |
3: 69,926,016 (GRCm39) |
A64T |
probably benign |
Het |
| Pcdh8 |
G |
T |
14: 80,005,588 (GRCm39) |
D933E |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rad54b |
T |
C |
4: 11,599,681 (GRCm39) |
V72A |
possibly damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,016,338 (GRCm39) |
|
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Serping1 |
T |
G |
2: 84,603,620 (GRCm39) |
R140S |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,221,310 (GRCm39) |
F252S |
probably benign |
Het |
| Spata45 |
A |
G |
1: 190,772,059 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,896,635 (GRCm39) |
S1174P |
probably benign |
Het |
| Ss18l2 |
T |
C |
9: 121,541,699 (GRCm39) |
L64P |
probably benign |
Het |
| Tmem81 |
A |
G |
1: 132,435,787 (GRCm39) |
I198V |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,894,929 (GRCm38) |
|
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,708,791 (GRCm39) |
T130I |
probably benign |
Het |
|
| Other mutations in Lipg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01705:Lipg
|
APN |
18 |
75,081,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02340:Lipg
|
APN |
18 |
75,093,946 (GRCm39) |
splice site |
probably null |
|
|
IGL02804:Lipg
|
APN |
18 |
75,082,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
listube
|
UTSW |
18 |
75,090,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0172:Lipg
|
UTSW |
18 |
75,081,245 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0316:Lipg
|
UTSW |
18 |
75,094,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0535:Lipg
|
UTSW |
18 |
75,087,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0567:Lipg
|
UTSW |
18 |
75,090,440 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1171:Lipg
|
UTSW |
18 |
75,078,894 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1554:Lipg
|
UTSW |
18 |
75,081,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1611:Lipg
|
UTSW |
18 |
75,081,130 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1916:Lipg
|
UTSW |
18 |
75,094,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2125:Lipg
|
UTSW |
18 |
75,078,956 (GRCm39) |
missense |
probably benign |
|
|
R4196:Lipg
|
UTSW |
18 |
75,078,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Lipg
|
UTSW |
18 |
75,081,107 (GRCm39) |
nonsense |
probably null |
|
|
R5186:Lipg
|
UTSW |
18 |
75,094,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5424:Lipg
|
UTSW |
18 |
75,087,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5708:Lipg
|
UTSW |
18 |
75,088,505 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6416:Lipg
|
UTSW |
18 |
75,090,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6493:Lipg
|
UTSW |
18 |
75,081,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6601:Lipg
|
UTSW |
18 |
75,081,275 (GRCm39) |
missense |
probably benign |
|
|
R7199:Lipg
|
UTSW |
18 |
75,088,655 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7857:Lipg
|
UTSW |
18 |
75,078,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:Lipg
|
UTSW |
18 |
75,081,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9143:Lipg
|
UTSW |
18 |
75,087,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Lipg
|
UTSW |
18 |
75,074,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation