Incidental Mutation 'R4196:Lipg'
| ID |
318581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipg
|
| Ensembl Gene |
ENSMUSG00000053846 |
| Gene Name |
lipase, endothelial |
| Synonyms |
EL, endothelial lipase, mEDL, 3110013K01Rik |
| MMRRC Submission |
041027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R4196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
75072393-75094334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75078902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 450
(R450H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066532]
|
| AlphaFold |
Q9WVG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066532
AA Change: R450H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066536
Gene: ENSMUSG00000053846
AA Change: R450H
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,392,409 (GRCm39) |
K472E |
possibly damaging |
Het |
| Aup1 |
T |
C |
6: 83,032,211 (GRCm39) |
V126A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,958,200 (GRCm39) |
Y1014C |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,123,684 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,154,382 (GRCm39) |
|
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,337,209 (GRCm39) |
N221K |
possibly damaging |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,755,353 (GRCm39) |
N1295K |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,451 (GRCm39) |
L450P |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,383,014 (GRCm39) |
D328N |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gulo |
G |
T |
14: 66,225,702 (GRCm39) |
P375T |
possibly damaging |
Het |
| Hspd1 |
T |
C |
1: 55,126,068 (GRCm39) |
M11V |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,598,671 (GRCm39) |
T243A |
probably benign |
Het |
| Lrp3 |
T |
A |
7: 34,902,835 (GRCm39) |
S504C |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,488,556 (GRCm39) |
V564A |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,138 (GRCm39) |
T110A |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,388,582 (GRCm39) |
T174A |
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,122,002 (GRCm38) |
T289S |
possibly damaging |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,213 (GRCm39) |
T222A |
probably damaging |
Het |
| Rhbdd3 |
G |
T |
11: 5,049,460 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
C |
A |
11: 87,479,598 (GRCm39) |
D239E |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,083,604 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
T |
A |
17: 85,368,306 (GRCm39) |
W525R |
probably damaging |
Het |
| Trim75 |
A |
G |
8: 65,435,416 (GRCm39) |
S345P |
probably damaging |
Het |
| Usp5 |
C |
T |
6: 124,801,901 (GRCm39) |
E72K |
possibly damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,237 (GRCm39) |
M226K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,160,457 (GRCm39) |
V697E |
probably damaging |
Het |
| Zbtb9 |
C |
T |
17: 27,192,853 (GRCm39) |
T86I |
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 |
|
R0094:Lipg
|
UTSW |
18 |
75,078,917 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTCCAGAAGCCCTTATTTGG -3'
(R):5'- GAATGAGATCAGCCTCGGTC -3'
Sequencing Primer
(F):5'- GGAGTCATAGTCCTTGCACAGTCAG -3'
(R):5'- TCTCACCTTGCAGAGTGGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation