Incidental Mutation 'R6601:Lipg'
ID |
525303 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lipg
|
Ensembl Gene |
ENSMUSG00000053846 |
Gene Name |
lipase, endothelial |
Synonyms |
EL, endothelial lipase, mEDL, 3110013K01Rik |
MMRRC Submission |
044725-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R6601 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
75072393-75094334 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75081275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 269
(M269V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066532]
|
AlphaFold |
Q9WVG5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066532
AA Change: M269V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066536 Gene: ENSMUSG00000053846 AA Change: M269V
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
20 |
344 |
3.1e-108 |
PFAM |
LH2
|
347 |
483 |
5.66e-6 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
Validation Efficiency |
98% (41/42) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
T |
G |
1: 58,102,665 (GRCm39) |
L527R |
probably damaging |
Het |
Ccdc172 |
T |
A |
19: 58,525,723 (GRCm39) |
C194S |
possibly damaging |
Het |
Ccnb1ip1 |
G |
T |
14: 51,031,121 (GRCm39) |
T64K |
possibly damaging |
Het |
Ces1b |
T |
C |
8: 93,806,109 (GRCm39) |
E44G |
probably benign |
Het |
Coro2a |
A |
T |
4: 46,543,421 (GRCm39) |
Y317* |
probably null |
Het |
Csnk1a1 |
T |
C |
18: 61,711,829 (GRCm39) |
F281S |
probably damaging |
Het |
Ddx28 |
A |
T |
8: 106,737,248 (GRCm39) |
|
probably null |
Het |
Dtnbp1 |
A |
G |
13: 45,084,721 (GRCm39) |
|
probably null |
Het |
Eif2s1 |
T |
C |
12: 78,930,126 (GRCm39) |
I258T |
possibly damaging |
Het |
Elp3 |
T |
C |
14: 65,784,488 (GRCm39) |
*554W |
probably null |
Het |
Golga1 |
T |
C |
2: 38,910,118 (GRCm39) |
M610V |
probably damaging |
Het |
Hc |
T |
A |
2: 34,935,906 (GRCm39) |
K156N |
probably benign |
Het |
Hcls1 |
G |
A |
16: 36,782,748 (GRCm39) |
G428D |
probably benign |
Het |
Il16 |
T |
C |
7: 83,371,677 (GRCm39) |
D43G |
probably damaging |
Het |
Klhl3 |
C |
A |
13: 58,242,930 (GRCm39) |
K91N |
probably damaging |
Het |
L3mbtl1 |
C |
T |
2: 162,790,095 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
T |
C |
2: 31,810,544 (GRCm39) |
F805L |
possibly damaging |
Het |
Ly75 |
G |
A |
2: 60,148,720 (GRCm39) |
T1203I |
probably benign |
Het |
Mat1a |
T |
A |
14: 40,827,561 (GRCm39) |
V5E |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,548,866 (GRCm39) |
L5809Q |
probably benign |
Het |
Naip6 |
G |
A |
13: 100,420,266 (GRCm39) |
R1335C |
probably benign |
Het |
Ndufaf3 |
T |
C |
9: 108,443,416 (GRCm39) |
H128R |
probably benign |
Het |
Nphp4 |
A |
T |
4: 152,587,464 (GRCm39) |
|
probably null |
Het |
Or8u8 |
T |
A |
2: 86,012,309 (GRCm39) |
I49F |
probably damaging |
Het |
Otop3 |
T |
C |
11: 115,230,673 (GRCm39) |
V148A |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,747 (GRCm39) |
|
probably benign |
Het |
Pcsk5 |
T |
G |
19: 17,488,744 (GRCm39) |
R1025S |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
Polr1d |
T |
A |
5: 147,015,359 (GRCm39) |
L14* |
probably null |
Het |
Rab26 |
T |
A |
17: 24,748,595 (GRCm39) |
K270* |
probably null |
Het |
Rasgef1c |
T |
A |
11: 49,862,246 (GRCm39) |
N378K |
probably damaging |
Het |
Rpl7a |
T |
C |
2: 26,801,536 (GRCm39) |
V76A |
probably benign |
Het |
Samd9l |
T |
A |
6: 3,377,229 (GRCm39) |
I11F |
possibly damaging |
Het |
Smarca2 |
C |
A |
19: 26,631,777 (GRCm39) |
Q531K |
probably benign |
Het |
Styxl1 |
C |
G |
5: 135,784,350 (GRCm39) |
G211A |
probably benign |
Het |
Taar9 |
T |
C |
10: 23,984,945 (GRCm39) |
Y163C |
probably damaging |
Het |
Tmem198 |
T |
A |
1: 75,457,017 (GRCm39) |
F48I |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,595,073 (GRCm39) |
N12032I |
probably damaging |
Het |
Ubr7 |
T |
A |
12: 102,727,723 (GRCm39) |
C82S |
probably damaging |
Het |
Wwtr1 |
T |
C |
3: 57,483,159 (GRCm39) |
E48G |
possibly damaging |
Het |
Zfp108 |
T |
C |
7: 23,960,819 (GRCm39) |
V470A |
probably damaging |
Het |
Zfp612 |
C |
A |
8: 110,816,181 (GRCm39) |
Q424K |
possibly damaging |
Het |
Zscan4-ps1 |
T |
C |
7: 10,802,761 (GRCm39) |
T13A |
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 |
|
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 |
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'- CCTTTGAAAGGCATGCCAGC -3'
(R):5'- AGTTCCTCTGTATCTTAGTAGGAGC -3'
Sequencing Primer
(F):5'- ATGCCAGCCCGGGTTTTTAAATAC -3'
(R):5'- CTTAGTAGGAGCTTGGAATACCCC -3'
|
Posted On |
2018-06-22 |