Incidental Mutation 'R9143:Lipg'
| ID |
694468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipg
|
| Ensembl Gene |
ENSMUSG00000053846 |
| Gene Name |
lipase, endothelial |
| Synonyms |
EL, endothelial lipase, mEDL, 3110013K01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R9143 (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 75087272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 183
(K183R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066532]
|
| AlphaFold |
Q9WVG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066532
AA Change: K183R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000066536
Gene: ENSMUSG00000053846
AA Change: K183R
| 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 |
0.0669 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (44/44) |
| 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 |
|---|
| 9830107B12Rik |
T |
C |
17: 48,452,605 (GRCm39) |
I111M |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,259,715 (GRCm39) |
I292V |
probably damaging |
Het |
| Atl3 |
T |
C |
19: 7,509,408 (GRCm39) |
S379P |
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,688 (GRCm39) |
H527Y |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,912,707 (GRCm39) |
I244F |
probably damaging |
Het |
| Clec16a |
C |
A |
16: 10,428,964 (GRCm39) |
S449R |
probably damaging |
Het |
| Cngb3 |
T |
A |
4: 19,375,190 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
T |
2: 13,337,276 (GRCm39) |
|
probably benign |
Het |
| Dsp |
C |
A |
13: 38,377,337 (GRCm39) |
S1707R |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,347,004 (GRCm39) |
Q162L |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,316,502 (GRCm39) |
N69S |
probably benign |
Het |
| Galnt10 |
C |
T |
11: 57,612,146 (GRCm39) |
T62I |
probably benign |
Het |
| Gm19668 |
T |
C |
10: 77,634,960 (GRCm39) |
D3G |
unknown |
Het |
| Hace1 |
T |
A |
10: 45,562,764 (GRCm39) |
F760I |
probably damaging |
Het |
| Il20rb |
A |
G |
9: 100,356,936 (GRCm39) |
Y65H |
probably damaging |
Het |
| Insl5 |
C |
A |
4: 102,883,841 (GRCm39) |
V27L |
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,715,930 (GRCm39) |
D425G |
probably benign |
Het |
| Lrrc59 |
T |
A |
11: 94,525,456 (GRCm39) |
L84Q |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,835,750 (GRCm39) |
F1811I |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,062,883 (GRCm39) |
|
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,121,792 (GRCm39) |
S371P |
probably benign |
Het |
| Nin |
A |
G |
12: 70,137,349 (GRCm39) |
S76P |
|
Het |
| Nuak1 |
C |
T |
10: 84,213,951 (GRCm39) |
|
probably null |
Het |
| Or8b47 |
A |
T |
9: 38,427,917 (GRCm39) |
|
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,055,722 (GRCm39) |
I109F |
possibly damaging |
Het |
| Pld1 |
A |
G |
3: 28,132,643 (GRCm39) |
|
probably benign |
Het |
| Rcvrn |
T |
C |
11: 67,590,890 (GRCm39) |
F158S |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,885,409 (GRCm39) |
T200A |
probably benign |
Het |
| Slc6a1 |
G |
T |
6: 114,292,503 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,934,906 (GRCm39) |
T704M |
probably benign |
Het |
| Stxbp1 |
A |
G |
2: 32,688,157 (GRCm39) |
S503P |
probably damaging |
Het |
| Susd5 |
A |
T |
9: 113,924,879 (GRCm39) |
E254V |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,097,983 (GRCm39) |
S529P |
possibly damaging |
Het |
| Tigd2 |
T |
A |
6: 59,188,310 (GRCm39) |
N392K |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,842,220 (GRCm39) |
L525P |
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,514,824 (GRCm39) |
M1127V |
probably damaging |
Het |
| Top2a |
T |
A |
11: 98,900,705 (GRCm39) |
E585V |
probably benign |
Het |
| Usp19 |
T |
G |
9: 108,375,398 (GRCm39) |
L847R |
probably damaging |
Het |
| Vta1 |
T |
C |
10: 14,551,776 (GRCm39) |
H141R |
possibly damaging |
Het |
| Zfp950 |
G |
T |
19: 61,108,778 (GRCm39) |
P102T |
probably benign |
Het |
| Zzz3 |
T |
C |
3: 152,163,908 (GRCm39) |
I869T |
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 |
|
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 |
|
Z1177:Lipg
|
UTSW |
18 |
75,074,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAGGGCACAGCTAACAC -3'
(R):5'- GGCCCTTCTTTTATCATGATGG -3'
Sequencing Primer
(F):5'- GAAGGGCACAGCTAACACAACTC -3'
(R):5'- CCTTCTTTTATCATGATGGGCTTG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation