Incidental Mutation 'R1350:Lipc'
ID |
159536 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lipc
|
Ensembl Gene |
ENSMUSG00000032207 |
Gene Name |
lipase, hepatic |
Synonyms |
HL, Hpl |
MMRRC Submission |
039415-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R1350 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
70705410-70859503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70705649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 478
(H478R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034731]
[ENSMUST00000216798]
|
AlphaFold |
P27656 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034731
AA Change: H478R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000034731 Gene: ENSMUSG00000032207 AA Change: H478R
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
14 |
350 |
1.1e-136 |
PFAM |
LH2
|
353 |
488 |
4.62e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157119
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216798
AA Change: H393R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
Validation Efficiency |
95% (57/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a targeted null mutation exhibit elevated plasma total cholesterol, phospholipids, and high density lipoprotein cholesterol. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago4 |
A |
G |
4: 126,400,925 (GRCm39) |
V640A |
probably benign |
Het |
AI661453 |
C |
T |
17: 47,778,853 (GRCm39) |
Q860* |
probably null |
Het |
Atp10d |
A |
G |
5: 72,418,469 (GRCm39) |
|
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,205,950 (GRCm39) |
|
probably null |
Het |
Bivm |
T |
A |
1: 44,165,863 (GRCm39) |
N104K |
possibly damaging |
Het |
Capn15 |
A |
G |
17: 26,183,666 (GRCm39) |
S338P |
probably benign |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ccn6 |
C |
T |
10: 39,034,302 (GRCm39) |
C100Y |
probably damaging |
Het |
Col13a1 |
G |
A |
10: 61,729,848 (GRCm39) |
|
probably benign |
Het |
Crb2 |
A |
G |
2: 37,682,081 (GRCm39) |
N821D |
probably damaging |
Het |
D5Ertd579e |
T |
A |
5: 36,771,081 (GRCm39) |
I1105F |
probably damaging |
Het |
Dnaja2 |
A |
T |
8: 86,266,717 (GRCm39) |
F337I |
probably damaging |
Het |
Dntt |
C |
T |
19: 41,025,578 (GRCm39) |
|
probably benign |
Het |
Dock3 |
C |
T |
9: 106,791,831 (GRCm39) |
E1381K |
possibly damaging |
Het |
Fibp |
T |
C |
19: 5,511,419 (GRCm39) |
Y96H |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,942,226 (GRCm39) |
V85A |
probably damaging |
Het |
Gsdme |
A |
T |
6: 50,223,108 (GRCm39) |
|
probably null |
Het |
Gucy2c |
A |
T |
6: 136,720,912 (GRCm39) |
|
probably null |
Het |
Hectd1 |
A |
G |
12: 51,809,217 (GRCm39) |
V1748A |
probably benign |
Het |
Hepacam2 |
G |
A |
6: 3,467,530 (GRCm39) |
Q384* |
probably null |
Het |
Itga10 |
T |
A |
3: 96,564,793 (GRCm39) |
M961K |
probably benign |
Het |
Kcnk1 |
C |
T |
8: 126,751,967 (GRCm39) |
T191I |
probably benign |
Het |
Khdrbs1 |
G |
A |
4: 129,614,545 (GRCm39) |
P336L |
probably benign |
Het |
Klhdc2 |
T |
A |
12: 69,352,484 (GRCm39) |
|
probably null |
Het |
Lrp12 |
A |
T |
15: 39,741,646 (GRCm39) |
C356* |
probably null |
Het |
Nf1 |
T |
A |
11: 79,303,513 (GRCm39) |
C397S |
probably damaging |
Het |
Nox3 |
A |
G |
17: 3,700,396 (GRCm39) |
F439S |
probably damaging |
Het |
Or12e9 |
T |
A |
2: 87,202,701 (GRCm39) |
V275E |
probably benign |
Het |
Or13a18 |
T |
C |
7: 140,190,622 (GRCm39) |
V181A |
probably damaging |
Het |
Or3a1b |
T |
C |
11: 74,013,039 (GRCm39) |
L308P |
possibly damaging |
Het |
Or4b12 |
A |
T |
2: 90,096,690 (GRCm39) |
L28Q |
probably damaging |
Het |
Or51b17 |
A |
G |
7: 103,542,937 (GRCm39) |
W2R |
probably benign |
Het |
Or7g29 |
T |
G |
9: 19,286,710 (GRCm39) |
S156R |
possibly damaging |
Het |
Or8b37 |
G |
A |
9: 37,959,111 (GRCm39) |
V198I |
probably benign |
Het |
Pcif1 |
T |
C |
2: 164,728,687 (GRCm39) |
F288L |
probably damaging |
Het |
Prxl2b |
C |
A |
4: 154,982,585 (GRCm39) |
R107L |
probably damaging |
Het |
Skint7 |
G |
T |
4: 111,837,521 (GRCm39) |
A100S |
possibly damaging |
Het |
Ssu2 |
A |
T |
6: 112,351,807 (GRCm39) |
L306* |
probably null |
Het |
Tasp1 |
T |
C |
2: 139,899,341 (GRCm39) |
E4G |
probably damaging |
Het |
Tfb1m |
A |
T |
17: 3,595,955 (GRCm39) |
D99E |
probably benign |
Het |
Ube3b |
A |
G |
5: 114,544,198 (GRCm39) |
|
probably null |
Het |
Uox |
A |
G |
3: 146,330,330 (GRCm39) |
D162G |
probably damaging |
Het |
Usp18 |
A |
G |
6: 121,239,651 (GRCm39) |
T249A |
possibly damaging |
Het |
Vmn1r202 |
T |
C |
13: 22,685,886 (GRCm39) |
N177S |
probably benign |
Het |
Vwa2 |
T |
A |
19: 56,897,558 (GRCm39) |
M621K |
probably damaging |
Het |
Wdfy3 |
C |
A |
5: 102,046,418 (GRCm39) |
D1797Y |
probably damaging |
Het |
Ylpm1 |
A |
T |
12: 85,060,856 (GRCm39) |
|
probably benign |
Het |
Zbtb9 |
G |
A |
17: 27,193,380 (GRCm39) |
V262I |
probably benign |
Het |
|
Other mutations in Lipc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00234:Lipc
|
APN |
9 |
70,727,719 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02431:Lipc
|
APN |
9 |
70,841,750 (GRCm39) |
intron |
probably benign |
|
Immunobolic
|
UTSW |
9 |
70,730,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R0112:Lipc
|
UTSW |
9 |
70,727,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R0114:Lipc
|
UTSW |
9 |
70,711,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R0545:Lipc
|
UTSW |
9 |
70,719,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R1051:Lipc
|
UTSW |
9 |
70,709,398 (GRCm39) |
missense |
probably benign |
0.00 |
R1069:Lipc
|
UTSW |
9 |
70,730,819 (GRCm39) |
missense |
probably benign |
0.03 |
R1742:Lipc
|
UTSW |
9 |
70,727,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R2145:Lipc
|
UTSW |
9 |
70,841,817 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3880:Lipc
|
UTSW |
9 |
70,727,800 (GRCm39) |
missense |
probably damaging |
0.99 |
R4360:Lipc
|
UTSW |
9 |
70,759,864 (GRCm39) |
intron |
probably benign |
|
R4999:Lipc
|
UTSW |
9 |
70,724,013 (GRCm39) |
missense |
probably benign |
0.00 |
R5159:Lipc
|
UTSW |
9 |
70,720,192 (GRCm39) |
missense |
probably benign |
0.03 |
R5197:Lipc
|
UTSW |
9 |
70,705,673 (GRCm39) |
missense |
probably benign |
0.11 |
R5458:Lipc
|
UTSW |
9 |
70,759,864 (GRCm39) |
intron |
probably benign |
|
R5710:Lipc
|
UTSW |
9 |
70,719,979 (GRCm39) |
missense |
probably benign |
0.30 |
R6645:Lipc
|
UTSW |
9 |
70,711,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R6749:Lipc
|
UTSW |
9 |
70,730,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R6849:Lipc
|
UTSW |
9 |
70,726,129 (GRCm39) |
critical splice donor site |
probably null |
|
R7011:Lipc
|
UTSW |
9 |
70,726,236 (GRCm39) |
missense |
probably benign |
0.09 |
R7346:Lipc
|
UTSW |
9 |
70,720,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R7426:Lipc
|
UTSW |
9 |
70,709,450 (GRCm39) |
missense |
probably benign |
0.21 |
R7587:Lipc
|
UTSW |
9 |
70,726,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R7830:Lipc
|
UTSW |
9 |
70,720,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R8269:Lipc
|
UTSW |
9 |
70,727,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R9087:Lipc
|
UTSW |
9 |
70,709,390 (GRCm39) |
missense |
probably benign |
0.06 |
R9297:Lipc
|
UTSW |
9 |
70,727,736 (GRCm39) |
missense |
probably damaging |
0.99 |
R9431:Lipc
|
UTSW |
9 |
70,723,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R9517:Lipc
|
UTSW |
9 |
70,709,560 (GRCm39) |
missense |
probably benign |
0.00 |
R9528:Lipc
|
UTSW |
9 |
70,841,841 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R9547:Lipc
|
UTSW |
9 |
70,728,146 (GRCm39) |
missense |
unknown |
|
X0054:Lipc
|
UTSW |
9 |
70,720,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTGGTCCCAGGGATAGAAGAAGC -3'
(R):5'- GCCGTCAAGTCTGAAGAGCTGTAAC -3'
Sequencing Primer
(F):5'- GAAAGCATCTTTACCTGCTGAGTC -3'
(R):5'- GACGGCTTTCACTGACTCAAG -3'
|
Posted On |
2014-03-14 |