Incidental Mutation 'R6749:Lipc'
| ID |
532892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipc
|
| Ensembl Gene |
ENSMUSG00000032207 |
| Gene Name |
lipase, hepatic |
| Synonyms |
HL, Hpl |
| MMRRC Submission |
044866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70705410-70859503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70730668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 88
(I88T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034731]
[ENSMUST00000214995]
[ENSMUST00000216798]
|
| AlphaFold |
P27656 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034731
AA Change: I88T
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207
AA Change: I88T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
14 |
350 |
1.1e-136 |
PFAM |
|
LH2
|
353 |
488 |
4.62e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214995
AA Change: I88T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216798
AA Change: I3T
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| Meta Mutation Damage Score |
0.6672 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (47/47) |
| 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 |
|---|
| Aatk |
A |
G |
11: 119,901,600 (GRCm39) |
V875A |
possibly damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,845,383 (GRCm39) |
F156L |
probably damaging |
Het |
| Bdh2 |
T |
A |
3: 135,006,452 (GRCm39) |
S184T |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,683,375 (GRCm39) |
M1L |
probably benign |
Het |
| Cacfd1 |
T |
C |
2: 26,908,467 (GRCm39) |
Y134H |
probably damaging |
Het |
| Camk1 |
G |
A |
6: 113,311,486 (GRCm39) |
P340L |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,090,807 (GRCm39) |
H424R |
possibly damaging |
Het |
| Cntfr |
T |
A |
4: 41,663,232 (GRCm39) |
T192S |
possibly damaging |
Het |
| Erbin |
G |
T |
13: 103,970,885 (GRCm39) |
S910R |
probably damaging |
Het |
| Esrp1 |
A |
T |
4: 11,357,519 (GRCm39) |
V366E |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,808,738 (GRCm39) |
S1686T |
possibly damaging |
Het |
| Gata5 |
A |
G |
2: 179,976,143 (GRCm39) |
L7S |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,818,640 (GRCm39) |
|
probably null |
Het |
| Ift140 |
A |
G |
17: 25,317,890 (GRCm39) |
E1458G |
probably damaging |
Het |
| Ift57 |
G |
A |
16: 49,581,347 (GRCm39) |
G209R |
probably benign |
Het |
| Il12rb2 |
G |
T |
6: 67,338,950 (GRCm39) |
|
probably benign |
Het |
| Krt78 |
G |
A |
15: 101,859,358 (GRCm39) |
R280C |
probably damaging |
Het |
| Lrmda |
G |
T |
14: 22,077,344 (GRCm39) |
R27L |
probably benign |
Het |
| Lrrc37a |
T |
G |
11: 103,392,923 (GRCm39) |
E834A |
probably benign |
Het |
| Mmachc |
C |
A |
4: 116,561,738 (GRCm39) |
R132L |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,714,196 (GRCm39) |
Y88H |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
| Or2y1f |
A |
G |
11: 49,184,877 (GRCm39) |
H243R |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,523,164 (GRCm39) |
T289A |
possibly damaging |
Het |
| Pcdhgb4 |
G |
T |
18: 37,854,282 (GRCm39) |
A226S |
possibly damaging |
Het |
| Pde4c |
T |
C |
8: 71,198,659 (GRCm39) |
V167A |
probably damaging |
Het |
| Pigr |
A |
G |
1: 130,774,285 (GRCm39) |
T422A |
probably benign |
Het |
| Pmp2 |
T |
C |
3: 10,247,542 (GRCm39) |
Y49C |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,103,048 (GRCm39) |
I441V |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,434,166 (GRCm39) |
E354G |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,869,949 (GRCm39) |
D412E |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,058,403 (GRCm39) |
I97V |
probably benign |
Het |
| Slc4a3 |
C |
T |
1: 75,531,182 (GRCm39) |
R792* |
probably null |
Het |
| Slc6a20a |
A |
G |
9: 123,466,135 (GRCm39) |
C569R |
probably damaging |
Het |
| Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 13,816,629 (GRCm39) |
Y183F |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,121,702 (GRCm39) |
T194M |
probably damaging |
Het |
| Tektl1 |
A |
C |
10: 78,588,672 (GRCm39) |
M46R |
possibly damaging |
Het |
| Tmem63c |
T |
A |
12: 87,122,439 (GRCm39) |
N412K |
probably damaging |
Het |
| Trav5-1 |
T |
C |
14: 52,860,402 (GRCm39) |
I69T |
possibly damaging |
Het |
| Trim68 |
T |
C |
7: 102,327,990 (GRCm39) |
D321G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,695,600 (GRCm39) |
|
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,977,605 (GRCm39) |
V109A |
probably damaging |
Het |
| Vmn2r96 |
C |
T |
17: 18,818,352 (GRCm39) |
P643L |
probably damaging |
Het |
| Zfpm2 |
G |
T |
15: 40,818,104 (GRCm39) |
V146F |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,898,519 (GRCm39) |
K135R |
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 |
|
R1350:Lipc
|
UTSW |
9 |
70,705,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CCGAGCTTGATCCTTAGAACC -3'
(R):5'- GAGAAGCCTTGGAGCTACTG -3'
Sequencing Primer
(F):5'- TTACCTGTAACTCCAGATCCAGGG -3'
(R):5'- ATGAAAACGATCGCCTGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation