Incidental Mutation 'IGL02431:Lipc'
| ID |
293153 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lipc
|
| Ensembl Gene |
ENSMUSG00000032207 |
| Gene Name |
lipase, hepatic |
| Synonyms |
HL, Hpl |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
IGL02431
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
70705410-70859503 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 70841750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034731]
[ENSMUST00000214995]
[ENSMUST00000216798]
|
| AlphaFold |
P27656 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034731
|
| SMART Domains |
Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
14 |
350 |
1.1e-136 |
PFAM |
|
LH2
|
353 |
488 |
4.62e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216798
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
A |
17: 24,517,958 (GRCm39) |
I784L |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,237,598 (GRCm39) |
V473E |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,706,010 (GRCm39) |
E758G |
probably damaging |
Het |
| C6 |
A |
T |
15: 4,789,343 (GRCm39) |
K263* |
probably null |
Het |
| Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,659,424 (GRCm38) |
N57S |
probably damaging |
Het |
| Col4a3 |
C |
T |
1: 82,657,344 (GRCm39) |
Q815* |
probably null |
Het |
| Dcaf10 |
A |
G |
4: 45,342,630 (GRCm39) |
M155V |
probably benign |
Het |
| Fam228b |
T |
C |
12: 4,812,370 (GRCm39) |
Y136C |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,255,651 (GRCm39) |
H793Q |
probably benign |
Het |
| Gm10134 |
T |
C |
2: 28,396,429 (GRCm39) |
|
probably benign |
Het |
| Gm6505 |
T |
C |
3: 28,819,169 (GRCm39) |
|
noncoding transcript |
Het |
| Il31ra |
A |
G |
13: 112,666,830 (GRCm39) |
F416S |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,306,982 (GRCm39) |
K368E |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,036,500 (GRCm39) |
N884K |
probably damaging |
Het |
| Mrgprx1 |
T |
C |
7: 47,670,875 (GRCm39) |
R291G |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,401,465 (GRCm39) |
V3057E |
possibly damaging |
Het |
| Or11g1 |
T |
A |
14: 50,651,226 (GRCm39) |
I75N |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,413 (GRCm39) |
R167S |
probably benign |
Het |
| Postn |
A |
T |
3: 54,282,517 (GRCm39) |
I493F |
probably damaging |
Het |
| Ptpn22 |
C |
A |
3: 103,810,713 (GRCm39) |
F713L |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,438,148 (GRCm39) |
V239A |
probably damaging |
Het |
| Rangrf |
C |
A |
11: 68,863,565 (GRCm39) |
C147F |
probably benign |
Het |
| Rnf112 |
C |
T |
11: 61,341,205 (GRCm39) |
R460H |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,014,305 (GRCm39) |
E423G |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,624,736 (GRCm39) |
V1738A |
possibly damaging |
Het |
| Tipin |
A |
G |
9: 64,208,467 (GRCm39) |
K204E |
probably benign |
Het |
| Traf3ip1 |
A |
T |
1: 91,427,357 (GRCm39) |
Q109L |
unknown |
Het |
| Ttc21b |
A |
T |
2: 66,082,229 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
A |
2: 76,804,460 (GRCm39) |
A271S |
probably benign |
Het |
| Vegfb |
C |
A |
19: 6,963,386 (GRCm39) |
|
probably null |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,888 (GRCm39) |
L252H |
possibly damaging |
Het |
| Wipi1 |
A |
T |
11: 109,494,617 (GRCm39) |
V72D |
probably damaging |
Het |
| Zmym1 |
G |
A |
4: 126,941,557 (GRCm39) |
Q944* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation