Incidental Mutation 'R3880:Lipc'
ID |
312789 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lipc
|
Ensembl Gene |
ENSMUSG00000032207 |
Gene Name |
lipase, hepatic |
Synonyms |
HL, Hpl |
MMRRC Submission |
040794-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R3880 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
70705410-70859503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 70727800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 16
(I16F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034731]
[ENSMUST00000214995]
[ENSMUST00000216798]
|
AlphaFold |
P27656 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034731
AA Change: I101F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034731 Gene: ENSMUSG00000032207 AA Change: I101F
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: ENSMUST00000215814
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216798
AA Change: I16F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.7869 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
92% (35/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,584,959 (GRCm39) |
W872R |
probably damaging |
Het |
Abcg3 |
T |
C |
5: 105,086,046 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,583,824 (GRCm39) |
Q4627L |
probably benign |
Het |
Armc2 |
T |
C |
10: 41,839,721 (GRCm39) |
I415V |
possibly damaging |
Het |
Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
Bcas3 |
A |
G |
11: 85,261,948 (GRCm39) |
M107V |
probably benign |
Het |
Ccdc43 |
T |
C |
11: 102,583,029 (GRCm39) |
|
probably null |
Het |
Dtx4 |
A |
C |
19: 12,463,820 (GRCm39) |
S321A |
probably benign |
Het |
Enox1 |
A |
T |
14: 77,848,826 (GRCm39) |
H379L |
possibly damaging |
Het |
Evx1 |
A |
T |
6: 52,290,846 (GRCm39) |
D6V |
probably damaging |
Het |
Fubp1 |
T |
A |
3: 151,926,133 (GRCm39) |
V286E |
probably damaging |
Het |
Itgav |
T |
C |
2: 83,598,645 (GRCm39) |
V234A |
probably damaging |
Het |
Khdc3 |
T |
C |
9: 73,010,872 (GRCm39) |
S241P |
possibly damaging |
Het |
Mael |
T |
C |
1: 166,064,437 (GRCm39) |
|
probably benign |
Het |
Myo7b |
T |
G |
18: 32,102,567 (GRCm39) |
E1487A |
probably damaging |
Het |
Or52a33 |
T |
G |
7: 103,288,831 (GRCm39) |
K172T |
probably benign |
Het |
Osgin1 |
A |
G |
8: 120,168,191 (GRCm39) |
H6R |
probably benign |
Het |
Otog |
C |
T |
7: 45,937,445 (GRCm39) |
T1718I |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,663,565 (GRCm39) |
E1002G |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,911,983 (GRCm39) |
N241S |
unknown |
Het |
Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc6a2 |
C |
A |
8: 93,716,846 (GRCm39) |
N337K |
probably damaging |
Het |
Snx19 |
A |
T |
9: 30,373,688 (GRCm39) |
Q917L |
probably damaging |
Het |
Srsf3 |
T |
C |
17: 29,255,257 (GRCm39) |
V14A |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,471,874 (GRCm39) |
V4729I |
probably benign |
Het |
Syngap1 |
T |
A |
17: 27,172,038 (GRCm39) |
I82N |
probably damaging |
Het |
Telo2 |
A |
T |
17: 25,325,807 (GRCm39) |
M407K |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 129,523,107 (GRCm39) |
G47D |
probably damaging |
Het |
Tradd |
A |
T |
8: 105,987,287 (GRCm39) |
N6K |
possibly damaging |
Het |
Trim30a |
C |
A |
7: 104,060,396 (GRCm39) |
C460F |
probably benign |
Het |
Trip13 |
T |
C |
13: 74,066,597 (GRCm39) |
Y318C |
probably damaging |
Het |
Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
Uggt1 |
A |
G |
1: 36,215,885 (GRCm39) |
|
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,857,226 (GRCm39) |
C101S |
possibly damaging |
Het |
Zfp345 |
T |
C |
2: 150,314,075 (GRCm39) |
I487M |
possibly damaging |
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 |
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'- AGGAGAGGCCTCATATCTGC -3'
(R):5'- AGCACGAGGAGGTCTTTCTG -3'
Sequencing Primer
(F):5'- ACTTGCAGTCTGGGCACTG -3'
(R):5'- TTCTGGTGGGGAGAAAGATCTAGC -3'
|
Posted On |
2015-04-30 |