Incidental Mutation 'R9528:Lipc'
ID |
719346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lipc
|
Ensembl Gene |
ENSMUSG00000032207 |
Gene Name |
lipase, hepatic |
Synonyms |
HL, Hpl |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R9528 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
70705410-70859503 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 70841841 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034731]
[ENSMUST00000214995]
[ENSMUST00000216798]
|
AlphaFold |
P27656 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034731
AA Change: M1K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034731 Gene: ENSMUSG00000032207 AA Change: M1K
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
14 |
350 |
1.1e-136 |
PFAM |
LH2
|
353 |
488 |
4.62e-18 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000214995
AA Change: M1K
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216798
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030452D12Rik |
A |
T |
8: 107,231,129 (GRCm39) |
D105V |
unknown |
Het |
Abi2 |
T |
C |
1: 60,473,453 (GRCm39) |
S57P |
probably damaging |
Het |
Acap2 |
C |
A |
16: 30,929,908 (GRCm39) |
K358N |
possibly damaging |
Het |
Adgrd1 |
A |
G |
5: 129,256,740 (GRCm39) |
Y703C |
probably benign |
Het |
Alpi |
A |
G |
1: 87,026,772 (GRCm39) |
|
probably null |
Het |
Bpifb9b |
A |
G |
2: 154,153,297 (GRCm39) |
E121G |
probably benign |
Het |
Btnl1 |
T |
A |
17: 34,603,352 (GRCm39) |
F338I |
possibly damaging |
Het |
Clptm1l |
G |
A |
13: 73,760,550 (GRCm39) |
S311N |
possibly damaging |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,731,789 (GRCm39) |
K1488M |
probably damaging |
Het |
Crot |
A |
T |
5: 9,043,575 (GRCm39) |
Y16N |
possibly damaging |
Het |
Dnajc13 |
T |
C |
9: 104,114,904 (GRCm39) |
S56G |
probably benign |
Het |
Dpep3 |
C |
A |
8: 106,704,251 (GRCm39) |
A230S |
probably benign |
Het |
Gabrr2 |
T |
C |
4: 33,081,483 (GRCm39) |
I173T |
probably benign |
Het |
Klhl5 |
T |
C |
5: 65,313,586 (GRCm39) |
|
probably null |
Het |
Lekr1 |
T |
C |
3: 65,591,608 (GRCm39) |
F115S |
unknown |
Het |
Lrfn5 |
T |
A |
12: 61,886,408 (GRCm39) |
N65K |
probably benign |
Het |
Mmp17 |
G |
C |
5: 129,683,392 (GRCm39) |
E509D |
probably benign |
Het |
Myo1f |
T |
C |
17: 33,797,156 (GRCm39) |
|
probably null |
Het |
Or10h28 |
T |
A |
17: 33,488,445 (GRCm39) |
V249E |
probably damaging |
Het |
Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
Or1o3 |
T |
A |
17: 37,574,087 (GRCm39) |
H156L |
probably benign |
Het |
Or7g32 |
A |
G |
9: 19,389,444 (GRCm39) |
F34S |
probably damaging |
Het |
Pclo |
G |
A |
5: 14,727,691 (GRCm39) |
R2183Q |
unknown |
Het |
Plec |
T |
A |
15: 76,061,033 (GRCm39) |
H2968L |
possibly damaging |
Het |
Ppp2r1a |
A |
G |
17: 21,176,153 (GRCm39) |
E125G |
probably benign |
Het |
Prkcd |
T |
C |
14: 30,323,768 (GRCm39) |
D458G |
probably damaging |
Het |
Ptch1 |
A |
C |
13: 63,661,615 (GRCm39) |
N1174K |
probably benign |
Het |
Sarnp |
A |
G |
10: 128,708,326 (GRCm39) |
R180G |
probably damaging |
Het |
Secisbp2 |
A |
G |
13: 51,810,979 (GRCm39) |
K214E |
possibly damaging |
Het |
Sorl1 |
C |
A |
9: 41,933,631 (GRCm39) |
|
probably null |
Het |
Speg |
T |
A |
1: 75,364,447 (GRCm39) |
I276N |
possibly damaging |
Het |
Txnrd3 |
A |
G |
6: 89,649,954 (GRCm39) |
Y518C |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,837,960 (GRCm39) |
I964F |
possibly damaging |
Het |
Wars2 |
A |
G |
3: 99,111,922 (GRCm39) |
H140R |
possibly damaging |
Het |
Zfp148 |
T |
A |
16: 33,316,660 (GRCm39) |
I444N |
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 |
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 |
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'- TTGGGAGCCACTCATAGAACC -3'
(R):5'- AGTGCTTCTGTGGGTCAATC -3'
Sequencing Primer
(F):5'- TAGAACCACTTCATGAGCTCTG -3'
(R):5'- CTTCTGTGGGTCAATCTAGATATTG -3'
|
Posted On |
2022-07-18 |