Mutagenetix > Incidental Mutation

Incidental Mutation 'R9547:Lipc'

720185

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: 0.096) question?

Stock #

R9547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70705410-70859503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70728146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 104 (D104G)

Ref Sequence

ENSEMBL: ENSMUSP00000149638 (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

unknown
Transcript: ENSMUST00000214995
AA Change: D104G

Predicted Effect

probably benign
Transcript: ENSMUST00000216798

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	G	T	3: 59,772,656 (GRCm39)	M53I	probably benign	Het
Abtb1	C	T	6: 88,815,917 (GRCm39)	V185M	probably damaging	Het
Acod1	A	T	14: 103,292,294 (GRCm39)	S273C	probably benign	Het
Aifm3	T	C	16: 17,317,604 (GRCm39)	V75A	probably benign	Het
Anks1	T	C	17: 28,270,748 (GRCm39)	L845P	probably damaging	Het
Apc	A	G	18: 34,445,311 (GRCm39)	K736E	possibly damaging	Het
Atad2	A	G	15: 57,989,973 (GRCm39)	S168P	probably damaging	Het
Cand2	G	A	6: 115,759,757 (GRCm39)	A143T	probably benign	Het
Cep290	A	T	10: 100,380,841 (GRCm39)	H116L	probably benign	Het
Chd9	G	A	8: 91,683,186 (GRCm39)	R542H	unknown	Het
Crnkl1	T	C	2: 145,772,550 (GRCm39)	M176V	possibly damaging	Het
Dnah14	A	C	1: 181,420,992 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,624,805 (GRCm39)	E3744G	probably damaging	Het
Ednrb	T	C	14: 104,080,459 (GRCm39)	I152V	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fat3	A	T	9: 15,911,142 (GRCm39)	I1620N	possibly damaging	Het
Fbxo4	G	A	15: 3,998,493 (GRCm39)	P322S	probably damaging	Het
Fbxw10	G	T	11: 62,767,647 (GRCm39)	V828F	possibly damaging	Het
Gm7579	CTGTGTG	CTGTG	7: 141,765,736 (GRCm39)		probably null	Het
Gmip	T	C	8: 70,273,381 (GRCm39)	S891P	possibly damaging	Het
Grb10	A	G	11: 11,893,919 (GRCm39)	I389T	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hhatl	A	G	9: 121,618,649 (GRCm39)	Y118H	probably damaging	Het
Ighv1-69	A	G	12: 115,586,885 (GRCm39)	F83L	possibly damaging	Het
Intu	G	A	3: 40,608,536 (GRCm39)	V183I	probably benign	Het
Ipo4	A	G	14: 55,870,789 (GRCm39)		probably null	Het
Kdm4c	A	C	4: 74,323,104 (GRCm39)	D1012A	possibly damaging	Het
Klrc2	C	G	6: 129,633,812 (GRCm39)	A188P	probably benign	Het
Lrrc63	A	T	14: 75,344,828 (GRCm39)	L420M	probably damaging	Het
Ly75	C	A	2: 60,161,069 (GRCm39)		probably null	Het
Mrpl50	T	A	4: 49,514,338 (GRCm39)	H111L	probably damaging	Het
Mtmr9	A	G	14: 63,779,855 (GRCm39)	I78T	possibly damaging	Het
Npepl1	A	G	2: 173,962,030 (GRCm39)	D304G	probably null	Het
Nphs1	C	T	7: 30,180,875 (GRCm39)	S1093F	probably benign	Het
Or2n1d	G	T	17: 38,646,341 (GRCm39)	V98F	possibly damaging	Het
Or5k3	T	C	16: 58,970,107 (GRCm39)	I298T	possibly damaging	Het
Or8g24	G	A	9: 38,989,927 (GRCm39)	T38I	probably damaging	Het
Pcdh18	A	T	3: 49,709,506 (GRCm39)	I603K	possibly damaging	Het
Pdcd6ip	A	T	9: 113,484,174 (GRCm39)	Y818N	unknown	Het
Phf10	A	G	17: 15,166,459 (GRCm39)		probably null	Het
Phgdh	A	G	3: 98,241,950 (GRCm39)	S55P	probably damaging	Het
Poll	G	T	19: 45,546,359 (GRCm39)	P227H	probably benign	Het
Prdm2	A	T	4: 142,861,561 (GRCm39)	S576R	probably damaging	Het
Psg26	T	C	7: 18,214,087 (GRCm39)	I192V	probably benign	Het
Rpgrip1l	T	C	8: 91,977,873 (GRCm39)	D1038G	probably benign	Het
Snx18	A	G	13: 113,753,754 (GRCm39)	M393T	possibly damaging	Het
Srsf11	A	G	3: 157,717,735 (GRCm39)	C448R	unknown	Het
Sv2c	A	G	13: 96,185,008 (GRCm39)	I223T	probably benign	Het
Tbc1d1	T	C	5: 64,330,950 (GRCm39)	V43A	possibly damaging	Het
Tex21	T	C	12: 76,253,591 (GRCm39)	T441A	probably damaging	Het
Thnsl2	T	A	6: 71,116,810 (GRCm39)	D114V	probably damaging	Het
Trpm2	A	G	10: 77,748,467 (GRCm39)	V1401A	probably benign	Het
Ttll6	T	C	11: 96,049,588 (GRCm39)	S769P	probably benign	Het
Tut4	A	G	4: 108,370,429 (GRCm39)	D776G	probably benign	Het
Uba5	A	G	9: 103,931,567 (GRCm39)	S222P	probably damaging	Het
Ublcp1	T	C	11: 44,347,251 (GRCm39)	Y290C	probably damaging	Het
Vmn1r216	A	T	13: 23,283,455 (GRCm39)	D46V	probably damaging	Het
Wdr17	A	T	8: 55,112,735 (GRCm39)	F789I	probably damaging	Het
Zfp266	A	G	9: 20,411,746 (GRCm39)	S144P	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
R9528:Lipc	UTSW	9	70,841,841 (GRCm39)	start codon destroyed	probably null	0.98
X0054:Lipc	UTSW	9	70,720,030 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGACCTCCTCGTGCTGAG -3'
(R):5'- ACAAACACTCAGCTCTGGGAG -3'

Sequencing Primer
(F):5'- CTGAGGATATTTGGGCTTGAAGAG -3'
(R):5'- GAGCGTAGTAGGTACACTATTACC -3'

Posted On

2022-07-18