Mutagenetix > Incidental Mutations

Incidental Mutation 'R7011:Liph'

545049

Institutional Source

Beutler Lab

Gene Symbol

Liph

Ensembl Gene

ENSMUSG00000044626

Gene Name

lipase, member H

Synonyms

D16Wsu119e, mPA-PLA1, PLA1B, C130037N08Rik, LPDLR, Lpdlr

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21953817-21995663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21984097 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 74 (I74T)

Ref Sequence

ENSEMBL: ENSMUSP00000062310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060673] [ENSMUST00000074230] [ENSMUST00000231682] [ENSMUST00000231766]

Predicted Effect

probably damaging
Transcript: ENSMUST00000060673
AA Change: I74T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: I74T

Domain	Start	End	E-Value	Type
Pfam:Lipase	11	326	6.8e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000074230
AA Change: I74T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: I74T

Domain	Start	End	E-Value	Type
Pfam:Lipase	15	214	1.5e-45	PFAM
Pfam:Abhydrolase_6	73	296	2.3e-6	PFAM
Pfam:Lipase	209	296	1.7e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000231682
AA Change: I74T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231766
AA Change: I74T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit wavy vibrissae and wavy and matted coats associated with impaired inner rooth sheath formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,143,018	P886S	probably benign	Het
Anapc1	C	T	2: 128,648,681		probably null	Het
Ankrd34c	C	A	9: 89,728,948	G447*	probably null	Het
Apbb1ip	A	T	2: 22,835,931	E238D	probably damaging	Het
Arfgap1	T	C	2: 180,972,142	L110P	probably damaging	Het
Arhgap21	G	A	2: 20,848,878	T1901I	possibly damaging	Het
Brpf1	C	A	6: 113,318,466	Q679K	probably benign	Het
Btnl2	A	G	17: 34,363,513	E351G	probably damaging	Het
Cd209f	T	A	8: 4,104,859	T80S	probably benign	Het
Cdc16	A	G	8: 13,769,451	E349G	probably damaging	Het
Cfap53	A	T	18: 74,329,493	D436V	probably benign	Het
Crhr2	A	T	6: 55,099,210		probably null	Het
Cux1	T	C	5: 136,360,033	K226E	probably damaging	Het
Ddr2	A	T	1: 169,982,103	D768E	probably damaging	Het
Dhx8	T	C	11: 101,741,520	L435P	probably damaging	Het
Dnah11	AGGCC	AGGCCGGCC	12: 117,922,018		probably null	Het
Eif4ebp1	G	A	8: 27,273,344	R55Q	probably damaging	Het
Fbxo18	T	A	2: 11,762,963	D358V	probably damaging	Het
Fra10ac1	T	A	19: 38,188,794	E304D	probably benign	Het
Gabrb2	T	C	11: 42,626,661	S399P	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gprin2	G	T	14: 34,195,436	H126N	probably null	Het
Gucy1a1	A	G	3: 82,109,115	S189P	probably damaging	Het
Htr1d	T	C	4: 136,443,006	M182T	probably benign	Het
Lipc	A	G	9: 70,818,954	F73L	probably benign	Het
Lrif1	T	G	3: 106,732,285	Y229D	probably damaging	Het
Magel2	C	T	7: 62,378,533	T395I	possibly damaging	Het
Magi3	T	C	3: 104,105,754	N139S	probably damaging	Het
Man2c1	T	A	9: 57,137,833	V336E	probably damaging	Het
Mapk12	A	T	15: 89,135,600	Y135N	probably damaging	Het
Mapkapk3	C	T	9: 107,289,396		probably benign	Het
Mast1	A	T	8: 84,911,945	Y653*	probably null	Het
Muc16	T	A	9: 18,637,451	I5849F	probably benign	Het
Muc16	T	A	9: 18,637,543	H5818L	probably benign	Het
Ndufa10	A	G	1: 92,470,859	S68P	probably damaging	Het
Nedd1	C	A	10: 92,690,773	L503F	probably benign	Het
Nr1i3	A	G	1: 171,214,358	M4V	probably benign	Het
Olfr1121	G	A	2: 87,372,260	A243T	possibly damaging	Het
Olfr1307	A	T	2: 111,944,686	F257I	probably benign	Het
Olfr1501	T	C	19: 13,839,039	I45V	probably benign	Het
Olfr332	T	A	11: 58,490,144	I204F	possibly damaging	Het
Papd7	C	T	13: 69,500,080	G489S	probably damaging	Het
Pcdh18	A	T	3: 49,754,782	S695T	probably benign	Het
Pcdha1	T	C	18: 36,930,535	I84T	probably damaging	Het
Plek	T	A	11: 16,994,760	D90V	possibly damaging	Het
Ppp6r1	A	G	7: 4,646,826	C47R	probably damaging	Het
Psg27	G	C	7: 18,556,873	N468K	probably benign	Het
Ptchd4	G	A	17: 42,503,868	E887K	probably benign	Het
Rabgap1	C	T	2: 37,540,480	L678F	probably damaging	Het
Rmdn3	T	C	2: 119,138,423	Y429C	probably damaging	Het
Ros1	A	T	10: 52,180,176	C73S	probably damaging	Het
Rtkn2	G	A	10: 67,979,665		probably benign	Het
Slc25a42	A	G	8: 70,186,702	S242P	probably damaging	Het
Smtnl1	T	A	2: 84,818,409	D167V	probably benign	Het
Smurf2	A	G	11: 106,833,784	L511P	probably benign	Het
Stbd1	A	T	5: 92,605,118	K156*	probably null	Het
Tenm4	G	T	7: 96,896,135	G2453*	probably null	Het
Tpr	A	G	1: 150,433,772	K1760E	probably damaging	Het
Triobp	T	A	15: 78,978,723	L1427Q	probably damaging	Het
Uaca	A	G	9: 60,870,368	E679G	probably damaging	Het
Ucn3	T	G	13: 3,941,421	H77P	possibly damaging	Het
Wnk2	T	A	13: 49,071,091	D998V	probably damaging	Het
Xrcc3	A	G	12: 111,804,535	V320A	probably damaging	Het
Zdbf2	A	G	1: 63,306,766	T1435A	possibly damaging	Het
Zfp36l2	G	T	17: 84,186,433	H259N	possibly damaging	Het
Zfp619	A	T	7: 39,537,762	H1072L	probably damaging	Het
Zfy2	T	A	Y: 2,107,127	E502D	possibly damaging	Het
Zfyve16	G	A	13: 92,521,987	P472L	probably benign	Het

Other mutations in Liph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Liph	APN	16	21968140	missense	probably damaging	1.00
babyback	UTSW	16	21983957	missense	probably damaging	0.97
PIT4131001:Liph	UTSW	16	21995369	start codon destroyed	probably null	0.59
R0004:Liph	UTSW	16	21984194	nonsense	probably null
R0045:Liph	UTSW	16	21968053	missense	probably damaging	1.00
R0045:Liph	UTSW	16	21968053	missense	probably damaging	1.00
R0348:Liph	UTSW	16	21967980	splice site	probably null
R0689:Liph	UTSW	16	21968068	missense	probably damaging	1.00
R0715:Liph	UTSW	16	21995350	missense	probably benign	0.05
R1104:Liph	UTSW	16	21984148	missense	possibly damaging	0.82
R1779:Liph	UTSW	16	21968050	missense	probably benign	0.01
R2323:Liph	UTSW	16	21984004	missense	probably damaging	0.99
R3913:Liph	UTSW	16	21962259	splice site	probably benign
R4402:Liph	UTSW	16	21976250	missense	probably damaging	1.00
R4454:Liph	UTSW	16	21984268	missense	probably benign	0.11
R4672:Liph	UTSW	16	21984056	missense	probably benign	0.14
R4681:Liph	UTSW	16	21984027	missense	probably benign	0.02
R5111:Liph	UTSW	16	21984070	missense	probably damaging	1.00
R5135:Liph	UTSW	16	21956165	nonsense	probably null
R5235:Liph	UTSW	16	21984035	missense	probably damaging	1.00
R5642:Liph	UTSW	16	21965995	missense	possibly damaging	0.61
R5810:Liph	UTSW	16	21968110	missense	probably damaging	1.00
R6188:Liph	UTSW	16	21984268	missense	probably benign	0.11
R6557:Liph	UTSW	16	21983920	missense	possibly damaging	0.60
R6734:Liph	UTSW	16	21983957	missense	probably damaging	0.97
R7038:Liph	UTSW	16	21976259	missense	probably damaging	1.00
R7178:Liph	UTSW	16	21976328	missense	probably damaging	1.00
R7185:Liph	UTSW	16	21995339	missense	probably benign	0.00
R7198:Liph	UTSW	16	21966022	missense	probably damaging	1.00
R7775:Liph	UTSW	16	21958914	missense	probably damaging	1.00
R7832:Liph	UTSW	16	21962236	missense	probably benign	0.01
R7993:Liph	UTSW	16	21958812	missense	probably benign	0.03
R8264:Liph	UTSW	16	21983971	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGCCACCAAGGTCATCTCAG -3'
(R):5'- CAGACACGGATGAAACATGC -3'

Sequencing Primer
(F):5'- CAAGGTCATCTCAGACAAGTCTTTC -3'
(R):5'- GGATGAAACATGCCCGTCCTTC -3'

Posted On

2019-05-13