Mutagenetix > Incidental Mutations

Incidental Mutation 'R5810:Liph'

447489

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

043395-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21953817-21995663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21968110 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 252 (L252Q)

Ref Sequence

ENSEMBL: ENSMUSP00000156378 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000060673
AA Change: L254Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: L254Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000074230
AA Change: L224Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: L224Q

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 benign
Transcript: ENSMUST00000231682

Predicted Effect

probably damaging
Transcript: ENSMUST00000231766
AA Change: L252Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232673

Meta Mutation Damage Score

0.9686

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (66/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,079,631	F866L	probably benign	Het
Abca16	T	A	7: 120,435,932	C314S	probably damaging	Het
Actl11	C	T	9: 107,929,221	P248S	probably benign	Het
Actr3	A	G	1: 125,416,379		probably benign	Het
Baz1a	G	A	12: 54,927,715		probably benign	Het
Birc6	A	C	17: 74,670,374	N4388T	probably damaging	Het
Bpifa5	G	A	2: 154,163,718		probably null	Het
Car13	A	C	3: 14,641,768		probably null	Het
Ceacam18	A	T	7: 43,636,958	H85L	probably benign	Het
Cnnm3	A	G	1: 36,525,199	E704G	probably benign	Het
Cyp4f14	T	A	17: 32,906,098	I450F	possibly damaging	Het
Ddhd1	G	T	14: 45,602,707	T710N	probably damaging	Het
Ddx60	C	T	8: 62,012,388	Q1360*	probably null	Het
Dlg5	A	G	14: 24,146,254	V1625A	probably damaging	Het
Dst	G	A	1: 34,183,040		probably benign	Het
Dyrk2	G	T	10: 118,860,340	H338N	probably benign	Het
Epb41l1	A	T	2: 156,499,655	I187F	probably damaging	Het
Esd	A	G	14: 74,745,611	D221G	probably damaging	Het
Fam53b	T	A	7: 132,760,164	N45I	probably damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fryl	A	T	5: 73,090,755	D1006E	probably benign	Het
Gli3	T	C	13: 15,644,309	V232A	probably damaging	Het
Gm12666	A	T	4: 92,191,583		probably null	Het
Gm28308	C	A	6: 52,213,216		probably benign	Het
Gpatch1	G	A	7: 35,295,371	A490V	probably benign	Het
Hoxa7	T	C	6: 52,216,024	D128G	probably benign	Het
Igdcc4	A	G	9: 65,128,695	T751A	probably damaging	Het
Igsf10	G	A	3: 59,319,071	L2394F	probably damaging	Het
Il15ra	A	G	2: 11,733,252		probably null	Het
Il17re	C	T	6: 113,469,596	A436V	probably damaging	Het
Krtap19-2	T	C	16: 88,874,236		probably benign	Het
Lgals12	T	C	19: 7,606,720	D4G	probably benign	Het
Mtg1	T	A	7: 140,145,985		probably null	Het
Myo18b	A	G	5: 112,834,450	L1139P	probably damaging	Het
Ninl	T	C	2: 150,950,168	R812G	probably benign	Het
Npm3	A	G	19: 45,748,205	I165T	possibly damaging	Het
Olfr381	G	T	11: 73,486,095	S243*	probably null	Het
Osbpl9	A	G	4: 109,086,374	V231A	probably benign	Het
Pgam2	T	C	11: 5,803,417	H91R	possibly damaging	Het
Pkhd1	A	G	1: 20,200,673	W3219R	probably benign	Het
Procr	A	G	2: 155,751,407	K4E	possibly damaging	Het
Slc22a16	C	T	10: 40,595,318	T495I	possibly damaging	Het
Slc22a6	A	G	19: 8,623,858	K425E	probably damaging	Het
Slco6c1	A	T	1: 97,075,873	C500S	probably damaging	Het
Snrpd2	G	T	7: 19,152,522	V77F	probably benign	Het
Sp100	G	A	1: 85,665,285	G145D	probably benign	Het
Spg7	G	A	8: 123,094,569	E678K	possibly damaging	Het
Ssh1	T	C	5: 113,946,566	K538E	probably benign	Het
Sspo	C	T	6: 48,483,898	R3356W	probably benign	Het
Stx1a	G	T	5: 135,049,078	V255F	probably damaging	Het
Tbc1d13	C	A	2: 30,142,368	Q164K	probably benign	Het
Tfpi	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	2: 84,434,424		probably benign	Het
Tpm2	T	C	4: 43,518,968		probably benign	Het
Triobp	T	C	15: 78,968,267	C874R	probably benign	Het
Tymp	T	A	15: 89,374,331	H269L	probably damaging	Het
Vmn1r194	T	A	13: 22,244,427	Y71*	probably null	Het
Vmn2r102	T	C	17: 19,677,542	V273A	probably benign	Het
Vmn2r2	A	T	3: 64,117,394	C589S	probably damaging	Het
Vps13a	T	C	19: 16,666,324	T2063A	probably benign	Het
Ywhaz	T	C	15: 36,775,266	I217M	probably damaging	Het
Zfp322a	A	C	13: 23,357,409	Y54*	probably null	Het
Zswim9	A	T	7: 13,260,735	V498D	probably damaging	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
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
R7011:Liph	UTSW	16	21984097	missense	probably damaging	0.98
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'- ATGACTCTGGGAACTGAAGAC -3'
(R):5'- TGAGTACATGGAAGCTTGCAG -3'

Sequencing Primer
(F):5'- CTCTGGGAACTGAAGACAAATTAAG -3'
(R):5'- CATGGAAGCTTGCAGGGAATTCTG -3'

Posted On

2016-12-15