Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Liph'

32783

Institutional Source

Beutler Lab

Gene Symbol

Liph

Ensembl Gene

ENSMUSG00000044626

Gene Name

lipase, member H

Synonyms

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

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0045 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

21772567-21814408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21786803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 271 (Y271C)

Ref Sequence

ENSEMBL: ENSMUSP00000156378 (fasta)

Gene Model

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

AlphaFold

Q8CIV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060673
AA Change: Y273C

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

SMART Domains

Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: Y273C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000074230
AA Change: Y243C

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

SMART Domains

Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: Y243C

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: Y271C

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

0.9478

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (75/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,220,148 (GRCm39)	N299S	probably damaging	Het
Abi3	A	G	11: 95,723,541 (GRCm39)	*368R	probably null	Het
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Arvcf	T	A	16: 18,222,208 (GRCm39)	L722Q	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
Atg9b	G	T	5: 24,592,396 (GRCm39)	Q621K	probably damaging	Het
Atp12a	G	A	14: 56,610,330 (GRCm39)	E234K	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Ccdc168	T	C	1: 44,096,365 (GRCm39)	K1578E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Commd10	T	C	18: 47,100,903 (GRCm39)	S114P	possibly damaging	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Egr2	T	A	10: 67,376,310 (GRCm39)	V252E	probably benign	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Gm10840	C	A	11: 106,051,926 (GRCm39)		probably benign	Het
Gpr37l1	A	G	1: 135,088,883 (GRCm39)	L394P	probably damaging	Het
Gsap	T	C	5: 21,431,830 (GRCm39)	M243T	possibly damaging	Het
Hsd3b5	T	A	3: 98,526,460 (GRCm39)	I329F	probably benign	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Il17b	G	A	18: 61,823,315 (GRCm39)	V50M	probably damaging	Het
Itga4	A	T	2: 79,131,375 (GRCm39)	Y581F	probably damaging	Het
Jmjd8	A	G	17: 26,048,255 (GRCm39)	E92G	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Klhl42	A	G	6: 146,993,666 (GRCm39)	T213A	probably benign	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Lrrd1	A	G	5: 3,916,418 (GRCm39)	K812E	possibly damaging	Het
Ltbp2	T	C	12: 84,860,062 (GRCm39)	T631A	probably damaging	Het
Ltbp2	G	A	12: 84,856,361 (GRCm39)	T701I	probably damaging	Het
Mavs	G	A	2: 131,080,751 (GRCm39)	R13Q	probably damaging	Het
Mtor	C	G	4: 148,549,406 (GRCm39)	H597D	probably benign	Het
Muc5b	T	A	7: 141,410,555 (GRCm39)	H1309Q	unknown	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Nnat	A	T	2: 157,402,408 (GRCm39)		probably benign	Het
Or14c40	T	C	7: 86,313,548 (GRCm39)	L226S	possibly damaging	Het
Or2ag19	T	A	7: 106,444,596 (GRCm39)	Y259*	probably null	Het
Or5h17	G	A	16: 58,820,854 (GRCm39)	D269N	probably benign	Het
Or7e175	A	T	9: 20,048,487 (GRCm39)	Q25L	probably benign	Het
Pclo	C	T	5: 14,589,485 (GRCm39)	A595V	unknown	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Pkd2	T	A	5: 104,603,671 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,606 (GRCm39)	I155F	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Ripor2	A	G	13: 24,878,209 (GRCm39)	D328G	probably damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Slc25a13	A	T	6: 6,109,277 (GRCm39)	S362T	probably benign	Het
Stk35	A	T	2: 129,642,488 (GRCm39)	R10*	probably null	Het
Tal1	A	G	4: 114,925,762 (GRCm39)	D277G	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trp53bp1	A	C	2: 121,034,978 (GRCm39)	V103G	probably benign	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Ttll5	T	G	12: 85,926,133 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,584,143 (GRCm39)	T451A	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	C	A	17: 35,217,042 (GRCm39)	A471S	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vmn2r70	T	C	7: 85,215,252 (GRCm39)	N94S	probably damaging	Het
Vpreb1b	T	C	16: 17,798,631 (GRCm39)	L39P	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het
Wapl	A	G	14: 34,455,751 (GRCm39)	I176V	probably benign	Het
Wdr31	G	T	4: 62,382,270 (GRCm39)	L4I	possibly damaging	Het

Other mutations in Liph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Liph	APN	16	21,786,890 (GRCm39)	missense	probably damaging	1.00
babyback	UTSW	16	21,802,707 (GRCm39)	missense	probably damaging	0.97
PIT4131001:Liph	UTSW	16	21,814,119 (GRCm39)	start codon destroyed	probably null	0.59
R0004:Liph	UTSW	16	21,802,944 (GRCm39)	nonsense	probably null
R0045:Liph	UTSW	16	21,786,803 (GRCm39)	missense	probably damaging	1.00
R0348:Liph	UTSW	16	21,786,730 (GRCm39)	splice site	probably null
R0689:Liph	UTSW	16	21,786,818 (GRCm39)	missense	probably damaging	1.00
R0715:Liph	UTSW	16	21,814,100 (GRCm39)	missense	probably benign	0.05
R1104:Liph	UTSW	16	21,802,898 (GRCm39)	missense	possibly damaging	0.82
R1779:Liph	UTSW	16	21,786,800 (GRCm39)	missense	probably benign	0.01
R2323:Liph	UTSW	16	21,802,754 (GRCm39)	missense	probably damaging	0.99
R3913:Liph	UTSW	16	21,781,009 (GRCm39)	splice site	probably benign
R4402:Liph	UTSW	16	21,795,000 (GRCm39)	missense	probably damaging	1.00
R4454:Liph	UTSW	16	21,803,018 (GRCm39)	missense	probably benign	0.11
R4672:Liph	UTSW	16	21,802,806 (GRCm39)	missense	probably benign	0.14
R4681:Liph	UTSW	16	21,802,777 (GRCm39)	missense	probably benign	0.02
R5111:Liph	UTSW	16	21,802,820 (GRCm39)	missense	probably damaging	1.00
R5135:Liph	UTSW	16	21,774,915 (GRCm39)	nonsense	probably null
R5235:Liph	UTSW	16	21,802,785 (GRCm39)	missense	probably damaging	1.00
R5642:Liph	UTSW	16	21,784,745 (GRCm39)	missense	possibly damaging	0.61
R5810:Liph	UTSW	16	21,786,860 (GRCm39)	missense	probably damaging	1.00
R6188:Liph	UTSW	16	21,803,018 (GRCm39)	missense	probably benign	0.11
R6557:Liph	UTSW	16	21,802,670 (GRCm39)	missense	possibly damaging	0.60
R6734:Liph	UTSW	16	21,802,707 (GRCm39)	missense	probably damaging	0.97
R7011:Liph	UTSW	16	21,802,847 (GRCm39)	missense	probably damaging	0.98
R7038:Liph	UTSW	16	21,795,009 (GRCm39)	missense	probably damaging	1.00
R7178:Liph	UTSW	16	21,795,078 (GRCm39)	missense	probably damaging	1.00
R7185:Liph	UTSW	16	21,814,089 (GRCm39)	missense	probably benign	0.00
R7198:Liph	UTSW	16	21,784,772 (GRCm39)	missense	probably damaging	1.00
R7775:Liph	UTSW	16	21,777,664 (GRCm39)	missense	probably damaging	1.00
R7832:Liph	UTSW	16	21,780,986 (GRCm39)	missense	probably benign	0.01
R7993:Liph	UTSW	16	21,777,562 (GRCm39)	missense	probably benign	0.03
R8264:Liph	UTSW	16	21,802,721 (GRCm39)	missense	possibly damaging	0.94
R8551:Liph	UTSW	16	21,800,158 (GRCm39)	missense	probably damaging	1.00
R9311:Liph	UTSW	16	21,802,680 (GRCm39)	missense	probably benign	0.01
R9311:Liph	UTSW	16	21,774,913 (GRCm39)	missense	probably damaging	1.00
R9794:Liph	UTSW	16	21,774,862 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCTGCTAAGCTGTAATGCCCTATCC -3'
(R):5'- TGCTTTTCTGGTAAACGCTGCAAC -3'

Sequencing Primer
(F):5'- caacctaagctaaagagcaagac -3'
(R):5'- GGTAAACGCTGCAACTGCTC -3'

Posted On

2013-05-09