Mutagenetix > Incidental Mutations

Incidental Mutation 'R7832:Liph'

605737

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 #

R7832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21953817-21995663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21962236 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 335 (I335V)

Ref Sequence

ENSEMBL: ENSMUSP00000062310 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000060673
AA Change: I335V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: I335V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000074230
AA Change: I305V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: I305V

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 benign
Transcript: ENSMUST00000231766
AA Change: I333V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (78/80)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	G	A	5: 135,009,800	C30Y	probably benign	Het
Akr1c20	C	T	13: 4,512,672	V95M	probably damaging	Het
Ano7	A	G	1: 93,394,473	D401G	probably benign	Het
Arhgef10l	G	A	4: 140,578,305	T176I	possibly damaging	Het
Armc2	A	C	10: 41,966,796	V337G	probably damaging	Het
Atp6v0d2	T	A	4: 19,922,400	Y33F	probably benign	Het
Banp	A	G	8: 122,020,552	S447G	probably benign	Het
Car8	T	A	4: 8,238,860	Y32F	possibly damaging	Het
Ccdc188	C	T	16: 18,218,675	P124S	probably damaging	Het
Cdc23	A	T	18: 34,647,019	D85E	probably benign	Het
Cnot6l	T	C	5: 96,094,225	E213G	possibly damaging	Het
Cntnap4	A	G	8: 112,757,481	T389A	probably benign	Het
Cramp1l	A	T	17: 24,983,222	C429S	probably damaging	Het
Crygn	T	C	5: 24,756,074	H78R	probably benign	Het
D630003M21Rik	T	A	2: 158,217,668	D104V	probably damaging	Het
Dcaf10	T	G	4: 45,348,196	H217Q	probably damaging	Het
Dmrtb1	C	T	4: 107,683,982	V61M	probably benign	Het
Dnaic1	A	G	4: 41,605,823	E271G	probably benign	Het
Efr3a	G	A	15: 65,829,830	V198I	probably benign	Het
Emsy	G	A	7: 98,639,853	T79M	probably damaging	Het
Ergic1	A	G	17: 26,634,475	D145G	probably damaging	Het
Fah	A	G	7: 84,595,478	V229A	probably damaging	Het
Fam196b	A	G	11: 34,403,034	T359A	probably benign	Het
Fam76a	G	A	4: 132,902,031	T270I	probably damaging	Het
Fat4	A	T	3: 39,001,204	M4191L	probably benign	Het
Fbxl22	G	T	9: 66,511,717	R213S	probably benign	Het
Fktn	T	C	4: 53,734,859	F127L	probably benign	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Gabbr2	A	T	4: 46,734,096	S541T	probably benign	Het
Gm7489	A	G	15: 53,886,006	H158R	unknown	Het
Greb1l	G	C	18: 10,542,056	E1268Q	probably benign	Het
H2-D1	A	G	17: 35,263,872	D126G	probably damaging	Het
Ikzf3	T	A	11: 98,518,699	T13S	probably benign	Het
Il23r	T	C	6: 67,423,862	T495A	probably benign	Het
Irf5	A	G	6: 29,535,462	T230A	probably benign	Het
Itga2b	A	T	11: 102,457,282	I831N	probably damaging	Het
Itgb4	A	G	11: 116,000,261	D1168G	probably damaging	Het
Kcnma1	G	T	14: 23,390,923	P605Q	probably benign	Het
Larp7	A	T	3: 127,544,267	M381K	possibly damaging	Het
Lfng	G	A	5: 140,612,833	G269D	probably benign	Het
Map2k2	A	T	10: 81,118,206	I169F	possibly damaging	Het
Mmrn1	T	A	6: 60,987,060		probably null	Het
Nod2	A	G	8: 88,660,797		probably null	Het
Olfr1413	T	C	1: 92,573,497	F109L	probably benign	Het
Olfr1453	T	A	19: 13,027,996	Y111F	probably benign	Het
Olfr610	A	C	7: 103,506,379	L189R	probably damaging	Het
Pcdh20	G	T	14: 88,469,707	F52L	probably null	Het
Pkhd1	A	T	1: 20,502,999	N1894K	probably damaging	Het
Pla2r1	T	A	2: 60,504,192	D412V	possibly damaging	Het
Pole	T	G	5: 110,317,797	M1197R	probably benign	Het
Pom121l2	C	T	13: 21,983,878	T773I	possibly damaging	Het
Ppp2r5d	A	T	17: 46,684,546	M497K	probably benign	Het
Rbm45	G	T	2: 76,376,453	V270F	possibly damaging	Het
Ros1	A	T	10: 52,144,861	F673I	probably damaging	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Scn4a	A	G	11: 106,322,015	I1388T	probably benign	Het
Sema3c	G	A	5: 17,694,847	V446I	probably damaging	Het
Six4	T	C	12: 73,112,634	Y176C	probably damaging	Het
Slc35a5	T	A	16: 45,144,207	K221M	possibly damaging	Het
Slc6a19	A	G	13: 73,693,063	I76T	probably damaging	Het
Slfn4	A	G	11: 83,186,593	D69G	probably damaging	Het
Smc6	T	C	12: 11,317,843	F1085L	probably benign	Het
Spatc1l	A	G	10: 76,562,390	S9G	probably benign	Het
Stx8	T	A	11: 68,109,280	I182N	probably damaging	Het
Sult2a8	A	T	7: 14,413,671	C232S	probably benign	Het
Susd4	G	A	1: 182,858,505	A207T	probably benign	Het
Svep1	G	A	4: 58,054,539	P3350S	probably benign	Het
Tbx20	A	T	9: 24,773,812	S12T	probably damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Umodl1	A	T	17: 30,973,692		probably null	Het
Vmn1r201	T	C	13: 22,475,368	F251L	possibly damaging	Het
Vmn1r230	A	G	17: 20,846,671	T41A	probably benign	Het
Vmn2r20	A	G	6: 123,385,923	L634P	probably damaging	Het
Vmn2r81	A	T	10: 79,293,830	R852W	probably damaging	Het
Wdr41	A	T	13: 95,015,193	N287I	probably benign	Het
Zfp202	A	G	9: 40,210,462	D285G	possibly 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
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
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
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'- AGAGCCCTGGTACCAATTCC -3'
(R):5'- ACTGGTCATTCTTGCCTACATAGTG -3'

Sequencing Primer
(F):5'- CCAATTCCTGGTATCAGTTGCTAAGG -3'
(R):5'- CCTACATAGTGAGTTTGAAGGACCTG -3'

Posted On

2019-12-20