Mutagenetix > Incidental Mutation

Incidental Mutation 'R4402:Liph'

326700

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

042003-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4402 (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 21976250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 204 (I204N)

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: I204N

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

SMART Domains

Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: I204N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000074230
AA Change: I204N

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

SMART Domains

Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: I204N

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: I204N

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

0.9585

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (61/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,880,194	H167Q	probably benign	Het
Adamts20	T	C	15: 94,379,946	T212A	probably benign	Het
Ap3b1	C	A	13: 94,418,099	L248I	probably damaging	Het
Atl1	T	G	12: 69,959,199	D426E	probably benign	Het
Cage1	T	A	13: 38,023,102	I256F	probably damaging	Het
Calcr	A	T	6: 3,708,484		probably null	Het
Canx	T	C	11: 50,304,438	T268A	probably benign	Het
Chd7	A	T	4: 8,866,353	M842L	possibly damaging	Het
Clca4a	T	C	3: 144,952,848	T787A	probably benign	Het
Clstn3	T	C	6: 124,456,980	Y407C	probably damaging	Het
Copa	C	A	1: 172,102,224	T286N	probably damaging	Het
Cyb5a	G	A	18: 84,871,593	R49Q	possibly damaging	Het
Def6	A	G	17: 28,219,976	K219E	probably damaging	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Eif5	A	T	12: 111,541,749	K161N	probably benign	Het
Fras1	C	A	5: 96,642,620	T951K	probably damaging	Het
Gen1	A	T	12: 11,242,362	N475K	possibly damaging	Het
Gm14569	T	C	X: 36,433,493	Y521C	probably benign	Het
Gm6124	T	A	7: 39,221,105		noncoding transcript	Het
Gpt2	A	T	8: 85,525,559	D501V	probably benign	Het
Gstm2	T	C	3: 107,986,054	K31R	probably benign	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Itga1	T	A	13: 115,001,566	M428L	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcnn4	T	C	7: 24,377,442	W139R	probably benign	Het
Kdm7a	T	A	6: 39,166,668	R380W	probably null	Het
Khdrbs1	T	G	4: 129,742,096	D22A	possibly damaging	Het
Loxhd1	A	G	18: 77,441,760	E2033G	possibly damaging	Het
M6pr	C	T	6: 122,315,023		probably benign	Het
Mrm1	A	G	11: 84,819,089	I95T	probably damaging	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Mug1	C	A	6: 121,879,352	F1030L	probably damaging	Het
Naca	C	T	10: 128,043,472		probably benign	Het
Nob1	A	T	8: 107,418,488		probably benign	Het
Nutm1	A	C	2: 112,249,809	I587R	probably damaging	Het
Olfr385	A	G	11: 73,589,255	V161A	probably benign	Het
Pcdhb2	A	G	18: 37,295,402	K143E	probably benign	Het
Pcnt	T	C	10: 76,392,393	Q1646R	probably benign	Het
Piwil2	A	T	14: 70,408,916	D390E	probably benign	Het
Pkhd1	A	G	1: 20,239,411	L2771P	probably damaging	Het
Pla2g1b	T	A	5: 115,470,888	Y47*	probably null	Het
Plekhn1	T	C	4: 156,225,356	T135A	probably damaging	Het
Pola1	T	C	X: 93,561,423	Y968C	probably damaging	Het
Ppp1r26	C	A	2: 28,451,606	T416K	probably benign	Het
Psmd1	A	G	1: 86,075,951	I153V	possibly damaging	Het
Rcan2	A	G	17: 43,953,470	D7G	probably benign	Het
Rexo5	T	C	7: 119,834,376	I326T	possibly damaging	Het
Rps6kc1	A	G	1: 190,798,605		probably benign	Het
Shc1	T	C	3: 89,426,678	S273P	probably benign	Het
Slc9b2	T	C	3: 135,336,544	V528A	probably benign	Het
Tas2r118	T	C	6: 23,969,294	K256R	probably benign	Het
Tma16	C	T	8: 66,484,171		probably null	Het
Tnfaip2	T	C	12: 111,449,851	F516L	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Wdr35	A	G	12: 8,989,981	D362G	probably damaging	Het
Wwp2	T	C	8: 107,457,978	V106A	probably benign	Het
Zfp40	T	A	17: 23,176,719	H230L	possibly damaging	Het
Zkscan17	T	A	11: 59,503,022	M1L	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
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
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
R8551:Liph	UTSW	16	21981408	missense	probably damaging	1.00
R9311:Liph	UTSW	16	21956163	missense	probably damaging	1.00
R9311:Liph	UTSW	16	21983930	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGGAGATCCACCAAAAGCC -3'
(R):5'- TGATGCTAGCGATTACTCACC -3'

Sequencing Primer
(F):5'- GCCAGGGGTGCTTTGAATCAC -3'
(R):5'- TAGCGATTACTCACCCAAGCATG -3'

Posted On

2015-07-07