Mutagenetix > Incidental Mutation

Incidental Mutation 'R1104:Liph'

98411

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

039177-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21772567-21814408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21802898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 57 (I57T)

Ref Sequence

ENSEMBL: ENSMUSP00000073853 (fasta)

Gene Model

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

AlphaFold

Q8CIV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060673
AA Change: I57T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: I57T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074230
AA Change: I57T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: I57T

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

possibly damaging
Transcript: ENSMUST00000231682
AA Change: I57T

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000231766
AA Change: I57T

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.7136

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (70/71)

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
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930550C14Rik	A	G	9: 53,332,917 (GRCm39)	I93V	probably benign	Het
Abcg5	A	C	17: 84,989,477 (GRCm39)	I77S	possibly damaging	Het
Adam3	T	C	8: 25,171,545 (GRCm39)	Y762C	probably benign	Het
Agap1	T	C	1: 89,716,962 (GRCm39)	S26P	probably damaging	Het
Ago1	T	C	4: 126,347,426 (GRCm39)	Y441C	probably damaging	Het
B3gnt3	A	G	8: 72,146,481 (GRCm39)	L16S	possibly damaging	Het
Btaf1	T	A	19: 36,982,002 (GRCm39)	D1677E	probably damaging	Het
Cd5l	T	A	3: 87,268,206 (GRCm39)	S18T	probably benign	Het
Cdca2	T	A	14: 67,931,131 (GRCm39)	R521W	probably damaging	Het
Cfap61	C	A	2: 145,792,981 (GRCm39)	S64*	probably null	Het
Cryzl2	T	A	1: 157,298,174 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dhrs1	T	C	14: 55,981,162 (GRCm39)	K83E	probably benign	Het
Dmrt2	T	A	19: 25,655,980 (GRCm39)	F526L	probably benign	Het
Dnajb14	T	A	3: 137,614,115 (GRCm39)	M342K	possibly damaging	Het
Dpf3	A	G	12: 83,378,761 (GRCm39)	V101A	probably benign	Het
Dthd1	A	C	5: 62,979,302 (GRCm39)	T321P	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fras1	G	A	5: 96,856,530 (GRCm39)	R1971Q	probably benign	Het
Fry	A	G	5: 150,419,754 (GRCm39)	N608S	probably damaging	Het
Gabrr3	T	A	16: 59,281,998 (GRCm39)	V451D	probably damaging	Het
Glg1	A	G	8: 111,924,235 (GRCm39)	L251P	probably benign	Het
Gli2	T	A	1: 118,781,080 (GRCm39)	S222C	probably damaging	Het
Gsr	A	G	8: 34,159,949 (GRCm39)	E99G	probably damaging	Het
H1f5	T	C	13: 21,964,451 (GRCm39)	T92A	possibly damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hus1b	T	C	13: 31,131,679 (GRCm39)		probably benign	Het
Igf1r	T	A	7: 67,844,774 (GRCm39)	I849N	possibly damaging	Het
Itih5	A	G	2: 10,256,323 (GRCm39)	T930A	probably benign	Het
Ivns1abp	T	A	1: 151,235,860 (GRCm39)	M309K	probably benign	Het
Kdm3b	T	A	18: 34,952,864 (GRCm39)	F1078Y	probably damaging	Het
Krt12	C	A	11: 99,312,792 (GRCm39)	G84V	unknown	Het
Krt40	T	G	11: 99,431,059 (GRCm39)	E150A	probably damaging	Het
Lcn11	G	T	2: 25,669,115 (GRCm39)		probably benign	Het
Lcor	G	T	19: 41,574,502 (GRCm39)	G1086C	probably damaging	Het
Lrrc46	C	T	11: 96,926,997 (GRCm39)	V107M	probably damaging	Het
Ltb4r1	T	C	14: 56,004,832 (GRCm39)	I45T	probably damaging	Het
Mapkbp1	A	G	2: 119,841,554 (GRCm39)		probably benign	Het
Mark3	C	T	12: 111,584,831 (GRCm39)		probably benign	Het
Mug2	C	T	6: 122,036,014 (GRCm39)	A642V	probably benign	Het
Myh11	A	G	16: 14,019,991 (GRCm39)	S1814P	possibly damaging	Het
Ndst1	T	A	18: 60,830,218 (GRCm39)	S631C	probably damaging	Het
Nrbf2	A	T	10: 67,103,691 (GRCm39)	D137E	possibly damaging	Het
Or2ag16	A	T	7: 106,351,989 (GRCm39)	M202K	probably benign	Het
Or51l4	A	G	7: 103,404,183 (GRCm39)	V203A	probably benign	Het
Or6c208	T	A	10: 129,224,090 (GRCm39)	M196K	probably benign	Het
Parn	A	G	16: 13,485,449 (GRCm39)	Y16H	probably damaging	Het
Parp14	A	G	16: 35,664,785 (GRCm39)		probably benign	Het
Prl3d1	C	T	13: 27,283,992 (GRCm39)	T187I	probably benign	Het
Ptgir	G	A	7: 16,641,055 (GRCm39)		probably null	Het
Rabgap1l	C	T	1: 160,059,445 (GRCm39)		probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rnf213	T	C	11: 119,368,055 (GRCm39)	Y4697H	probably benign	Het
Rps6ka4	T	A	19: 6,808,364 (GRCm39)	I598F	probably damaging	Het
Ryr2	C	T	13: 11,684,855 (GRCm39)	V3029M	probably damaging	Het
Slc34a1	T	C	13: 24,003,920 (GRCm39)	F335S	probably damaging	Het
Spata6l	T	C	19: 28,945,032 (GRCm39)	M1V	probably null	Het
Stau2	A	T	1: 16,510,585 (GRCm39)	Y124*	probably null	Het
Tbl3	A	G	17: 24,920,580 (GRCm39)	I652T	probably benign	Het
Trappc3	C	T	4: 126,166,759 (GRCm39)		probably benign	Het
Trim60	A	T	8: 65,454,071 (GRCm39)	F59L	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	T	C	1: 188,648,453 (GRCm39)	F4686S	probably benign	Het
Vcan	T	C	13: 89,840,529 (GRCm39)	T1672A	probably damaging	Het
Vmn1r215	T	A	13: 23,260,758 (GRCm39)	I266N	possibly damaging	Het
Vmn2r6	A	T	3: 64,445,487 (GRCm39)	V657E	possibly damaging	Het
Wdr95	G	T	5: 149,529,802 (GRCm39)	A548S	probably benign	Het
Zfp12	A	G	5: 143,231,500 (GRCm39)	Y609C	probably damaging	Het
Znfx1	C	A	2: 166,897,560 (GRCm39)	E455*	probably null	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
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
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'- GTTTTAAGCTTCCAAACCAGCCACC -3'
(R):5'- GCACTGCATGATGCCGTCTAATTC -3'

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

Posted On

2014-01-05