Mutagenetix > Incidental Mutation

Incidental Mutation 'R5773:Lipi'

445533

Institutional Source

Beutler Lab

Gene Symbol

Lipi

Ensembl Gene

ENSMUSG00000032948

Gene Name

lipase, member I

Synonyms

D930038D03Rik, lpd1

MMRRC Submission

043372-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75337402-75382949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75370813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 135 (T135S)

Ref Sequence

ENSEMBL: ENSMUSP00000053447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062721]

AlphaFold

F6YQT7

Predicted Effect

probably damaging
Transcript: ENSMUST00000062721
AA Change: T135S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit postnatal lethality, tremors, abnormal gait, decreased body weight, retarded hair growth, and a defect in triglyceride metabolism resulting in hypertriglyceridemia and hepatic steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,416,614 (GRCm39)		probably null	Het
Akna	C	T	4: 63,313,307 (GRCm39)	S272N	probably benign	Het
Ap2m1	T	C	16: 20,362,140 (GRCm39)	V416A	probably damaging	Het
Atp7b	A	G	8: 22,517,879 (GRCm39)	F320L	probably benign	Het
Brd1	T	C	15: 88,573,752 (GRCm39)	K1116E	probably benign	Het
Ccdc186	T	C	19: 56,801,919 (GRCm39)	D66G	probably benign	Het
Cdh4	A	G	2: 179,527,789 (GRCm39)	Y503C	probably damaging	Het
Cfb	C	A	17: 35,076,248 (GRCm39)	E166*	probably null	Het
Cmtm1	A	T	8: 105,031,808 (GRCm39)	F90I	probably damaging	Het
Col1a1	A	T	11: 94,830,255 (GRCm39)	K160N	probably benign	Het
Cradd	T	C	10: 95,011,823 (GRCm39)	I106V	probably benign	Het
Defa17	A	G	8: 22,146,574 (GRCm39)	R67G	probably damaging	Het
Dgkh	T	C	14: 78,832,895 (GRCm39)	N765S	probably damaging	Het
Dock5	A	G	14: 68,033,507 (GRCm39)	V954A	possibly damaging	Het
Eif2d	A	G	1: 131,086,040 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,004,040 (GRCm39)	F683I	probably damaging	Het
Fhad1	T	G	4: 141,656,881 (GRCm39)	K91T	probably damaging	Het
Fut11	A	T	14: 20,748,383 (GRCm39)	D476V	probably damaging	Het
Gldn	T	C	9: 54,241,775 (GRCm39)		probably null	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gm8674	T	A	13: 50,055,912 (GRCm39)		noncoding transcript	Het
Gtpbp6	C	A	5: 110,254,757 (GRCm39)	E168D	possibly damaging	Het
Hinfp	T	A	9: 44,210,533 (GRCm39)	H163L	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Ing3	T	A	6: 21,971,834 (GRCm39)	C368S	probably damaging	Het
Itih1	A	G	14: 30,657,356 (GRCm39)	V489A	possibly damaging	Het
Itsn2	T	C	12: 4,757,089 (GRCm39)	L1393P	probably damaging	Het
Kcnj13	T	C	1: 87,314,389 (GRCm39)	T278A	probably damaging	Het
Kntc1	G	A	5: 123,932,220 (GRCm39)	R1338Q	probably damaging	Het
Map7	A	G	10: 20,122,390 (GRCm39)	K152R	probably benign	Het
Mmp24	A	G	2: 155,641,829 (GRCm39)	Y219C	probably damaging	Het
Nup188	T	C	2: 30,212,208 (GRCm39)	V565A	possibly damaging	Het
Nup210	T	C	6: 91,062,865 (GRCm39)	K265E	probably damaging	Het
Or10ak9	A	G	4: 118,726,718 (GRCm39)	T247A	probably damaging	Het
Pcdha6	A	T	18: 37,102,643 (GRCm39)	H612L	probably benign	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pld2	G	T	11: 70,446,758 (GRCm39)	S778I	probably damaging	Het
Ppef2	A	C	5: 92,398,420 (GRCm39)	Y33D	probably damaging	Het
Ppfibp2	A	T	7: 107,285,079 (GRCm39)	T129S	possibly damaging	Het
Prickle1	G	T	15: 93,406,478 (GRCm39)	H182N	probably damaging	Het
R3hdm2	T	A	10: 127,280,172 (GRCm39)		probably benign	Het
Rbm12b1	A	T	4: 12,145,765 (GRCm39)	E579V	probably damaging	Het
Rsf1	GGC	GGCGGCGGCTGC	7: 97,229,140 (GRCm39)		probably benign	Het
Slc1a6	T	G	10: 78,629,111 (GRCm39)		probably null	Het
Slc27a6	G	T	18: 58,715,245 (GRCm39)	A283S	probably damaging	Het
Spats2l	T	A	1: 57,918,708 (GRCm39)	N27K	possibly damaging	Het
Srgap1	T	C	10: 121,732,614 (GRCm39)	M155V	probably benign	Het
Stxbp5l	C	A	16: 37,028,459 (GRCm39)	A535S	probably damaging	Het
Svep1	C	A	4: 58,099,985 (GRCm39)	C1353F	possibly damaging	Het
Taar4	T	A	10: 23,837,056 (GRCm39)	I222N	probably damaging	Het
Tlr6	A	G	5: 65,111,846 (GRCm39)	F354L	probably benign	Het
Trp53bp1	A	G	2: 121,074,395 (GRCm39)	S452P	probably damaging	Het
Ttll5	GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC	G	12: 85,980,329 (GRCm39)		probably null	Het
Usp42	A	T	5: 143,699,467 (GRCm39)	M1264K	probably benign	Het
Zfp865	A	T	7: 5,037,693 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,334,511 (GRCm39)	L169Q	probably damaging	Het
Zmym4	A	T	4: 126,799,163 (GRCm39)	N383K	possibly damaging	Het

Other mutations in Lipi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Lipi	APN	16	75,347,254 (GRCm39)	splice site	probably benign
IGL01863:Lipi	APN	16	75,347,114 (GRCm39)	missense	probably damaging	1.00
R1690:Lipi	UTSW	16	75,338,013 (GRCm39)	missense	probably damaging	1.00
R2045:Lipi	UTSW	16	75,347,087 (GRCm39)	missense	probably damaging	0.98
R4001:Lipi	UTSW	16	75,370,759 (GRCm39)	nonsense	probably null
R4387:Lipi	UTSW	16	75,370,843 (GRCm39)	missense	probably damaging	1.00
R4613:Lipi	UTSW	16	75,357,689 (GRCm39)	missense	probably benign	0.01
R4680:Lipi	UTSW	16	75,362,417 (GRCm39)	critical splice donor site	probably null
R5420:Lipi	UTSW	16	75,352,757 (GRCm39)	missense	possibly damaging	0.82
R5503:Lipi	UTSW	16	75,370,864 (GRCm39)	missense	probably benign	0.11
R5813:Lipi	UTSW	16	75,370,798 (GRCm39)	missense	possibly damaging	0.91
R6312:Lipi	UTSW	16	75,370,803 (GRCm39)	missense	probably damaging	1.00
R6559:Lipi	UTSW	16	75,337,982 (GRCm39)	missense	probably benign	0.31
R7587:Lipi	UTSW	16	75,347,103 (GRCm39)	missense	probably benign	0.00
R7639:Lipi	UTSW	16	75,357,743 (GRCm39)	missense	probably benign	0.03
R8079:Lipi	UTSW	16	75,362,418 (GRCm39)	critical splice donor site	probably null
R8256:Lipi	UTSW	16	75,370,950 (GRCm39)	missense	probably benign	0.00
R8475:Lipi	UTSW	16	75,370,862 (GRCm39)	missense	probably benign	0.00
R8855:Lipi	UTSW	16	75,355,481 (GRCm39)	missense	probably damaging	1.00
R8888:Lipi	UTSW	16	75,352,710 (GRCm39)	missense	probably benign	0.05
R8895:Lipi	UTSW	16	75,352,710 (GRCm39)	missense	probably benign	0.05
R9112:Lipi	UTSW	16	75,359,159 (GRCm39)	missense	probably damaging	1.00
R9182:Lipi	UTSW	16	75,357,673 (GRCm39)	nonsense	probably null
R9198:Lipi	UTSW	16	75,362,461 (GRCm39)	missense	possibly damaging	0.60
R9601:Lipi	UTSW	16	75,352,706 (GRCm39)	missense	possibly damaging	0.94
R9658:Lipi	UTSW	16	75,357,689 (GRCm39)	missense	probably benign	0.01
X0017:Lipi	UTSW	16	75,347,243 (GRCm39)	missense	probably benign	0.00
X0019:Lipi	UTSW	16	75,352,703 (GRCm39)	missense	probably benign
Z1177:Lipi	UTSW	16	75,347,175 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGTTAAAGTTCCAACTGCTTACGG -3'
(R):5'- TGATGTACTCAAGGGGCAAC -3'

Sequencing Primer
(F):5'- GTTCCAACTGCTTACGGAAAAAG -3'
(R):5'- CAAGTGTGCAGAGCCACTCTTTG -3'

Posted On

2016-11-21