Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01863:Lipi'

178427

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lipi

Ensembl Gene

ENSMUSG00000032948

Gene Name

lipase, member I

Synonyms

lpd1, D930038D03Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

75540514-75586061 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 75550226 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 435 (I435R)

Ref Sequence

ENSEMBL: ENSMUSP00000053447 (fasta)

Predicted Effect

probably damaging
Transcript: ENSMUST00000062721
AA Change: I435R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186809

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Armc4	T	C	18: 7,222,617	T551A	probably damaging	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Esf1	A	T	2: 140,120,679	M824K	probably benign	Het
Fam46c	C	T	3: 100,472,664	D259N	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lrrc6	A	T	15: 66,396,974		probably benign	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Optn	A	T	2: 5,021,487		probably benign	Het
Pex1	A	G	5: 3,606,066	T298A	probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc30a1	T	A	1: 191,909,084	C281S	probably damaging	Het
Slc4a7	T	A	14: 14,762,430	C509S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Tbc1d2	A	G	4: 46,607,064	I782T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	Het
Wrap73	A	G	4: 154,145,333	I54V	probably benign	Het

Other mutations in Lipi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Lipi	APN	16	75550366	splice site	probably benign
R1690:Lipi	UTSW	16	75541125	missense	probably damaging	1.00
R2045:Lipi	UTSW	16	75550199	missense	probably damaging	0.98
R4001:Lipi	UTSW	16	75573871	nonsense	probably null
R4387:Lipi	UTSW	16	75573955	missense	probably damaging	1.00
R4613:Lipi	UTSW	16	75560801	missense	probably benign	0.01
R4680:Lipi	UTSW	16	75565529	critical splice donor site	probably null
R5420:Lipi	UTSW	16	75555869	missense	possibly damaging	0.82
R5503:Lipi	UTSW	16	75573976	missense	probably benign	0.11
R5773:Lipi	UTSW	16	75573925	missense	probably damaging	1.00
R5813:Lipi	UTSW	16	75573910	missense	possibly damaging	0.91
R6312:Lipi	UTSW	16	75573915	missense	probably damaging	1.00
R6559:Lipi	UTSW	16	75541094	missense	probably benign	0.31
R7587:Lipi	UTSW	16	75550215	missense	probably benign	0.00
R7639:Lipi	UTSW	16	75560855	missense	probably benign	0.03
R8079:Lipi	UTSW	16	75565530	critical splice donor site	probably null
R8256:Lipi	UTSW	16	75574062	missense	probably benign	0.00
X0017:Lipi	UTSW	16	75550355	missense	probably benign	0.00
X0019:Lipi	UTSW	16	75555815	missense	probably benign
Z1177:Lipi	UTSW	16	75550287	missense	probably benign	0.01

Posted On

2014-05-07