Mutagenetix > Incidental Mutation

Incidental Mutation 'R2519:Lipf'

254282

Institutional Source

Beutler Lab

Gene Symbol

Lipf

Ensembl Gene

ENSMUSG00000024768

Gene Name

lipase, gastric

Synonyms

2310051B21Rik

MMRRC Submission

040423-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.288) question?

Stock #

R2519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33938648-33954213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33942925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 78 (V78L)

Ref Sequence

ENSEMBL: ENSMUSP00000025680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025680]

AlphaFold

Q9CPP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000025680
AA Change: V78L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025680
Gene: ENSMUSG00000024768
AA Change: V78L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Abhydro_lipase	34	96	2.9e-27	PFAM
Pfam:Abhydrolase_1	77	377	2.3e-26	PFAM
Pfam:Abhydrolase_5	78	372	1.5e-9	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408J17Rik	G	A	10: 93,425,450 (GRCm39)		probably benign	Het
Abtb3	T	A	10: 85,487,475 (GRCm39)	V981D	probably damaging	Het
Actn1	A	T	12: 80,239,163 (GRCm39)	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,717,956 (GRCm39)	C323R	probably damaging	Het
Adgrf2	T	A	17: 43,021,298 (GRCm39)	I509F	probably damaging	Het
Aknad1	A	T	3: 108,663,784 (GRCm39)	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,072,047 (GRCm39)	D39G	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankhd1	T	G	18: 36,711,596 (GRCm39)		probably null	Het
Arfgef2	T	C	2: 166,723,164 (GRCm39)	S1535P	probably benign	Het
Bicc1	T	C	10: 70,766,474 (GRCm39)	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,180 (GRCm39)	D381E	possibly damaging	Het
Carnmt1	A	G	19: 18,671,075 (GRCm39)	I316V	probably benign	Het
Cdk2ap1rt	A	G	11: 48,716,950 (GRCm39)	I76T	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Coq7	A	T	7: 118,109,371 (GRCm39)	W226R	unknown	Het
Cyp2d9	G	A	15: 82,338,719 (GRCm39)		probably null	Het
Ddx42	T	A	11: 106,136,155 (GRCm39)	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,179,323 (GRCm39)	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,199,857 (GRCm39)	V131A	probably benign	Het
Dock6	T	C	9: 21,727,629 (GRCm39)	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,940,000 (GRCm39)	Y377*	probably null	Het
Eif4g3	T	A	4: 137,824,629 (GRCm39)	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787 (GRCm39)	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,458,114 (GRCm39)	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,544,877 (GRCm39)	Y328*	probably null	Het
Fmo3	A	T	1: 162,785,874 (GRCm39)	V372D	probably damaging	Het
Gsta5	T	G	9: 78,211,721 (GRCm39)	L161R	probably damaging	Het
Gtf2h4	C	A	17: 35,981,801 (GRCm39)	G143W	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn1	A	T	1: 150,649,571 (GRCm39)	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,011,912 (GRCm39)	Q101L	probably damaging	Het
Lgalsl2	A	T	7: 5,362,833 (GRCm39)	I155F	probably damaging	Het
Magi3	T	C	3: 103,923,081 (GRCm39)	E1212G	probably benign	Het
Mfap5	T	C	6: 122,502,948 (GRCm39)	S75P	probably damaging	Het
Mn1	C	A	5: 111,566,418 (GRCm39)	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,659,427 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,157,718 (GRCm39)	I224V	probably damaging	Het
Nup58	T	C	14: 60,460,808 (GRCm39)	T486A	probably benign	Het
Or5m13b	A	G	2: 85,753,951 (GRCm39)	Y113C	probably damaging	Het
Or8b46	T	A	9: 38,450,281 (GRCm39)	V30D	probably damaging	Het
Parp14	A	T	16: 35,678,573 (GRCm39)	L465Q	possibly damaging	Het
Pcare	C	T	17: 72,058,642 (GRCm39)	S345N	probably damaging	Het
Plcd3	A	T	11: 102,971,226 (GRCm39)	I110N	possibly damaging	Het
Prx	A	G	7: 27,217,668 (GRCm39)	E862G	probably benign	Het
Rad50	G	A	11: 53,598,012 (GRCm39)		probably benign	Het
Rbm15	A	G	3: 107,238,149 (GRCm39)	S750P	probably benign	Het
Reln	C	A	5: 22,549,367 (GRCm39)	A14S	unknown	Het
Rph3a	T	C	5: 121,092,485 (GRCm39)	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,777,256 (GRCm39)	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,299,204 (GRCm39)	D122G	probably damaging	Het
Slc25a32	A	T	15: 38,959,450 (GRCm39)	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,735,814 (GRCm39)	S142T	probably benign	Het
Srm	A	G	4: 148,675,961 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,995,870 (GRCm39)	D123G	probably damaging	Het
Stab1	A	T	14: 30,876,829 (GRCm39)	C832S	probably damaging	Het
Stab2	A	C	10: 86,770,704 (GRCm39)		probably benign	Het
Suds3	T	C	5: 117,233,018 (GRCm39)	N282S	probably damaging	Het
Taar9	A	T	10: 23,985,152 (GRCm39)	V94E	probably damaging	Het
Taf2	C	A	15: 54,915,643 (GRCm39)	A428S	probably benign	Het
Tbk1	G	T	10: 121,393,164 (GRCm39)	T462K	probably benign	Het
Tcaf2	T	G	6: 42,606,365 (GRCm39)	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,501,221 (GRCm39)	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714 (GRCm39)	Y523*	probably null	Het
Tpte	T	C	8: 22,823,176 (GRCm39)		probably benign	Het
Trpv5	T	A	6: 41,651,284 (GRCm39)	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,601,550 (GRCm39)	Q457*	probably null	Het
Ush2a	A	T	1: 187,999,304 (GRCm39)	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,295,643 (GRCm39)	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,294,280 (GRCm39)	V789D	probably damaging	Het
Vmn2r99	T	C	17: 19,598,970 (GRCm39)	I218T	probably damaging	Het
Vstm2b	T	C	7: 40,552,299 (GRCm39)	V248A	probably benign	Het
Wnk2	T	C	13: 49,224,505 (GRCm39)	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp229	T	A	17: 21,964,568 (GRCm39)	F266Y	possibly damaging	Het
Zfp616	T	A	11: 73,975,094 (GRCm39)	C454*	probably null	Het

Other mutations in Lipf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01902:Lipf	APN	19	33,948,179 (GRCm39)	missense	probably benign	0.33
IGL02024:Lipf	APN	19	33,953,995 (GRCm39)	missense	probably damaging	1.00
R1427:Lipf	UTSW	19	33,943,000 (GRCm39)	missense	probably damaging	1.00
R1454:Lipf	UTSW	19	33,948,132 (GRCm39)	splice site	probably benign
R1484:Lipf	UTSW	19	33,942,180 (GRCm39)	missense	probably benign	0.00
R1636:Lipf	UTSW	19	33,953,935 (GRCm39)	missense	probably damaging	1.00
R1720:Lipf	UTSW	19	33,943,066 (GRCm39)	nonsense	probably null
R1916:Lipf	UTSW	19	33,943,075 (GRCm39)	missense	probably benign	0.07
R2010:Lipf	UTSW	19	33,950,946 (GRCm39)	missense	probably benign
R2937:Lipf	UTSW	19	33,950,438 (GRCm39)	missense	probably damaging	1.00
R4063:Lipf	UTSW	19	33,942,965 (GRCm39)	missense	probably benign	0.43
R4640:Lipf	UTSW	19	33,946,197 (GRCm39)	missense	probably damaging	0.98
R4671:Lipf	UTSW	19	33,954,076 (GRCm39)	missense	possibly damaging	0.94
R4818:Lipf	UTSW	19	33,943,088 (GRCm39)	missense	probably benign	0.04
R5619:Lipf	UTSW	19	33,944,292 (GRCm39)	missense	possibly damaging	0.95
R6034:Lipf	UTSW	19	33,942,289 (GRCm39)	missense	probably benign
R6034:Lipf	UTSW	19	33,942,289 (GRCm39)	missense	probably benign
R6045:Lipf	UTSW	19	33,944,244 (GRCm39)	missense	probably damaging	1.00
R6464:Lipf	UTSW	19	33,950,944 (GRCm39)	missense	probably benign	0.00
R7502:Lipf	UTSW	19	33,954,006 (GRCm39)	missense	probably damaging	1.00
R7649:Lipf	UTSW	19	33,943,098 (GRCm39)	missense	possibly damaging	0.84
R7713:Lipf	UTSW	19	33,950,465 (GRCm39)	missense	probably damaging	1.00
R7714:Lipf	UTSW	19	33,943,048 (GRCm39)	missense	probably damaging	1.00
R8203:Lipf	UTSW	19	33,944,283 (GRCm39)	missense	probably benign	0.00
R8804:Lipf	UTSW	19	33,942,198 (GRCm39)	missense	probably damaging	1.00
R8971:Lipf	UTSW	19	33,942,273 (GRCm39)	missense	probably benign
Z1176:Lipf	UTSW	19	33,942,995 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCCCATTTCATTTCTGGCATATAA -3'
(R):5'- GCCCAGAATTCAACTGAGTCTG -3'

Sequencing Primer
(F):5'- AGAAGATCAGATGTCCTCTTCTGGC -3'
(R):5'- GAATTCAACTGAGTCTGGTGAATAG -3'

Posted On

2014-12-04