Mutagenetix > Incidental Mutation

Incidental Mutation 'R4063:Lipf'

315993

Institutional Source

Beutler Lab

Gene Symbol

Lipf

Ensembl Gene

ENSMUSG00000024768

Gene Name

lipase, gastric

Synonyms

2310051B21Rik

MMRRC Submission

041619-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R4063 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33938648-33954213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33942965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 91 (N91S)

Ref Sequence

ENSEMBL: ENSMUSP00000025680 (fasta)

Gene Model

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

AlphaFold

Q9CPP7

Predicted Effect

probably benign
Transcript: ENSMUST00000025680
AA Change: N91S

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025680
Gene: ENSMUSG00000024768
AA Change: N91S

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

0.0694

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (59/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	T	6: 146,854,606 (GRCm39)	F145L	probably benign	Het
Abcc9	T	C	6: 142,551,645 (GRCm39)	D1221G	possibly damaging	Het
Adamtsl4	T	C	3: 95,584,864 (GRCm39)	K935E	probably benign	Het
Ago4	A	T	4: 126,409,655 (GRCm39)		probably benign	Het
Arhgef28	T	C	13: 98,130,575 (GRCm39)	D421G	probably benign	Het
Armh4	T	A	14: 50,011,444 (GRCm39)	M88L	probably benign	Het
Atl2	T	C	17: 80,157,588 (GRCm39)	*413W	probably null	Het
B4galt7	C	A	13: 55,756,152 (GRCm39)		probably null	Het
Bltp3b	A	G	10: 89,651,917 (GRCm39)	N247S	probably benign	Het
C8g	A	T	2: 25,389,425 (GRCm39)	S147T	probably damaging	Het
Clstn3	A	T	6: 124,426,792 (GRCm39)	Y510N	possibly damaging	Het
Cnot2	A	G	10: 116,373,301 (GRCm39)	V34A	possibly damaging	Het
Cyb5d2	A	T	11: 72,686,606 (GRCm39)		probably benign	Het
Dnah5	T	C	15: 28,421,144 (GRCm39)	I3827T	probably damaging	Het
Dnah7a	G	T	1: 53,464,376 (GRCm39)	Q3672K	probably benign	Het
Dock1	A	T	7: 134,717,021 (GRCm39)	Y1219F	possibly damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Gm10719	G	T	9: 3,019,043 (GRCm39)	W96L	probably damaging	Het
H2-M2	G	A	17: 37,792,399 (GRCm39)	H291Y	probably damaging	Het
Hmgcl	T	C	4: 135,686,035 (GRCm39)	Y167H	probably damaging	Het
Il22ra2	A	T	10: 19,502,400 (GRCm39)	D73V	possibly damaging	Het
Incenp	A	T	19: 9,861,142 (GRCm39)	M480K	unknown	Het
Irag1	G	T	7: 110,522,984 (GRCm39)	A359D	probably benign	Het
Kdm6a	A	G	X: 18,117,114 (GRCm39)	T266A	probably benign	Het
M1ap	A	T	6: 82,980,756 (GRCm39)	N214I	probably damaging	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Mdga1	A	G	17: 30,057,005 (GRCm39)	C826R	probably damaging	Het
Msx1	C	A	5: 37,981,365 (GRCm39)	A105S	probably benign	Het
Or5ac23	A	C	16: 59,149,243 (GRCm39)	S210A	probably benign	Het
Otogl	A	T	10: 107,626,510 (GRCm39)	D1451E	probably benign	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Ppp1r13l	A	T	7: 19,103,978 (GRCm39)	H153L	probably benign	Het
Pramel21	A	G	4: 143,342,559 (GRCm39)	D222G	possibly damaging	Het
Pramel29	T	C	4: 143,935,265 (GRCm39)	K161E	possibly damaging	Het
Proz	A	G	8: 13,114,621 (GRCm39)	Y85C	probably damaging	Het
Prss50	A	G	9: 110,687,480 (GRCm39)	D141G	probably benign	Het
Rad54l2	T	A	9: 106,597,613 (GRCm39)	Q131L	probably benign	Het
Sdha	A	G	13: 74,472,077 (GRCm39)		probably benign	Het
Sema3d	T	A	5: 12,635,091 (GRCm39)	I719N	probably benign	Het
Slc18b1	A	T	10: 23,681,879 (GRCm39)	I148L	probably benign	Het
Tacc2	G	T	7: 130,330,852 (GRCm39)	D2086Y	probably damaging	Het
Tchh	T	C	3: 93,354,298 (GRCm39)	L1246P	unknown	Het
Tmprss11d	T	C	5: 86,457,177 (GRCm39)	I161V	probably benign	Het
Trpc3	T	C	3: 36,725,172 (GRCm39)	D268G	probably damaging	Het
Trpm8	G	A	1: 88,289,727 (GRCm39)	R895H	probably damaging	Het
Txndc2	A	G	17: 65,945,079 (GRCm39)	I366T	possibly damaging	Het
Ugt2a3	T	C	5: 87,484,725 (GRCm39)	I100V	probably benign	Het
Upp1	C	A	11: 9,081,709 (GRCm39)	P82Q	probably damaging	Het
Vim	A	G	2: 13,584,827 (GRCm39)		probably null	Het
Vmn2r12	A	T	5: 109,240,058 (GRCm39)	N168K	possibly damaging	Het
Zdhhc14	G	T	17: 5,802,983 (GRCm39)	C362F	probably damaging	Het
Zfp292	A	G	4: 34,810,863 (GRCm39)	V727A	probably damaging	Het
Zswim5	G	A	4: 116,735,177 (GRCm39)	G174D	unknown	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
R2519:Lipf	UTSW	19	33,942,925 (GRCm39)	missense	probably damaging	0.99
R2937:Lipf	UTSW	19	33,950,438 (GRCm39)	missense	probably damaging	1.00
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'- TTTGGCACATGAGACACAATTGAG -3'
(R):5'- AGAATGGCCATGCTTGTAGATC -3'

Sequencing Primer
(F):5'- GCACATGAGACACAATTGAGAAAAG -3'
(R):5'- GGCCATGCTTGTAGATCCCAAATG -3'

Posted On

2015-05-15