Mutagenetix > Incidental Mutation

Incidental Mutation 'R4671:Lipf'

348476

Institutional Source

Beutler Lab

Gene Symbol

Lipf

Ensembl Gene

ENSMUSG00000024768

Gene Name

lipase, gastric

Synonyms

2310051B21Rik

Accession Numbers

Essential gene?

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

Stock #

R4671 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33938648-33954213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 33954076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 389 (V389G)

Ref Sequence

ENSEMBL: ENSMUSP00000025680 (fasta)

Gene Model

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

AlphaFold

Q9CPP7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025680
AA Change: V389G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025680
Gene: ENSMUSG00000024768
AA Change: V389G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,789,157 (GRCm39)	S271P	probably benign	Het
Acod1	T	G	14: 103,284,508 (GRCm39)	M2R	probably benign	Het
Adamts20	T	C	15: 94,301,206 (GRCm39)	E106G	possibly damaging	Het
Adgra3	G	A	5: 50,136,710 (GRCm39)	T661M	probably damaging	Het
Akap13	T	A	7: 75,229,312 (GRCm39)	C161*	probably null	Het
Akr1c12	A	C	13: 4,323,816 (GRCm39)	S162A	possibly damaging	Het
Anks1	C	A	17: 28,270,552 (GRCm39)	H805N	probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Banf1	T	C	19: 5,415,872 (GRCm39)	R33G	probably benign	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cacna1c	G	T	6: 118,629,019 (GRCm39)	H1240N	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Ccdc127	T	A	13: 74,505,164 (GRCm39)	Y237*	probably null	Het
Ccnb1ip1	A	T	14: 51,029,734 (GRCm39)	Y109*	probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Cps1	A	G	1: 67,235,719 (GRCm39)	Y951C	probably damaging	Het
Dcakd	T	C	11: 102,890,634 (GRCm39)	E51G	possibly damaging	Het
Dennd4a	A	T	9: 64,801,689 (GRCm39)	N944I	probably benign	Het
Dus3l	C	T	17: 57,075,566 (GRCm39)	R430C	probably benign	Het
Dync2h1	A	G	9: 7,169,640 (GRCm39)	L279P	possibly damaging	Het
Dzip3	G	A	16: 48,799,953 (GRCm39)	Q112*	probably null	Het
Eif1ad	T	A	19: 5,418,219 (GRCm39)	M1K	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fancg	T	C	4: 43,005,272 (GRCm39)	E366G	probably benign	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm11938	A	T	11: 99,493,832 (GRCm39)	C88S	possibly damaging	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Gucy2g	T	A	19: 55,226,500 (GRCm39)	I139F	probably damaging	Het
Iqub	A	T	6: 24,479,183 (GRCm39)	M453K	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kif23	A	T	9: 61,852,641 (GRCm39)	D24E	probably benign	Het
Kmt2c	T	C	5: 25,571,175 (GRCm39)	N845S	probably damaging	Het
Lhx5	G	A	5: 120,578,032 (GRCm39)	S284N	probably benign	Het
Lrrc7	C	T	3: 157,908,132 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,657,768 (GRCm39)		probably null	Het
Mast2	A	G	4: 116,165,847 (GRCm39)	S1287P	probably damaging	Het
Mepce	C	T	5: 137,784,905 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,382,691 (GRCm39)	V173A	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or1n2	G	A	2: 36,797,405 (GRCm39)	C149Y	probably benign	Het
Or2j6	T	G	7: 139,980,218 (GRCm39)	Y247S	probably damaging	Het
Or4k44	A	T	2: 111,368,280 (GRCm39)	M118K	probably damaging	Het
Or51e2	A	G	7: 102,391,808 (GRCm39)	V134A	probably damaging	Het
Or56a3b	T	C	7: 104,771,513 (GRCm39)	L283P	probably damaging	Het
Parp14	A	G	16: 35,678,691 (GRCm39)	F426L	probably benign	Het
Pcf11	A	T	7: 92,306,737 (GRCm39)	S1144T	possibly damaging	Het
Prpf3	T	A	3: 95,758,976 (GRCm39)	T59S	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptk7	A	G	17: 46,885,392 (GRCm39)	V678A	probably benign	Het
Rb1	A	G	14: 73,511,116 (GRCm39)	L331S	probably damaging	Het
Relch	A	G	1: 105,646,584 (GRCm39)	I637V	probably benign	Het
Sell	A	G	1: 163,893,042 (GRCm39)	Y86C	probably damaging	Het
Serpina1e	G	A	12: 103,914,341 (GRCm39)	R328W	probably damaging	Het
Sertad3	T	G	7: 27,176,091 (GRCm39)	L175R	possibly damaging	Het
Stard9	G	T	2: 120,529,121 (GRCm39)	G1793W	probably damaging	Het
Stra6	T	C	9: 58,056,517 (GRCm39)	I383T	probably benign	Het
Tcf7l1	A	G	6: 72,626,161 (GRCm39)	L154P	probably damaging	Het
Tent5c	C	A	3: 100,380,515 (GRCm39)	L80F	probably benign	Het
Tonsl	A	T	15: 76,507,610 (GRCm39)	D55E	probably benign	Het
Ttc21b	A	G	2: 66,057,257 (GRCm39)	S572P	possibly damaging	Het
Ttc7	T	A	17: 87,654,048 (GRCm39)	L575Q	probably damaging	Het
Ubl4b	C	T	3: 107,462,194 (GRCm39)	S22N	probably damaging	Het
Ubr4	T	C	4: 139,163,502 (GRCm39)	V2634A	possibly damaging	Het
Zbed6	A	G	1: 133,584,778 (GRCm39)	V853A	probably benign	Het
Zfp46	A	C	4: 136,017,484 (GRCm39)	D106A	probably damaging	Het
Zfp951	A	C	5: 104,962,567 (GRCm39)	I333S	probably benign	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
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
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'- CAATTGCAGTGTGGAACGGTG -3'
(R):5'- TGCCTCAGAAATGTATTCTCTCAG -3'

Sequencing Primer
(F):5'- AACGGTGGCCATGACATC -3'
(R):5'- TCAGAAATGTATTCTCTCAGTGTTTC -3'

Posted On

2015-10-08