Incidental Mutation 'R5619:Lipf'
ID 439752
Institutional Source Beutler Lab
Gene Symbol Lipf
Ensembl Gene ENSMUSG00000024768
Gene Name lipase, gastric
Synonyms 2310051B21Rik
MMRRC Submission 043278-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R5619 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 33938648-33954213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33944292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 167 (Y167F)
Ref Sequence ENSEMBL: ENSMUSP00000025680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025680]
AlphaFold Q9CPP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000025680
AA Change: Y167F

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025680
Gene: ENSMUSG00000024768
AA Change: Y167F

DomainStartEndE-ValueType
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 0.1793 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 99% (80/81)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Adgre1 T G 17: 57,727,437 (GRCm39) L456V probably benign Het
Adgrv1 C T 13: 81,620,619 (GRCm39) G3943R probably damaging Het
Akap9 A G 5: 4,004,760 (GRCm39) probably benign Het
Atp1a2 T A 1: 172,106,948 (GRCm39) I791F probably damaging Het
BC004004 C G 17: 29,501,703 (GRCm39) P81A probably damaging Het
Brca2 C A 5: 150,480,579 (GRCm39) T2755K probably damaging Het
Cacna1c T C 6: 118,719,322 (GRCm39) D215G probably damaging Het
Ccdc142 C T 6: 83,080,603 (GRCm39) S445F probably benign Het
Comt T C 16: 18,230,469 (GRCm39) E80G probably damaging Het
Coq7 T C 7: 118,126,709 (GRCm39) probably benign Het
Coro7 C A 16: 4,494,799 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,792,228 (GRCm39) S239P probably damaging Het
Dnah5 T C 15: 28,302,581 (GRCm39) S1613P probably damaging Het
Dync2h1 T C 9: 7,118,885 (GRCm39) I2193M probably benign Het
Eipr1 A G 12: 28,917,078 (GRCm39) Y382C probably damaging Het
Fastkd2 T A 1: 63,778,469 (GRCm39) H447Q probably benign Het
Galk2 A T 2: 125,817,317 (GRCm39) R369* probably null Het
Gli2 G A 1: 118,764,485 (GRCm39) A1222V probably benign Het
Golim4 T A 3: 75,813,802 (GRCm39) K141* probably null Het
Gtpbp3 G T 8: 71,943,692 (GRCm39) probably benign Het
Gzmd C T 14: 56,367,224 (GRCm39) A223T probably benign Het
Igf2r T C 17: 12,958,221 (GRCm39) R151G probably damaging Het
Itga8 T A 2: 12,270,139 (GRCm39) R116W probably damaging Het
Klhdc1 T G 12: 69,304,919 (GRCm39) probably null Het
Klhl25 T C 7: 75,516,602 (GRCm39) Y198H probably benign Het
Klhl29 A T 12: 5,190,587 (GRCm39) M136K probably benign Het
Lpar1 T C 4: 58,487,155 (GRCm39) K39E possibly damaging Het
Mbtd1 T A 11: 93,820,705 (GRCm39) probably null Het
Myo1a T A 10: 127,554,413 (GRCm39) N794K probably benign Het
Nmrk1 T C 19: 18,622,452 (GRCm39) L177P possibly damaging Het
Noxa1 C T 2: 24,975,988 (GRCm39) E401K probably damaging Het
Or10g9b T A 9: 39,918,039 (GRCm39) M69L probably benign Het
Or4f53 A T 2: 111,087,856 (GRCm39) Y132F probably damaging Het
Ostm1 T A 10: 42,555,325 (GRCm39) C116S probably damaging Het
Pcdhga7 T C 18: 37,848,800 (GRCm39) I269T probably benign Het
Pfkfb3 T C 2: 11,489,470 (GRCm39) K276R probably benign Het
Pfkp A T 13: 6,648,765 (GRCm39) probably benign Het
Pitpnm1 A G 19: 4,153,270 (GRCm39) D142G probably damaging Het
Pkp3 T C 7: 140,668,419 (GRCm39) L556P probably damaging Het
Plb1 C A 5: 32,490,841 (GRCm39) T1046N probably damaging Het
Plxnb2 T C 15: 89,047,012 (GRCm39) S770G possibly damaging Het
Polk A T 13: 96,620,064 (GRCm39) I733N probably damaging Het
Potegl T C 2: 23,147,017 (GRCm39) probably null Het
Prkg2 C A 5: 99,136,156 (GRCm39) C301F probably damaging Het
Rabgap1l T C 1: 160,066,142 (GRCm39) T189A probably benign Het
Raph1 T C 1: 60,529,414 (GRCm39) probably benign Het
Rbm22 T A 18: 60,693,899 (GRCm39) M1K probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf186 T A 4: 138,694,715 (GRCm39) I85N probably benign Het
Ryr2 C A 13: 11,723,088 (GRCm39) R2517L probably damaging Het
Sec63 T A 10: 42,665,378 (GRCm39) Y103N probably damaging Het
Serpinb3a G A 1: 106,974,838 (GRCm39) P232S probably damaging Het
Slco6d1 C A 1: 98,423,947 (GRCm39) T533K probably damaging Het
Smarcad1 T A 6: 65,088,865 (GRCm39) D1000E probably benign Het
Spata46 A T 1: 170,136,490 (GRCm39) I14F probably damaging Het
Speer4b T C 5: 27,703,815 (GRCm39) H106R possibly damaging Het
Spint4 T C 2: 164,542,761 (GRCm39) L118P probably benign Het
Sptbn5 A G 2: 119,880,613 (GRCm39) noncoding transcript Het
Tgfbr3 A T 5: 107,288,380 (GRCm39) I427N probably benign Het
Thbs2 C A 17: 14,901,506 (GRCm39) C491F probably damaging Het
Tmem232 T A 17: 65,793,506 (GRCm39) E64D probably benign Het
Tnpo3 A T 6: 29,565,197 (GRCm39) C585* probably null Het
Ttc13 A T 8: 125,406,683 (GRCm39) probably benign Het
Tuba8 C T 6: 121,202,854 (GRCm39) A389V probably damaging Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Usp25 A G 16: 76,830,833 (GRCm39) I30V probably benign Het
Vmn2r31 T A 7: 7,387,529 (GRCm39) K681* probably null Het
Vmn2r88 A G 14: 51,651,367 (GRCm39) E235G probably damaging Het
Vps29 T A 5: 122,492,511 (GRCm39) probably benign Het
Wdr1 A C 5: 38,686,879 (GRCm39) V568G possibly damaging Het
Zfp64 T G 2: 168,741,734 (GRCm39) Q398P probably damaging Het
Zfp64 G T 2: 168,741,735 (GRCm39) Q398K probably damaging Het
Zfp839 T C 12: 110,830,470 (GRCm39) Y398H probably damaging Het
Other mutations in Lipf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ATGTGGGCCTAAGAACCAGG -3'
(R):5'- CCTTTGGATGGAGTTGATGCCAC -3'

Sequencing Primer
(F):5'- TGGGCCTAAGAACCAGGTTGAG -3'
(R):5'- TACTGTTTGATTTATCCATCTCTGGG -3'
Posted On 2016-11-08