Incidental Mutation 'R6034:Lipf'
ID 480588
Institutional Source Beutler Lab
Gene Symbol Lipf
Ensembl Gene ENSMUSG00000024768
Gene Name lipase, gastric
Synonyms 2310051B21Rik
MMRRC Submission 044206-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R6034 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 33938648-33954213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33942289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 73 (I73T)
Ref Sequence ENSEMBL: ENSMUSP00000025680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025680]
AlphaFold Q9CPP7
Predicted Effect probably benign
Transcript: ENSMUST00000025680
AA Change: I73T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025680
Gene: ENSMUSG00000024768
AA Change: I73T

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.4%
  • 20x: 87.0%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 G T 1: 34,760,984 (GRCm39) G80V unknown Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Atad2 A T 15: 57,971,959 (GRCm39) L306Q probably damaging Het
Atp2b4 T A 1: 133,659,645 (GRCm39) probably null Het
Atp6v1c2 C A 12: 17,357,501 (GRCm39) G95V possibly damaging Het
Birc6 T A 17: 74,922,278 (GRCm39) V2192E probably damaging Het
Catsperb A G 12: 101,542,091 (GRCm39) E597G probably benign Het
Ccdc40 A G 11: 119,133,898 (GRCm39) M556V possibly damaging Het
Ccin G A 4: 43,985,354 (GRCm39) R587K probably benign Het
Cdipt T G 7: 126,577,497 (GRCm39) V81G probably damaging Het
Cert1 A C 13: 96,746,308 (GRCm39) I236L probably benign Het
Cfh T C 1: 140,090,869 (GRCm39) K40E probably damaging Het
Cps1 T A 1: 67,196,872 (GRCm39) probably null Het
Dnah7c A T 1: 46,496,418 (GRCm39) D101V probably benign Het
Fastkd3 T A 13: 68,731,729 (GRCm39) W17R probably damaging Het
H1f4 A G 13: 23,806,296 (GRCm39) L62P probably damaging Het
H2-Ob T C 17: 34,460,192 (GRCm39) V30A probably damaging Het
Hmgxb3 T A 18: 61,265,594 (GRCm39) H1128L probably damaging Het
Hspbp1 A T 7: 4,680,711 (GRCm39) I255N probably damaging Het
Imp4 A G 1: 34,482,537 (GRCm39) D91G probably damaging Het
Itprid1 T A 6: 55,944,666 (GRCm39) D462E possibly damaging Het
Kcnip4 G T 5: 48,548,283 (GRCm39) R241S possibly damaging Het
Lilra5 T C 7: 4,245,133 (GRCm39) L259P probably benign Het
Lsm7 T C 10: 80,688,742 (GRCm39) probably null Het
Luzp2 T A 7: 54,816,972 (GRCm39) L141M probably damaging Het
Malrd1 T A 2: 15,850,137 (GRCm39) V1252E possibly damaging Het
Map10 T C 8: 126,399,205 (GRCm39) L866P probably damaging Het
Mink1 AAGCAGCAGCAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAGCAG 11: 70,497,866 (GRCm39) probably benign Het
Mpp2 T C 11: 101,952,460 (GRCm39) I355V possibly damaging Het
Mtrf1l T A 10: 5,773,834 (GRCm39) probably benign Het
Myo5c A T 9: 75,163,187 (GRCm39) T339S probably benign Het
Naa15 A G 3: 51,350,242 (GRCm39) D163G probably damaging Het
Oosp2 A G 19: 11,628,879 (GRCm39) F74S probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4f7 T A 2: 111,644,702 (GRCm39) Y123F probably damaging Het
Pard3 C G 8: 127,791,077 (GRCm39) probably benign Het
Pcdha1 T A 18: 37,063,651 (GRCm39) I105N probably damaging Het
Pcdhgb8 A G 18: 37,895,601 (GRCm39) T224A possibly damaging Het
Phf12 A G 11: 77,908,895 (GRCm39) N325S probably benign Het
Prom1 T A 5: 44,201,750 (GRCm39) probably null Het
Raet1e A G 10: 22,057,990 (GRCm39) *252W probably null Het
Sap130 T C 18: 31,822,459 (GRCm39) V655A possibly damaging Het
Sec16b A T 1: 157,380,509 (GRCm39) K360I probably damaging Het
Sec23ip C T 7: 128,351,927 (GRCm39) T101I possibly damaging Het
Selenoo A G 15: 88,983,546 (GRCm39) K529R probably benign Het
Slc22a15 A G 3: 101,770,235 (GRCm39) F451L possibly damaging Het
St6gal2 T A 17: 55,789,982 (GRCm39) S339T probably benign Het
Stard13 A T 5: 151,018,965 (GRCm39) probably null Het
Synm A G 7: 67,384,653 (GRCm39) V561A probably damaging Het
Tc2n A T 12: 101,617,460 (GRCm39) probably null Het
Ugt2b36 T A 5: 87,229,377 (GRCm39) D236V probably damaging Het
Vmn1r65 A G 7: 6,011,868 (GRCm39) L122P probably damaging Het
Zc3h14 T C 12: 98,737,632 (GRCm39) S40P probably benign Het
Zc3hav1l C A 6: 38,272,215 (GRCm39) G185C probably damaging Het
Zfp563 G A 17: 33,323,935 (GRCm39) A177T 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
R5619:Lipf UTSW 19 33,944,292 (GRCm39) missense possibly damaging 0.95
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
Posted On 2017-06-26