Incidental Mutation 'R1427:Lipf'
| ID |
161373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipf
|
| Ensembl Gene |
ENSMUSG00000024768 |
| Gene Name |
lipase, gastric |
| Synonyms |
2310051B21Rik |
| MMRRC Submission |
039483-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.288)
|
| Stock # |
R1427 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
33938648-33954213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33943000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 103
(F103L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025680]
|
| AlphaFold |
Q9CPP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025680
AA Change: F103L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025680
Gene: ENSMUSG00000024768
AA Change: F103L
| 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: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.4%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
G |
4: 144,349,610 (GRCm39) |
N289S |
probably damaging |
Het |
| Abhd12b |
A |
G |
12: 70,229,193 (GRCm39) |
D223G |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,681,691 (GRCm39) |
T333A |
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Clcnkb |
A |
G |
4: 141,132,620 (GRCm39) |
L603P |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,415,398 (GRCm39) |
D626G |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,911,225 (GRCm39) |
Y285H |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,893,030 (GRCm39) |
T945A |
probably benign |
Het |
| Iars1 |
A |
T |
13: 49,857,745 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 33,796,124 (GRCm39) |
F1217S |
probably damaging |
Het |
| Lpar2 |
C |
A |
8: 70,276,700 (GRCm39) |
A163E |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,110,573 (GRCm39) |
Y1495H |
probably damaging |
Het |
| Or5p63 |
A |
G |
7: 107,811,301 (GRCm39) |
I145T |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,627,675 (GRCm39) |
L413H |
probably damaging |
Het |
| Ptpn7 |
T |
C |
1: 135,062,192 (GRCm39) |
V46A |
possibly damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,378,609 (GRCm39) |
R808C |
probably damaging |
Het |
| Slc25a26 |
T |
C |
6: 94,487,828 (GRCm39) |
S96P |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,969,456 (GRCm39) |
R898W |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,492,255 (GRCm39) |
V1063A |
probably benign |
Het |
| Tm6sf2 |
T |
G |
8: 70,528,232 (GRCm39) |
M127R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,583,448 (GRCm39) |
W22482R |
probably damaging |
Het |
| Zfp384 |
T |
C |
6: 125,001,847 (GRCm39) |
L109P |
probably damaging |
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 |
|
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 |
|
|
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'- CGGTATAAACTCCTTCCATCCCCTCA -3'
(R):5'- TGCTTGTAGATCCCAAATGTGTGTCC -3'
Sequencing Primer
(F):5'- atggttcacataaacacatacagg -3'
(R):5'- GTGTGTCCATTTTGAATTATTCTCC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation