Incidental Mutation 'IGL01902:Lipf'
| ID |
179555 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lipf
|
| Ensembl Gene |
ENSMUSG00000024768 |
| Gene Name |
lipase, gastric |
| Synonyms |
2310051B21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
IGL01902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
33938648-33954213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33948179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 234
(N234Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025680]
|
| AlphaFold |
Q9CPP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025680
AA Change: N234Y
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025680
Gene: ENSMUSG00000024768
AA Change: N234Y
| 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 |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,147,267 (GRCm39) |
S228P |
probably damaging |
Het |
| Adamtsl2 |
A |
T |
2: 26,977,264 (GRCm39) |
I242F |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,789,933 (GRCm39) |
L284P |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,309,181 (GRCm39) |
I138T |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,731 (GRCm39) |
L2704S |
probably damaging |
Het |
| Col7a1 |
C |
A |
9: 108,806,895 (GRCm39) |
P2442T |
unknown |
Het |
| Cpne6 |
A |
T |
14: 55,750,207 (GRCm39) |
T113S |
possibly damaging |
Het |
| Crnkl1 |
T |
C |
2: 145,766,632 (GRCm39) |
|
probably null |
Het |
| Cyp2c67 |
T |
A |
19: 39,637,470 (GRCm39) |
D2V |
probably damaging |
Het |
| Frzb |
T |
A |
2: 80,243,711 (GRCm39) |
S323C |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Ins2 |
C |
T |
7: 142,233,179 (GRCm39) |
C31Y |
probably damaging |
Het |
| Mtf1 |
T |
C |
4: 124,698,720 (GRCm39) |
F73L |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,395,919 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
A |
G |
12: 82,025,868 (GRCm39) |
T1538A |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,940,732 (GRCm39) |
V47D |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,096,002 (GRCm39) |
E502G |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,156,934 (GRCm39) |
V1886M |
probably damaging |
Het |
| Rapgef3 |
T |
A |
15: 97,648,181 (GRCm39) |
H676L |
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,829,422 (GRCm39) |
N607Y |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,237,132 (GRCm39) |
T233I |
possibly damaging |
Het |
| Snx13 |
A |
T |
12: 35,183,306 (GRCm39) |
|
probably null |
Het |
| Suz12 |
T |
A |
11: 79,916,776 (GRCm39) |
C510S |
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,795,756 (GRCm39) |
M242K |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,103,548 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Lipf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation