Incidental Mutation 'IGL01863:Lipi'
ID |
178427 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lipi
|
Ensembl Gene |
ENSMUSG00000032948 |
Gene Name |
lipase, member I |
Synonyms |
D930038D03Rik, lpd1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL01863
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
75337402-75382949 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 75347114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Arginine
at position 435
(I435R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062721]
|
AlphaFold |
F6YQT7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062721
AA Change: I435R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186809
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit postnatal lethality, tremors, abnormal gait, decreased body weight, retarded hair growth, and a defect in triglyceride metabolism resulting in hypertriglyceridemia and hepatic steatosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
A |
10: 42,215,907 (GRCm39) |
I326F |
possibly damaging |
Het |
Aimp1 |
T |
C |
3: 132,377,853 (GRCm39) |
T171A |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,813 (GRCm39) |
L1564* |
probably null |
Het |
Atp1a1 |
G |
T |
3: 101,499,205 (GRCm39) |
Y131* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,301,338 (GRCm39) |
E2686G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,743,770 (GRCm39) |
V395A |
possibly damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,268,823 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,387,088 (GRCm39) |
Q713R |
probably benign |
Het |
Esf1 |
A |
T |
2: 139,962,599 (GRCm39) |
M824K |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,024,768 (GRCm39) |
|
probably benign |
Het |
Gem |
A |
G |
4: 11,705,980 (GRCm39) |
I23V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,744 (GRCm39) |
E779G |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,552,993 (GRCm39) |
|
probably benign |
Het |
Odad2 |
T |
C |
18: 7,222,617 (GRCm39) |
T551A |
probably damaging |
Het |
Omg |
C |
T |
11: 79,393,050 (GRCm39) |
M269I |
probably benign |
Het |
Optn |
A |
T |
2: 5,026,298 (GRCm39) |
|
probably benign |
Het |
Or5ae2 |
T |
C |
7: 84,505,619 (GRCm39) |
L14P |
probably damaging |
Het |
Pex1 |
A |
G |
5: 3,656,066 (GRCm39) |
T298A |
probably benign |
Het |
Rab27b |
T |
A |
18: 70,122,625 (GRCm39) |
R111S |
probably damaging |
Het |
Rhbdf1 |
T |
G |
11: 32,163,484 (GRCm39) |
E329D |
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,400,695 (GRCm39) |
I176V |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,641,196 (GRCm39) |
C281S |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,762,430 (GRCm38) |
C509S |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,872,151 (GRCm39) |
R862G |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,607,064 (GRCm39) |
I782T |
possibly damaging |
Het |
Tent5c |
C |
T |
3: 100,379,980 (GRCm39) |
D259N |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps33b |
T |
C |
7: 79,924,059 (GRCm39) |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,229,790 (GRCm39) |
I54V |
probably benign |
Het |
|
Other mutations in Lipi |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00772:Lipi
|
APN |
16 |
75,347,254 (GRCm39) |
splice site |
probably benign |
|
R1690:Lipi
|
UTSW |
16 |
75,338,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R2045:Lipi
|
UTSW |
16 |
75,347,087 (GRCm39) |
missense |
probably damaging |
0.98 |
R4001:Lipi
|
UTSW |
16 |
75,370,759 (GRCm39) |
nonsense |
probably null |
|
R4387:Lipi
|
UTSW |
16 |
75,370,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R4613:Lipi
|
UTSW |
16 |
75,357,689 (GRCm39) |
missense |
probably benign |
0.01 |
R4680:Lipi
|
UTSW |
16 |
75,362,417 (GRCm39) |
critical splice donor site |
probably null |
|
R5420:Lipi
|
UTSW |
16 |
75,352,757 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5503:Lipi
|
UTSW |
16 |
75,370,864 (GRCm39) |
missense |
probably benign |
0.11 |
R5773:Lipi
|
UTSW |
16 |
75,370,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Lipi
|
UTSW |
16 |
75,370,798 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6312:Lipi
|
UTSW |
16 |
75,370,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R6559:Lipi
|
UTSW |
16 |
75,337,982 (GRCm39) |
missense |
probably benign |
0.31 |
R7587:Lipi
|
UTSW |
16 |
75,347,103 (GRCm39) |
missense |
probably benign |
0.00 |
R7639:Lipi
|
UTSW |
16 |
75,357,743 (GRCm39) |
missense |
probably benign |
0.03 |
R8079:Lipi
|
UTSW |
16 |
75,362,418 (GRCm39) |
critical splice donor site |
probably null |
|
R8256:Lipi
|
UTSW |
16 |
75,370,950 (GRCm39) |
missense |
probably benign |
0.00 |
R8475:Lipi
|
UTSW |
16 |
75,370,862 (GRCm39) |
missense |
probably benign |
0.00 |
R8855:Lipi
|
UTSW |
16 |
75,355,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R8888:Lipi
|
UTSW |
16 |
75,352,710 (GRCm39) |
missense |
probably benign |
0.05 |
R8895:Lipi
|
UTSW |
16 |
75,352,710 (GRCm39) |
missense |
probably benign |
0.05 |
R9112:Lipi
|
UTSW |
16 |
75,359,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R9182:Lipi
|
UTSW |
16 |
75,357,673 (GRCm39) |
nonsense |
probably null |
|
R9198:Lipi
|
UTSW |
16 |
75,362,461 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9601:Lipi
|
UTSW |
16 |
75,352,706 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9658:Lipi
|
UTSW |
16 |
75,357,689 (GRCm39) |
missense |
probably benign |
0.01 |
X0017:Lipi
|
UTSW |
16 |
75,347,243 (GRCm39) |
missense |
probably benign |
0.00 |
X0019:Lipi
|
UTSW |
16 |
75,352,703 (GRCm39) |
missense |
probably benign |
|
Z1177:Lipi
|
UTSW |
16 |
75,347,175 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-05-07 |