Incidental Mutation 'R4001:Lipi'
| ID |
475171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipi
|
| Ensembl Gene |
ENSMUSG00000032948 |
| Gene Name |
lipase, member I |
| Synonyms |
D930038D03Rik, lpd1 |
| MMRRC Submission |
040844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4001 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
75337402-75382949 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 75370759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 153
(R153*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062721]
|
| AlphaFold |
F6YQT7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062721
AA Change: R153*
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (28/28) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
C |
A |
8: 111,768,234 (GRCm39) |
H202N |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,922,428 (GRCm39) |
T94S |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
| Clip4 |
A |
T |
17: 72,106,071 (GRCm39) |
I85L |
probably damaging |
Het |
| Cntnap5c |
G |
A |
17: 58,714,735 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
A |
G |
2: 125,319,415 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,003,476 (GRCm39) |
R25G |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,272,187 (GRCm39) |
N1023S |
probably damaging |
Het |
| Lpcat4 |
A |
T |
2: 112,070,296 (GRCm39) |
Q3L |
probably benign |
Het |
| Naa16 |
C |
A |
14: 79,580,561 (GRCm39) |
|
probably null |
Het |
| Nalcn |
G |
T |
14: 123,834,006 (GRCm39) |
N56K |
probably damaging |
Het |
| Obscn |
C |
G |
11: 59,025,395 (GRCm39) |
A412P |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,812 (GRCm39) |
L71P |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,967,104 (GRCm39) |
L415Q |
probably damaging |
Het |
| Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
| Rbms2 |
C |
T |
10: 127,987,169 (GRCm39) |
S13N |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,693,330 (GRCm39) |
L617P |
probably damaging |
Het |
| Sap18b |
T |
C |
8: 96,552,068 (GRCm39) |
V26A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,847,318 (GRCm39) |
L282P |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,131,339 (GRCm39) |
M826T |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,269,271 (GRCm39) |
S820P |
probably benign |
Het |
| Tmprss3 |
T |
C |
17: 31,405,533 (GRCm39) |
N353S |
probably damaging |
Het |
| Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,035,566 (GRCm39) |
S1562P |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,778,366 (GRCm39) |
V916I |
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 |
|
|
IGL01863:Lipi
|
APN |
16 |
75,347,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation