Incidental Mutation 'R4680:Lipi'
| ID |
350004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipi
|
| Ensembl Gene |
ENSMUSG00000032948 |
| Gene Name |
lipase, member I |
| Synonyms |
D930038D03Rik, lpd1 |
| MMRRC Submission |
041933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4680 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
75337402-75382949 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 75362417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062721]
|
| AlphaFold |
F6YQT7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186809
|
| Meta Mutation Damage Score |
0.9469 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
96% (48/50) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,315,390 (GRCm39) |
L96Q |
probably damaging |
Het |
| 4931414P19Rik |
T |
C |
14: 54,822,533 (GRCm39) |
Y368C |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,924,215 (GRCm39) |
N8S |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,408,409 (GRCm39) |
V2432A |
probably benign |
Het |
| Atf2 |
A |
T |
2: 73,659,025 (GRCm39) |
|
probably null |
Het |
| B3gnt2 |
A |
G |
11: 22,787,105 (GRCm39) |
S28P |
probably damaging |
Het |
| Chil5 |
A |
G |
3: 105,942,191 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
T |
15: 73,405,225 (GRCm39) |
H326L |
possibly damaging |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,118,475 (GRCm39) |
V461A |
possibly damaging |
Het |
| Fhad1 |
G |
A |
4: 141,738,858 (GRCm39) |
Q31* |
probably null |
Het |
| Gpr26 |
A |
G |
7: 131,576,082 (GRCm39) |
T249A |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,386,735 (GRCm39) |
M958L |
probably damaging |
Het |
| Kat2b-ps |
A |
G |
5: 93,539,299 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm2b |
A |
T |
5: 123,072,849 (GRCm39) |
V343E |
probably damaging |
Het |
| Ltb4r1 |
T |
C |
14: 56,004,925 (GRCm39) |
F76S |
probably damaging |
Het |
| Msantd2 |
A |
G |
9: 37,434,387 (GRCm39) |
Y209C |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,647,437 (GRCm39) |
C401Y |
probably damaging |
Het |
| Obox1 |
A |
T |
7: 15,290,089 (GRCm39) |
N144I |
probably damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,813 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,665 (GRCm39) |
I46V |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,517 (GRCm39) |
I105F |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,064,775 (GRCm39) |
E1630G |
unknown |
Het |
| Ppp2r5e |
C |
T |
12: 75,516,533 (GRCm39) |
R218Q |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,589,894 (GRCm39) |
T2586A |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,290,840 (GRCm39) |
N633S |
probably benign |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,452 (GRCm39) |
N284S |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Ropn1 |
A |
G |
16: 34,497,675 (GRCm39) |
Q189R |
possibly damaging |
Het |
| Rwdd2b |
A |
G |
16: 87,233,950 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,610,119 (GRCm39) |
S4236T |
probably benign |
Het |
| Sigmar1 |
A |
G |
4: 41,741,251 (GRCm39) |
M1T |
probably null |
Het |
| Sncg |
T |
A |
14: 34,095,268 (GRCm39) |
N79I |
probably benign |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,763,021 (GRCm39) |
G3213S |
probably damaging |
Het |
| Uqcrc1 |
G |
A |
9: 108,776,929 (GRCm39) |
R77H |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,835,080 (GRCm39) |
L2756R |
possibly damaging |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- CTAAATAGCAGGATTGAACATGCC -3'
(R):5'- TGAATGCCTTTGAAGGGTGC -3'
Sequencing Primer
(F):5'- TGCCAAAGAAGTATTGTAAAGTCAG -3'
(R):5'- CCTTTGAAGGGTGCTGATAAATATTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation