Incidental Mutation 'IGL00674:Tnfsf15'
| ID |
14524 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnfsf15
|
| Ensembl Gene |
ENSMUSG00000050395 |
| Gene Name |
tumor necrosis factor (ligand) superfamily, member 15 |
| Synonyms |
TL1A, VEGI, TL1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL00674
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63642837-63663296 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 63652483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062246]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062246
|
| SMART Domains |
Protein: ENSMUSP00000050144
Gene: ENSMUSG00000050395
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
56 |
78 |
N/A |
INTRINSIC |
|
TNF
|
114 |
270 |
1.25e-28 |
SMART |
|
| 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 cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous targeted mutants display decreased clinical severity in experimental autoimmune encephalomyelitis (EAE) and collagen-induced arthritis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
T |
A |
15: 57,971,782 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Cd2ap |
A |
T |
17: 43,119,676 (GRCm39) |
N492K |
probably benign |
Het |
| Fam114a1 |
T |
A |
5: 65,137,347 (GRCm39) |
S97T |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,233,658 (GRCm39) |
M324I |
possibly damaging |
Het |
| Gpx6 |
A |
G |
13: 21,497,978 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,329,949 (GRCm39) |
T108A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,899,773 (GRCm39) |
I26T |
possibly damaging |
Het |
| Mark1 |
C |
T |
1: 184,644,303 (GRCm39) |
G454S |
probably benign |
Het |
| Mrpl20 |
T |
C |
4: 155,893,041 (GRCm39) |
F91L |
probably benign |
Het |
| Nt5c3b |
A |
T |
11: 100,323,735 (GRCm39) |
|
probably benign |
Het |
| Osbpl2 |
T |
C |
2: 179,792,051 (GRCm39) |
Y252H |
possibly damaging |
Het |
| Pard3 |
A |
G |
8: 128,115,159 (GRCm39) |
N626D |
probably damaging |
Het |
| Pbrm1 |
C |
T |
14: 30,840,733 (GRCm39) |
P1612S |
probably damaging |
Het |
| Prl3d3 |
T |
C |
13: 27,343,114 (GRCm39) |
|
probably null |
Het |
| Sall4 |
T |
C |
2: 168,597,700 (GRCm39) |
D380G |
probably damaging |
Het |
| Sema3b |
A |
C |
9: 107,481,240 (GRCm39) |
|
probably null |
Het |
| Spred1 |
C |
T |
2: 117,008,339 (GRCm39) |
P415L |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,883,844 (GRCm39) |
D1958V |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,229,876 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tnfsf15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Tnfsf15
|
APN |
4 |
63,652,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03189:Tnfsf15
|
APN |
4 |
63,648,289 (GRCm39) |
splice site |
probably benign |
|
|
R0158:Tnfsf15
|
UTSW |
4 |
63,648,229 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1824:Tnfsf15
|
UTSW |
4 |
63,651,588 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3122:Tnfsf15
|
UTSW |
4 |
63,652,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4595:Tnfsf15
|
UTSW |
4 |
63,648,180 (GRCm39) |
nonsense |
probably null |
|
|
R5025:Tnfsf15
|
UTSW |
4 |
63,648,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6123:Tnfsf15
|
UTSW |
4 |
63,663,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6376:Tnfsf15
|
UTSW |
4 |
63,663,267 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7104:Tnfsf15
|
UTSW |
4 |
63,647,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Tnfsf15
|
UTSW |
4 |
63,647,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Tnfsf15
|
UTSW |
4 |
63,663,305 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Posted On |
2012-12-06 |
Incidental Mutation