Incidental Mutation 'R0854:Tnfsf18'
| ID |
82646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfsf18
|
| Ensembl Gene |
ENSMUSG00000066755 |
| Gene Name |
tumor necrosis factor (ligand) superfamily, member 18 |
| Synonyms |
GITR ligand, Gitrl |
| MMRRC Submission |
039033-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
161322224-161332859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 161331237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 129
(I129N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086084]
|
| AlphaFold |
Q7TS55 |
| PDB Structure |
crystal structure of mouse GITR ligand dimer [X-RAY DIFFRACTION]
Crystal Structure of mouse GITRL [X-RAY DIFFRACTION]
Crystal Structure of mouse GITRL at 2.5 A. [X-RAY DIFFRACTION]
1.8 A crystal structure of murine GITR ligand dimer expressed in Drosophila melanogaster S2 cells [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086084
AA Change: I129N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083251
Gene: ENSMUSG00000066755
AA Change: I129N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
|
Pfam:TNF
|
61 |
166 |
6.7e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
| 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 cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
A |
11: 69,055,302 (GRCm39) |
|
probably null |
Het |
| Brox |
T |
G |
1: 183,069,322 (GRCm39) |
R128S |
possibly damaging |
Het |
| Cfap57 |
G |
A |
4: 118,419,069 (GRCm39) |
T1153I |
probably benign |
Het |
| Ddt |
C |
T |
10: 75,607,329 (GRCm39) |
R54H |
probably benign |
Het |
| Epm2aip1 |
T |
A |
9: 111,101,567 (GRCm39) |
L180* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,431,037 (GRCm39) |
I231V |
probably benign |
Het |
| Gng7 |
A |
G |
10: 80,787,507 (GRCm39) |
V52A |
possibly damaging |
Het |
| Hbb-bh2 |
T |
C |
7: 103,489,272 (GRCm39) |
H93R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,599,329 (GRCm39) |
H3292L |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,166,426 (GRCm39) |
E188G |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,149,973 (GRCm39) |
L1844P |
possibly damaging |
Het |
| Ncan |
G |
T |
8: 70,565,202 (GRCm39) |
R242S |
probably damaging |
Het |
| Nceh1 |
T |
A |
3: 27,295,468 (GRCm39) |
L243Q |
probably damaging |
Het |
| Notch4 |
T |
A |
17: 34,787,546 (GRCm39) |
S369T |
probably damaging |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Pask |
T |
A |
1: 93,255,122 (GRCm39) |
K316M |
probably damaging |
Het |
| Pask |
T |
A |
1: 93,255,156 (GRCm39) |
T305S |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,255,134 (GRCm39) |
K312R |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,342 (GRCm39) |
V284A |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,739,408 (GRCm39) |
Y40C |
probably damaging |
Het |
| Sema6d |
C |
T |
2: 124,507,222 (GRCm39) |
T1010M |
probably damaging |
Het |
| Thsd1 |
G |
A |
8: 22,748,587 (GRCm39) |
G433E |
probably damaging |
Het |
| Tsc22d1 |
C |
T |
14: 76,655,641 (GRCm39) |
Q625* |
probably null |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r58 |
T |
G |
7: 41,486,562 (GRCm39) |
N778H |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,156,916 (GRCm39) |
V7I |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,577 (GRCm39) |
V102A |
possibly damaging |
Het |
|
| Other mutations in Tnfsf18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02177:Tnfsf18
|
APN |
1 |
161,331,354 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02420:Tnfsf18
|
APN |
1 |
161,331,158 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02806:Tnfsf18
|
APN |
1 |
161,331,348 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0165:Tnfsf18
|
UTSW |
1 |
161,322,300 (GRCm39) |
missense |
probably benign |
|
|
R0720:Tnfsf18
|
UTSW |
1 |
161,331,156 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4672:Tnfsf18
|
UTSW |
1 |
161,331,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5613:Tnfsf18
|
UTSW |
1 |
161,331,297 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6358:Tnfsf18
|
UTSW |
1 |
161,331,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6618:Tnfsf18
|
UTSW |
1 |
161,322,349 (GRCm39) |
nonsense |
probably null |
|
|
R8749:Tnfsf18
|
UTSW |
1 |
161,331,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCAGGTAAAGAAGCCACCTGAAG -3'
(R):5'- GTGTGCATTGCCATCAATCATCCC -3'
Sequencing Primer
(F):5'- AAACCTCACTGTGTGAATACGAC -3'
(R):5'- ACCCACCAGCATCTCGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation