Incidental Mutation 'IGL02177:Tnfsf18'
ID 283162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfsf18
Ensembl Gene ENSMUSG00000066755
Gene Name tumor necrosis factor (ligand) superfamily, member 18
Synonyms GITR ligand, Gitrl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02177
Quality Score
Status
Chromosome 1
Chromosomal Location 161322224-161332859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 161331354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 168 (D168V)
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: D168V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083251
Gene: ENSMUSG00000066755
AA Change: D168V

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
Pfam:TNF 61 166 6.7e-7 PFAM
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T G 19: 53,205,323 (GRCm39) Y24* probably null Het
Catsperb A G 12: 101,507,721 (GRCm39) Y496C probably damaging Het
Ccdc183 C T 2: 25,502,095 (GRCm39) E260K probably benign Het
Ccdc81 A C 7: 89,524,988 (GRCm39) M531R possibly damaging Het
Cyp3a16 T A 5: 145,386,964 (GRCm39) N342I probably benign Het
Defb43 T C 14: 63,249,266 (GRCm39) V3A probably benign Het
Dpyd T A 3: 118,858,559 (GRCm39) I591N possibly damaging Het
Dpysl5 T G 5: 30,902,622 (GRCm39) V18G probably damaging Het
Erc2 A T 14: 27,620,580 (GRCm39) M69L probably benign Het
Fam184b G T 5: 45,690,157 (GRCm39) Y817* probably null Het
Fyb1 G T 15: 6,688,047 (GRCm39) probably null Het
Gpr33 G T 12: 52,070,863 (GRCm39) Q59K probably benign Het
Heatr3 T G 8: 88,883,351 (GRCm39) F278V probably benign Het
Hectd1 A T 12: 51,819,103 (GRCm39) D1292E probably damaging Het
Herc1 A T 9: 66,341,793 (GRCm39) M1861L probably benign Het
Hspg2 T A 4: 137,242,627 (GRCm39) L614Q probably damaging Het
Itpr3 A G 17: 27,318,588 (GRCm39) R915G possibly damaging Het
Jhy T C 9: 40,809,553 (GRCm39) D646G probably damaging Het
Lrig1 T A 6: 94,640,977 (GRCm39) N76I possibly damaging Het
Macc1 A G 12: 119,429,292 (GRCm39) D814G probably damaging Het
Mapk8ip1 T C 2: 92,217,092 (GRCm39) D401G probably damaging Het
Nedd4 T A 9: 72,654,439 (GRCm39) S865T probably damaging Het
Or9s27 G A 1: 92,516,479 (GRCm39) M142I possibly damaging Het
Pi4ka A T 16: 17,136,146 (GRCm39) D937E probably benign Het
Prkcd T A 14: 30,327,844 (GRCm39) I81F probably damaging Het
Ranbp9 A T 13: 43,573,193 (GRCm39) C280S probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scn1b T C 7: 30,816,655 (GRCm39) *219W probably null Het
Slain2 T C 5: 73,072,008 (GRCm39) V14A probably benign Het
Soat1 A T 1: 156,268,073 (GRCm39) probably benign Het
Tbc1d4 T A 14: 101,692,375 (GRCm39) M1030L possibly damaging Het
Tenm4 T C 7: 96,544,869 (GRCm39) V2295A probably benign Het
Tmem135 A G 7: 88,987,661 (GRCm39) Y46H probably damaging Het
Trdn T C 10: 33,015,169 (GRCm39) V41A probably damaging Het
Trpc5 G T X: 143,264,234 (GRCm39) L208I probably damaging Het
Vmn1r50 T C 6: 90,085,139 (GRCm39) Y295H probably benign Het
Vmn2r18 T G 5: 151,510,274 (GRCm39) H33P possibly damaging Het
Vmn2r84 T C 10: 130,227,881 (GRCm39) I118M probably benign Het
Other mutations in Tnfsf18
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0854:Tnfsf18 UTSW 1 161,331,237 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16