Incidental Mutation 'IGL02806:Tnfsf18'
ID 360443
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 # IGL02806
Quality Score
Status
Chromosome 1
Chromosomal Location 161322224-161332859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 161331348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 166 (M166R)
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 possibly damaging
Transcript: ENSMUST00000086084
AA Change: M166R

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083251
Gene: ENSMUSG00000066755
AA Change: M166R

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 A G 12: 84,088,737 (GRCm39) D195G probably damaging Het
Acsm1 G A 7: 119,235,861 (GRCm39) D194N probably benign Het
Akr1b1 T C 6: 34,281,254 (GRCm39) Y310C probably damaging Het
Aldh6a1 T C 12: 84,486,414 (GRCm39) D168G probably damaging Het
Ankrd29 A C 18: 12,408,795 (GRCm39) S166A probably benign Het
Ap1m2 T G 9: 21,216,979 (GRCm39) D119A probably damaging Het
Atp1a3 T C 7: 24,681,297 (GRCm39) K776R probably damaging Het
Bltp1 A G 3: 37,000,643 (GRCm39) D1274G possibly damaging Het
Cacna2d3 A C 14: 29,073,907 (GRCm39) probably null Het
Ccdc51 T C 9: 108,921,316 (GRCm39) M401T probably benign Het
Cchcr1 A G 17: 35,836,153 (GRCm39) probably benign Het
Cspg4 T C 9: 56,797,543 (GRCm39) S1336P possibly damaging Het
Ddx60 T A 8: 62,409,156 (GRCm39) D397E probably benign Het
Duox2 T C 2: 122,115,147 (GRCm39) H1110R probably damaging Het
Ephb3 C A 16: 21,041,031 (GRCm39) D696E probably benign Het
Ermap T C 4: 119,046,113 (GRCm39) K6E possibly damaging Het
Gm3095 A G 14: 15,170,388 (GRCm39) D79G possibly damaging Het
Hnrnpab A G 11: 51,496,305 (GRCm39) S126P probably benign Het
Hyou1 C A 9: 44,300,180 (GRCm39) S823* probably null Het
Klhl31 T A 9: 77,563,056 (GRCm39) V607E probably damaging Het
Klrc3 A T 6: 129,616,065 (GRCm39) C209S possibly damaging Het
Lhx4 G A 1: 155,577,975 (GRCm39) P389L probably benign Het
Lmntd2 T C 7: 140,791,952 (GRCm39) T264A probably benign Het
Mkx T C 18: 6,937,025 (GRCm39) D302G probably damaging Het
Ms4a4d T C 19: 11,533,610 (GRCm39) S164P possibly damaging Het
Myo1e A G 9: 70,269,552 (GRCm39) E651G probably benign Het
Myo5b G A 18: 74,750,151 (GRCm39) probably null Het
Ncoa3 A G 2: 165,894,352 (GRCm39) I298V probably benign Het
Nek1 G A 8: 61,497,120 (GRCm39) M389I probably benign Het
Nid1 T A 13: 13,642,897 (GRCm39) D278E probably benign Het
Nkx2-9 C T 12: 56,658,705 (GRCm39) V170M probably damaging Het
Or51ag1 T A 7: 103,155,210 (GRCm39) K314N probably benign Het
Oxsr1 T C 9: 119,070,260 (GRCm39) D511G possibly damaging Het
Pramel14 T A 4: 143,719,501 (GRCm39) probably null Het
Rbm44 T C 1: 91,080,799 (GRCm39) L329S possibly damaging Het
Setd7 A T 3: 51,457,688 (GRCm39) N46K probably damaging Het
Snx10 T A 6: 51,565,329 (GRCm39) F149I probably damaging Het
Sult2a3 T A 7: 13,856,857 (GRCm39) E21V probably damaging Het
Tas2r135 T C 6: 42,383,382 (GRCm39) F307S probably benign Het
Tmem131l T C 3: 83,836,123 (GRCm39) probably benign Het
Toe1 C T 4: 116,663,527 (GRCm39) V88M possibly damaging Het
Ttk T A 9: 83,744,540 (GRCm39) C577* probably null Het
Ush2a T A 1: 188,542,554 (GRCm39) Y3373* probably null Het
Vwa8 A G 14: 79,394,528 (GRCm39) D1543G probably benign Het
Zfhx4 A T 3: 5,455,468 (GRCm39) H1154L probably benign Het
Other mutations in Tnfsf18
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-12-18