Incidental Mutation 'IGL02806:Tnfsf18'
ID360443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfsf18
Ensembl Gene ENSMUSG00000066755
Gene Nametumor necrosis factor (ligand) superfamily, member 18
SynonymsGITR ligand, Gitrl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02806
Quality Score
Status
Chromosome1
Chromosomal Location161494655-161505290 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 161503779 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 166 (M166R)
Ref Sequence ENSEMBL: ENSMUSP00000083251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086084]
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
4932438A13Rik A G 3: 36,946,494 D1274G possibly damaging Het
Acot4 A G 12: 84,041,963 D195G probably damaging Het
Acsm1 G A 7: 119,636,638 D194N probably benign Het
Akr1b3 T C 6: 34,304,319 Y310C probably damaging Het
Aldh6a1 T C 12: 84,439,640 D168G probably damaging Het
Ankrd29 A C 18: 12,275,738 S166A probably benign Het
Ap1m2 T G 9: 21,305,683 D119A probably damaging Het
Atp1a3 T C 7: 24,981,872 K776R probably damaging Het
Cacna2d3 A C 14: 29,351,950 probably null Het
Ccdc51 T C 9: 109,092,248 M401T probably benign Het
Cchcr1 A G 17: 35,525,256 probably benign Het
Cspg4 T C 9: 56,890,259 S1336P possibly damaging Het
Ddx60 T A 8: 61,956,122 D397E probably benign Het
Duox2 T C 2: 122,284,666 H1110R probably damaging Het
Ephb3 C A 16: 21,222,281 D696E probably benign Het
Ermap T C 4: 119,188,916 K6E possibly damaging Het
Gm3095 A G 14: 3,964,519 D79G possibly damaging Het
Hnrnpab A G 11: 51,605,478 S126P probably benign Het
Hyou1 C A 9: 44,388,883 S823* probably null Het
Klhl31 T A 9: 77,655,774 V607E probably damaging Het
Klrc3 A T 6: 129,639,102 C209S possibly damaging Het
Lhx4 G A 1: 155,702,229 P389L probably benign Het
Lmntd2 T C 7: 141,212,039 T264A probably benign Het
Mkx T C 18: 6,937,025 D302G probably damaging Het
Ms4a4d T C 19: 11,556,246 S164P possibly damaging Het
Myo1e A G 9: 70,362,270 E651G probably benign Het
Myo5b G A 18: 74,617,080 probably null Het
Ncoa3 A G 2: 166,052,432 I298V probably benign Het
Nek1 G A 8: 61,044,086 M389I probably benign Het
Nid1 T A 13: 13,468,312 D278E probably benign Het
Nkx2-9 C T 12: 56,611,920 V170M probably damaging Het
Olfr610 T A 7: 103,506,003 K314N probably benign Het
Oxsr1 T C 9: 119,241,194 D511G possibly damaging Het
Pramef17 T A 4: 143,992,931 probably null Het
Rbm44 T C 1: 91,153,077 L329S possibly damaging Het
Setd7 A T 3: 51,550,267 N46K probably damaging Het
Snx10 T A 6: 51,588,349 F149I probably damaging Het
Sult2a3 T A 7: 14,122,932 E21V probably damaging Het
Tas2r135 T C 6: 42,406,448 F307S probably benign Het
Tmem131l T C 3: 83,928,816 probably benign Het
Toe1 C T 4: 116,806,330 V88M possibly damaging Het
Ttk T A 9: 83,862,487 C577* probably null Het
Ush2a T A 1: 188,810,357 Y3373* probably null Het
Vwa8 A G 14: 79,157,088 D1543G probably benign Het
Zfhx4 A T 3: 5,390,408 H1154L probably benign Het
Other mutations in Tnfsf18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02177:Tnfsf18 APN 1 161503785 missense probably damaging 0.97
IGL02420:Tnfsf18 APN 1 161503589 missense probably benign 0.05
R0165:Tnfsf18 UTSW 1 161494731 missense probably benign
R0720:Tnfsf18 UTSW 1 161503587 missense possibly damaging 0.96
R0854:Tnfsf18 UTSW 1 161503668 missense probably damaging 0.99
R4672:Tnfsf18 UTSW 1 161503738 missense probably benign 0.01
R5613:Tnfsf18 UTSW 1 161503728 missense possibly damaging 0.69
R6358:Tnfsf18 UTSW 1 161503579 missense probably benign 0.01
R6618:Tnfsf18 UTSW 1 161494780 nonsense probably null
Posted On2015-12-18