Incidental Mutation 'R0720:Tnfsf18'
ID 63506
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 038902-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0720 (G1)
Quality Score 140
Status Validated
Chromosome 1
Chromosomal Location 161322224-161332859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 161331156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 102 (Y102C)
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: Y102C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083251
Gene: ENSMUSG00000066755
AA Change: Y102C

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
Pfam:TNF 61 166 6.7e-7 PFAM
Meta Mutation Damage Score 0.3870 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 98% (44/45)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A G 17: 43,024,063 (GRCm39) I136T probably damaging Het
Bbs7 T C 3: 36,646,572 (GRCm39) D416G probably damaging Het
Commd4 G T 9: 57,062,718 (GRCm39) D179E probably benign Het
Cyp3a57 T C 5: 145,327,213 (GRCm39) probably benign Het
Dnah5 A G 15: 28,314,007 (GRCm39) N1941S probably null Het
Dynap T C 18: 70,374,055 (GRCm39) D157G unknown Het
Entrep2 A G 7: 64,469,658 (GRCm39) probably benign Het
Eri3 T C 4: 117,410,242 (GRCm39) probably null Het
Fbxo25 A G 8: 13,985,222 (GRCm39) Y305C probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fxr2 A G 11: 69,530,241 (GRCm39) D36G probably benign Het
Gas2l3 T C 10: 89,249,805 (GRCm39) T438A probably benign Het
Gcm1 A T 9: 77,971,923 (GRCm39) Y288F possibly damaging Het
Gm3164 C A 14: 4,442,719 (GRCm38) S218R probably benign Het
Hipk2 C T 6: 38,675,491 (GRCm39) R1029H probably damaging Het
Htra3 T C 5: 35,811,453 (GRCm39) I392M probably damaging Het
Kansl1l T C 1: 66,840,515 (GRCm39) M262V possibly damaging Het
Lrrc47 T C 4: 154,104,344 (GRCm39) probably null Het
Macf1 A T 4: 123,326,718 (GRCm39) N4926K probably damaging Het
Mllt10 T C 2: 18,201,406 (GRCm39) S631P probably benign Het
Nlrp14 A G 7: 106,781,220 (GRCm39) H139R probably benign Het
Or1e34 T A 11: 73,778,688 (GRCm39) N170I probably benign Het
Or5w20 A T 2: 87,727,013 (GRCm39) T157S probably benign Het
Ptger2 T C 14: 45,226,590 (GRCm39) C57R probably benign Het
Rhot1 T C 11: 80,114,769 (GRCm39) V59A probably damaging Het
Rmdn2 G A 17: 79,975,458 (GRCm39) probably null Het
Rxfp2 G T 5: 149,967,584 (GRCm39) K148N probably benign Het
Sec23a G A 12: 59,018,057 (GRCm39) T623M probably damaging Het
Smcr8 T C 11: 60,669,269 (GRCm39) L139P probably damaging Het
Spag6l A T 16: 16,584,960 (GRCm39) probably benign Het
Taar1 T C 10: 23,796,971 (GRCm39) I223T probably damaging Het
Tdo2 G T 3: 81,870,065 (GRCm39) A269E probably damaging Het
Tns1 A G 1: 73,964,740 (GRCm39) L1297P probably benign Het
Txndc8 C T 4: 57,984,245 (GRCm39) probably benign Het
Ubr5 T C 15: 37,973,235 (GRCm39) N2622S probably damaging Het
Vmn2r99 T A 17: 19,599,305 (GRCm39) F330I probably benign Het
Zdhhc2 T A 8: 40,925,948 (GRCm39) probably null 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
IGL02806:Tnfsf18 APN 1 161,331,348 (GRCm39) missense possibly damaging 0.95
R0165:Tnfsf18 UTSW 1 161,322,300 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- GTCCAGGTAAAGAAGCCACCTGAAG -3'
(R):5'- CTCACAAACTGTGTGCATTGCCATC -3'

Sequencing Primer
(F):5'- CACCTGAAGGCAGTAAAACATATAG -3'
(R):5'- GTAGATCAGGCATTAAGATGATCCCC -3'
Posted On 2013-07-30