Incidental Mutation 'R6618:Tnfsf18'
ID 524189
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 044741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6618 (G1)
Quality Score 208.009
Status Validated
Chromosome 1
Chromosomal Location 161322224-161332859 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 161322349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 23 (L23*)
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 null
Transcript: ENSMUST00000086084
AA Change: L23*
SMART Domains Protein: ENSMUSP00000083251
Gene: ENSMUSG00000066755
AA Change: L23*

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
Pfam:TNF 61 166 6.7e-7 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (37/37)
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
Atp1b2 T C 11: 69,494,289 (GRCm39) D68G probably damaging Het
Barx2 G A 9: 31,758,168 (GRCm39) L257F probably benign Het
Bbx C G 16: 50,086,626 (GRCm39) W90S probably damaging Het
Bmp1 T A 14: 70,728,808 (GRCm39) D588V probably damaging Het
Caskin2 C T 11: 115,690,855 (GRCm39) M1188I possibly damaging Het
Ccdc180 T A 4: 45,950,708 (GRCm39) I1651N probably damaging Het
Cimip2a C A 2: 25,110,635 (GRCm39) L148M probably benign Het
Cr2 T C 1: 194,839,687 (GRCm39) D580G probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Fam204a T C 19: 60,209,069 (GRCm39) probably null Het
Fam83h T C 15: 75,875,360 (GRCm39) D659G probably damaging Het
Garin3 A G 11: 46,298,126 (GRCm39) T477A probably damaging Het
Hells G T 19: 38,945,528 (GRCm39) R589L probably benign Het
Helz A G 11: 107,489,976 (GRCm39) T144A probably benign Het
Il1r1 T A 1: 40,339,971 (GRCm39) V258D probably damaging Het
Isoc2a A T 7: 4,898,325 (GRCm39) I183F probably benign Het
Kat2a G T 11: 100,603,196 (GRCm39) probably benign Het
Klf9 A G 19: 23,142,235 (GRCm39) M232V probably benign Het
Lars1 G T 18: 42,377,973 (GRCm39) S147R possibly damaging Het
Mkrn3 A G 7: 62,068,781 (GRCm39) F337L probably benign Het
Mrc2 A T 11: 105,240,708 (GRCm39) N1466I probably damaging Het
Myo5c G A 9: 75,182,919 (GRCm39) probably null Het
Pigs T C 11: 78,232,056 (GRCm39) L396P probably damaging Het
Prkcb G A 7: 122,226,886 (GRCm39) R624Q probably benign Het
R3hdm1 T C 1: 128,121,302 (GRCm39) S269P probably benign Het
Racgap1 A T 15: 99,521,875 (GRCm39) I505K probably damaging Het
Ralgds T A 2: 28,440,523 (GRCm39) D777E probably benign Het
Rdh14 A G 12: 10,445,123 (GRCm39) I325V probably benign Het
Rpn2 T A 2: 157,163,781 (GRCm39) H624Q probably benign Het
Scarb1 C T 5: 125,381,394 (GRCm39) S50N probably damaging Het
Shmt1 T C 11: 60,683,772 (GRCm39) probably null Het
Slc49a3 G T 5: 108,590,964 (GRCm39) T400K probably benign Het
Smim24 A G 10: 81,229,966 (GRCm39) N27S possibly damaging Het
Snx13 A G 12: 35,162,444 (GRCm39) D550G probably damaging Het
Trpc3 T A 3: 36,694,844 (GRCm39) K703N possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Zfy2 A G Y: 2,121,477 (GRCm39) S139P probably benign Homo
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
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
R8749:Tnfsf18 UTSW 1 161,331,047 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GCGAGTGCTTAGCAGTGTTC -3'
(R):5'- GAAGAGCCATGTCATTACAAGG -3'

Sequencing Primer
(F):5'- CGAGTGCTTAGCAGTGTTCCAAAG -3'
(R):5'- CCATGTCATTACAAGGCTTAAATTGC -3'
Posted On 2018-06-22