Incidental Mutation 'P0045:Tnfsf8'
ID7788
Institutional Source Beutler Lab
Gene Symbol Tnfsf8
Ensembl Gene ENSMUSG00000028362
Gene Nametumor necrosis factor (ligand) superfamily, member 8
SynonymsCD153, CD30LG, Cd30L
MMRRC Submission 038292-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #P0045 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location63831308-63861347 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 63851167 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030047]
Predicted Effect probably benign
Transcript: ENSMUST00000030047
SMART Domains Protein: ENSMUSP00000030047
Gene: ENSMUSG00000028362

DomainStartEndE-ValueType
low complexity region 29 43 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
TNF 103 235 2.64e-27 SMART
Coding Region Coverage
  • 1x: 79.8%
  • 3x: 69.7%
  • 10x: 39.8%
  • 20x: 17.7%
Validation Efficiency 80% (82/102)
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 TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice diplay decreased susceptibility to graft versus host disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 T A 11: 83,368,026 N736K probably damaging Het
Chsy3 C A 18: 59,409,006 Y405* probably null Het
Col12a1 A G 9: 79,647,611 S2062P probably damaging Het
Ddx42 T A 11: 106,231,272 D204E probably damaging Het
Dnah11 A G 12: 118,030,327 V2328A probably benign Het
Efcab6 T C 15: 83,918,199 K876E probably damaging Het
Immt T G 6: 71,868,617 I404M possibly damaging Het
Kcp A G 6: 29,498,348 V403A probably damaging Het
Litaf C T 16: 10,963,365 R90H probably benign Het
Med12l T A 3: 59,091,535 S639T probably damaging Het
Pcm1 T A 8: 41,288,097 M1091K probably damaging Het
Pramel1 C T 4: 143,398,522 R339* probably null Het
Prss32 A G 17: 23,859,320 S327G probably benign Het
Tpm3 T C 3: 90,091,093 probably null Het
Ubac2 T C 14: 121,973,596 probably benign Het
Yeats2 A G 16: 20,156,945 E117G possibly damaging Het
Other mutations in Tnfsf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Tnfsf8 APN 4 63834510 splice site probably benign
R0322:Tnfsf8 UTSW 4 63834166 missense probably damaging 0.96
R1167:Tnfsf8 UTSW 4 63837086 missense possibly damaging 0.55
R3821:Tnfsf8 UTSW 4 63860890 missense probably benign 0.17
R3893:Tnfsf8 UTSW 4 63860959 missense possibly damaging 0.86
R4154:Tnfsf8 UTSW 4 63834358 missense probably benign 0.00
R4380:Tnfsf8 UTSW 4 63861027 nonsense probably null
R4597:Tnfsf8 UTSW 4 63837100 missense probably damaging 1.00
R7502:Tnfsf8 UTSW 4 63851161 missense probably damaging 1.00
R7740:Tnfsf8 UTSW 4 63834446 missense possibly damaging 0.70
R8062:Tnfsf8 UTSW 4 63861195 start gained probably benign
R8126:Tnfsf8 UTSW 4 63834186 missense possibly damaging 0.94
R8301:Tnfsf8 UTSW 4 63860878 missense probably benign 0.31
R8335:Tnfsf8 UTSW 4 63834115 missense probably damaging 0.98
Posted On2012-10-29