Incidental Mutation 'R8301:Tnfsf8'
ID 639245
Institutional Source Beutler Lab
Gene Symbol Tnfsf8
Ensembl Gene ENSMUSG00000028362
Gene Name tumor necrosis factor (ligand) superfamily, member 8
Synonyms CD153, CD30LG, Cd30L
MMRRC Submission 067789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8301 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 63831308-63861347 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63860878 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 61 (I61N)
Ref Sequence ENSEMBL: ENSMUSP00000030047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030047]
AlphaFold P32972
Predicted Effect probably benign
Transcript: ENSMUST00000030047
AA Change: I61N

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030047
Gene: ENSMUSG00000028362
AA Change: I61N

low complexity region 29 43 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
TNF 103 235 2.64e-27 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 87,972,505 (GRCm38) I374F probably benign Het
Ak9 G A 10: 41,424,716 (GRCm38) V1108I Het
Aldh16a1 C T 7: 45,141,982 (GRCm38) A790T possibly damaging Het
Anks1 A T 17: 28,059,580 (GRCm38) probably benign Het
Antxr2 T G 5: 97,977,679 (GRCm38) T240P probably benign Het
Arfgef1 A T 1: 10,179,833 (GRCm38) M945K probably damaging Het
Arhgef17 T C 7: 100,879,659 (GRCm38) T1591A probably benign Het
Aurka A G 2: 172,356,930 (GRCm38) S374P probably damaging Het
Bccip T C 7: 133,719,204 (GRCm38) S236P probably benign Het
Cacna1s T A 1: 136,073,441 (GRCm38) probably benign Het
Calm1 A G 12: 100,205,685 (GRCm38) E132G probably benign Het
Casz1 A G 4: 148,946,043 (GRCm38) D1173G probably damaging Het
Cdh17 A G 4: 11,795,659 (GRCm38) D413G probably damaging Het
Cfap57 A G 4: 118,593,074 (GRCm38) I617T possibly damaging Het
Creb5 A G 6: 53,681,033 (GRCm38) D116G possibly damaging Het
Csnka2ip A C 16: 64,478,991 (GRCm38) S337A unknown Het
Ddx60 A G 8: 62,000,597 (GRCm38) E1250G probably benign Het
Dlgap2 T A 8: 14,823,577 (GRCm38) S727T probably benign Het
Dpy19l1 T C 9: 24,485,111 (GRCm38) probably benign Het
Ebf2 A G 14: 67,238,982 (GRCm38) T134A possibly damaging Het
Echdc2 A T 4: 108,172,909 (GRCm38) M136L probably benign Het
Enpp2 A G 15: 54,851,407 (GRCm38) F598S probably benign Het
Extl3 A C 14: 65,076,284 (GRCm38) L483R probably damaging Het
Gcat T C 15: 79,035,889 (GRCm38) V227A possibly damaging Het
Hsf2 A G 10: 57,505,346 (GRCm38) D344G probably damaging Het
Ighm C T 12: 113,421,545 (GRCm38) G265D Het
Igsf9b T G 9: 27,334,739 (GRCm38) probably benign Het
Ints6 A G 14: 62,702,453 (GRCm38) V596A probably benign Het
Ints8 T C 4: 11,246,120 (GRCm38) E182G probably damaging Het
Iqgap2 A G 13: 95,682,151 (GRCm38) probably null Het
Kalrn G T 16: 34,357,100 (GRCm38) Q250K probably benign Het
Lrrc1 T A 9: 77,544,488 (GRCm38) N46Y probably damaging Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Naa50 A G 16: 44,157,131 (GRCm38) N74S probably benign Het
Neb T C 2: 52,288,835 (GRCm38) N1303S probably benign Het
Nfs1 A T 2: 156,134,493 (GRCm38) C160* probably null Het
Olfr472 A G 7: 107,903,626 (GRCm38) K303R probably benign Het
Olfr591 T G 7: 103,173,073 (GRCm38) K188T probably damaging Het
Olfr740 T A 14: 50,453,564 (GRCm38) S171T probably benign Het
Olfr809 T C 10: 129,776,840 (GRCm38) S309P probably benign Het
Orm2 T C 4: 63,363,026 (GRCm38) F67S possibly damaging Het
Pex5 A G 6: 124,405,183 (GRCm38) S180P probably benign Het
Phf14 G C 6: 11,992,062 (GRCm38) G746R probably damaging Het
Pkm T A 9: 59,668,631 (GRCm38) V110E probably damaging Het
Plekha6 T G 1: 133,264,687 (GRCm38) N78K probably damaging Het
Plxna2 G A 1: 194,790,175 (GRCm38) V1076I probably benign Het
Polq C A 16: 37,061,819 (GRCm38) D1448E probably damaging Het
Pot1b T C 17: 55,687,895 (GRCm38) T256A probably benign Het
Prkch C T 12: 73,702,764 (GRCm38) T377I possibly damaging Het
Prl3c1 A C 13: 27,199,185 (GRCm38) probably benign Het
Prl7b1 A C 13: 27,602,772 (GRCm38) V158G possibly damaging Het
Prss22 T C 17: 23,993,981 (GRCm38) S261G probably damaging Het
Psd T C 19: 46,321,102 (GRCm38) probably benign Het
Psg18 A T 7: 18,353,377 (GRCm38) Y119N probably damaging Het
Rbm6 T G 9: 107,852,794 (GRCm38) R218S probably damaging Het
Rnf213 T A 11: 119,434,742 (GRCm38) S1491T Het
Rsf1 T C 7: 97,661,925 (GRCm38) S621P Het
Runx1 C A 16: 92,605,656 (GRCm38) *466L probably null Het
Samd4 A G 14: 47,016,678 (GRCm38) I200V probably benign Het
Sdsl C T 5: 120,459,519 (GRCm38) C241Y probably benign Het
Selenon T C 4: 134,551,414 (GRCm38) probably benign Het
Setx C T 2: 29,145,690 (GRCm38) P729L possibly damaging Het
Sf1 C T 19: 6,368,366 (GRCm38) Q55* probably null Het
Slc12a5 A T 2: 164,993,691 (GRCm38) N833I probably damaging Het
Slc1a4 T C 11: 20,332,286 (GRCm38) R63G probably damaging Het
Tmeff2 G T 1: 51,181,837 (GRCm38) A324S probably benign Het
Tmem217 A G 17: 29,526,492 (GRCm38) I88T possibly damaging Het
Tpbgl G T 7: 99,625,567 (GRCm38) A361E probably damaging Het
Trhde T A 10: 114,487,006 (GRCm38) E667V probably benign Het
Unc13b A G 4: 43,263,568 (GRCm38) T1598A probably benign Het
Vmn2r73 A T 7: 85,858,302 (GRCm38) C601S probably benign Het
Zfp873 C A 10: 82,060,879 (GRCm38) H481Q probably damaging Het
Other mutations in Tnfsf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Tnfsf8 APN 4 63,834,510 (GRCm38) splice site probably benign
G1Funyon:Tnfsf8 UTSW 4 63,860,878 (GRCm38) missense probably benign 0.31
P0045:Tnfsf8 UTSW 4 63,851,167 (GRCm38) splice site probably benign
R0322:Tnfsf8 UTSW 4 63,834,166 (GRCm38) missense probably damaging 0.96
R1167:Tnfsf8 UTSW 4 63,837,086 (GRCm38) missense possibly damaging 0.55
R3821:Tnfsf8 UTSW 4 63,860,890 (GRCm38) missense probably benign 0.17
R3893:Tnfsf8 UTSW 4 63,860,959 (GRCm38) missense possibly damaging 0.86
R4154:Tnfsf8 UTSW 4 63,834,358 (GRCm38) missense probably benign 0.00
R4380:Tnfsf8 UTSW 4 63,861,027 (GRCm38) nonsense probably null
R4597:Tnfsf8 UTSW 4 63,837,100 (GRCm38) missense probably damaging 1.00
R7502:Tnfsf8 UTSW 4 63,851,161 (GRCm38) missense probably damaging 1.00
R7740:Tnfsf8 UTSW 4 63,834,446 (GRCm38) missense possibly damaging 0.70
R8062:Tnfsf8 UTSW 4 63,861,195 (GRCm38) start gained probably benign
R8126:Tnfsf8 UTSW 4 63,834,186 (GRCm38) missense possibly damaging 0.94
R8335:Tnfsf8 UTSW 4 63,834,115 (GRCm38) missense probably damaging 0.98
R9206:Tnfsf8 UTSW 4 63,834,213 (GRCm38) missense probably benign 0.25
R9208:Tnfsf8 UTSW 4 63,834,213 (GRCm38) missense probably benign 0.25
R9251:Tnfsf8 UTSW 4 63,860,980 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-07-28