Incidental Mutation 'R4154:Tnfsf8'
ID 315036
Institutional Source Beutler Lab
Gene Symbol Tnfsf8
Ensembl Gene ENSMUSG00000028362
Gene Name tumor necrosis factor (ligand) superfamily, member 8
Synonyms Cd30L, CD153, CD30LG
MMRRC Submission 040998-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4154 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 63749545-63779584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63752595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 157 (S157P)
Ref Sequence ENSEMBL: ENSMUSP00000030047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030047]
AlphaFold P32972
Predicted Effect probably benign
Transcript: ENSMUST00000030047
AA Change: S157P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000030047
Gene: ENSMUSG00000028362
AA Change: S157P

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (51/52)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI593442 A T 9: 52,589,204 (GRCm39) H124Q probably benign Het
Asph C T 4: 9,639,250 (GRCm39) W38* probably null Het
Bicdl2 A G 17: 23,885,066 (GRCm39) probably null Het
Chd8 T C 14: 52,444,668 (GRCm39) probably benign Het
Clcn4 T C 7: 7,297,833 (GRCm39) N67D probably benign Het
Cptp A G 4: 155,951,657 (GRCm39) V12A possibly damaging Het
Crim1 A G 17: 78,545,272 (GRCm39) I145V probably benign Het
Ctsc G A 7: 87,948,755 (GRCm39) M195I probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Fas T G 19: 34,296,228 (GRCm39) I180S possibly damaging Het
Fsip2 A C 2: 82,817,413 (GRCm39) E4382A possibly damaging Het
Galnt5 T G 2: 57,888,505 (GRCm39) L35R probably damaging Het
Gfpt2 G A 11: 49,726,605 (GRCm39) probably null Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gm14496 A T 2: 181,636,872 (GRCm39) H110L probably benign Het
Golm1 A G 13: 59,790,167 (GRCm39) V211A probably benign Het
Gsc2 TGCAGCAGCAGCAGCAG TGCAGCAGCAGCAG 16: 17,732,666 (GRCm39) probably benign Het
Ighv1-72 A T 12: 115,722,017 (GRCm39) M7K probably benign Het
Igkv12-44 C T 6: 69,791,639 (GRCm39) C108Y possibly damaging Het
Lum T C 10: 97,404,815 (GRCm39) S237P probably damaging Het
Macf1 T C 4: 123,365,606 (GRCm39) K3052E probably damaging Het
Mdn1 A G 4: 32,707,475 (GRCm39) E1588G probably damaging Het
Ndst3 T C 3: 123,465,876 (GRCm39) Y32C probably damaging Het
Nucb2 A G 7: 116,126,902 (GRCm39) T172A probably benign Het
Or52b1 T C 7: 104,978,592 (GRCm39) N269S probably damaging Het
Pard3 G T 8: 128,200,877 (GRCm39) R978L probably damaging Het
Pcdha4 A G 18: 37,086,639 (GRCm39) probably null Het
Pgk2 A G 17: 40,519,149 (GRCm39) V93A probably damaging Het
Pik3c3 G A 18: 30,444,336 (GRCm39) M516I probably benign Het
Plxnb2 A G 15: 89,043,845 (GRCm39) F1336L probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l1 G C 12: 82,471,988 (GRCm39) G1323R possibly damaging Het
Sntg1 A T 1: 8,653,569 (GRCm39) probably null Het
Spef2 T C 15: 9,626,107 (GRCm39) K1153R probably benign Het
Strn3 C T 12: 51,673,914 (GRCm39) V566M probably damaging Het
Svep1 A G 4: 58,069,068 (GRCm39) F2906S possibly damaging Het
Tbc1d8 C T 1: 39,425,216 (GRCm39) V545M probably damaging Het
Tmem131 T C 1: 36,847,874 (GRCm39) probably benign Het
Tubgcp5 G A 7: 55,455,077 (GRCm39) V258M probably benign Het
Vat1l G C 8: 114,932,543 (GRCm39) G30R possibly damaging Het
Vegfb T C 19: 6,963,446 (GRCm39) Y106C probably damaging Het
Vmn2r100 AAAACAGGAGTATTGATTGGAAAC AAAAC 17: 19,743,681 (GRCm39) probably null Het
Zc3h15 T C 2: 83,488,913 (GRCm39) V161A probably benign Het
Other mutations in Tnfsf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Tnfsf8 APN 4 63,752,747 (GRCm39) splice site probably benign
G1Funyon:Tnfsf8 UTSW 4 63,779,115 (GRCm39) missense probably benign 0.31
P0045:Tnfsf8 UTSW 4 63,769,404 (GRCm39) splice site probably benign
R0322:Tnfsf8 UTSW 4 63,752,403 (GRCm39) missense probably damaging 0.96
R1167:Tnfsf8 UTSW 4 63,755,323 (GRCm39) missense possibly damaging 0.55
R3821:Tnfsf8 UTSW 4 63,779,127 (GRCm39) missense probably benign 0.17
R3893:Tnfsf8 UTSW 4 63,779,196 (GRCm39) missense possibly damaging 0.86
R4380:Tnfsf8 UTSW 4 63,779,264 (GRCm39) nonsense probably null
R4597:Tnfsf8 UTSW 4 63,755,337 (GRCm39) missense probably damaging 1.00
R7502:Tnfsf8 UTSW 4 63,769,398 (GRCm39) missense probably damaging 1.00
R7740:Tnfsf8 UTSW 4 63,752,683 (GRCm39) missense possibly damaging 0.70
R8062:Tnfsf8 UTSW 4 63,779,432 (GRCm39) start gained probably benign
R8126:Tnfsf8 UTSW 4 63,752,423 (GRCm39) missense possibly damaging 0.94
R8301:Tnfsf8 UTSW 4 63,779,115 (GRCm39) missense probably benign 0.31
R8335:Tnfsf8 UTSW 4 63,752,352 (GRCm39) missense probably damaging 0.98
R9206:Tnfsf8 UTSW 4 63,752,450 (GRCm39) missense probably benign 0.25
R9208:Tnfsf8 UTSW 4 63,752,450 (GRCm39) missense probably benign 0.25
R9251:Tnfsf8 UTSW 4 63,779,217 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TATCCACCCTGACTGATATGGTAG -3'
(R):5'- TACCCTTCTAGAAAACAGAGATGC -3'

Sequencing Primer
(F):5'- ACCCTGACTGATATGGTAGAGTTGAC -3'
(R):5'- AGAGGTTTCCAAGATGTACCTAAC -3'
Posted On 2015-05-14