Incidental Mutation 'R3893:Tnfsf8'
ID 310027
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 040805-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3893 (G1)
Quality Score 153
Status Validated
Chromosome 4
Chromosomal Location 63749545-63779584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 63779196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 34 (T34K)
Ref Sequence ENSEMBL: ENSMUSP00000030047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030047]
AlphaFold P32972
Predicted Effect possibly damaging
Transcript: ENSMUST00000030047
AA Change: T34K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030047
Gene: ENSMUSG00000028362
AA Change: T34K

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (42/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik A T 9: 98,068,864 (GRCm39) noncoding transcript Het
Adam19 C T 11: 46,019,665 (GRCm39) A455V probably damaging Het
Akr1c19 G A 13: 4,288,441 (GRCm39) D140N probably damaging Het
Atoh1 A G 6: 64,707,117 (GRCm39) T271A probably damaging Het
Atp6v0a2 G A 5: 124,777,203 (GRCm39) R168Q probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Cadps A G 14: 12,488,883 (GRCm38) probably benign Het
Cfap69 A T 5: 5,631,245 (GRCm39) V61E probably damaging Het
Chd5 A G 4: 152,445,113 (GRCm39) R365G probably damaging Het
Cracdl T A 1: 37,670,539 (GRCm39) M134L probably benign Het
Cyria T C 12: 12,412,526 (GRCm39) V232A probably benign Het
Dnajc18 A T 18: 35,834,048 (GRCm39) probably null Het
Fmnl1 T A 11: 103,087,583 (GRCm39) probably benign Het
Gca A G 2: 62,509,564 (GRCm39) Y89C probably damaging Het
Gcnt2 A G 13: 41,013,922 (GRCm39) Y31C probably benign Het
Gem C T 4: 11,705,889 (GRCm39) probably benign Het
Ggps1 T C 13: 14,228,284 (GRCm39) K300E probably benign Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
Gprin3 T C 6: 59,331,464 (GRCm39) Y281C probably benign Het
H2-M11 A G 17: 36,857,982 (GRCm39) T6A probably benign Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Lrrk1 T C 7: 65,928,268 (GRCm39) probably benign Het
Macf1 A G 4: 123,380,199 (GRCm39) Y1298H probably damaging Het
Micu3 C T 8: 40,819,265 (GRCm39) L315F probably damaging Het
Pkd1 G A 17: 24,791,084 (GRCm39) probably null Het
Pkhd1 A T 1: 20,382,362 (GRCm39) Y2596* probably null Het
Pnliprp2 A G 19: 58,754,705 (GRCm39) S250G probably benign Het
Prkcq A C 2: 11,231,782 (GRCm39) E35A probably damaging Het
Prpf8 C A 11: 75,391,083 (GRCm39) S1377R possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rsbn1l C T 5: 21,110,838 (GRCm39) R500H probably damaging Het
Sart3 C T 5: 113,884,697 (GRCm39) E636K probably benign Het
Skint3 A G 4: 112,111,115 (GRCm39) K80R probably damaging Het
Slc11a1 G A 1: 74,423,865 (GRCm39) A398T probably damaging Het
Sspo G T 6: 48,453,505 (GRCm39) E2887* probably null Het
Tmc5 A C 7: 118,244,592 (GRCm39) Y490S probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Trim5 T A 7: 103,926,042 (GRCm39) N173I probably damaging Het
Vkorc1l1 A T 5: 130,011,112 (GRCm39) I109L probably benign Het
Vmn1r214 A G 13: 23,218,811 (GRCm39) T102A probably benign Het
Wdr19 A G 5: 65,385,635 (GRCm39) D579G possibly damaging Het
Zc3h6 A G 2: 128,858,060 (GRCm39) Y697C probably damaging Het
Zfp955b T C 17: 33,521,968 (GRCm39) I479T 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
R4154:Tnfsf8 UTSW 4 63,752,595 (GRCm39) missense probably benign 0.00
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'- TTCATTAGCTTCCCAGAGCTG -3'
(R):5'- CACATGATCCAGGATGCAGG -3'

Sequencing Primer
(F):5'- CCCAGAGCTGTTCCTCTAGAG -3'
(R):5'- ATGCAGGGGAAAATCCTTCTTG -3'
Posted On 2015-04-17