Incidental Mutation 'R8335:Tnfsf8'
ID 644573
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 067863-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8335 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 63749545-63779584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63752352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 238 (S238P)
Ref Sequence ENSEMBL: ENSMUSP00000030047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030047]
AlphaFold P32972
Predicted Effect probably damaging
Transcript: ENSMUST00000030047
AA Change: S238P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030047
Gene: ENSMUSG00000028362
AA Change: S238P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 97% (33/34)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc47 C G 11: 106,099,084 (GRCm39) E202D possibly damaging Het
Ccdc47 T C 11: 106,099,085 (GRCm39) E202G probably damaging Het
Depdc1a C A 3: 159,228,859 (GRCm39) P537Q probably damaging Het
Dync2h1 A T 9: 7,084,941 (GRCm39) M2816K probably benign Het
Gatb T C 3: 85,481,628 (GRCm39) probably null Het
Gm6356 A G 14: 6,971,838 (GRCm38) M99T probably benign Het
Ighv1-67 A C 12: 115,567,744 (GRCm39) V56G probably damaging Het
Il27ra A T 8: 84,766,130 (GRCm39) L218Q probably damaging Het
Madd G A 2: 91,000,584 (GRCm39) R494C probably damaging Het
Mfsd8 G A 3: 40,789,628 (GRCm39) R140C probably damaging Het
Mink1 C T 11: 70,500,401 (GRCm39) R784W probably damaging Het
Mttp C T 3: 137,808,973 (GRCm39) D697N possibly damaging Het
Mug2 A T 6: 122,017,543 (GRCm39) M427L probably benign Het
Or10ag57 A G 2: 87,218,204 (GRCm39) I52V probably benign Het
Or13l2 T C 3: 97,318,024 (GRCm39) N158D probably benign Het
Or4a67 G T 2: 88,598,117 (GRCm39) P181T probably damaging Het
Or8k3b T A 2: 86,520,512 (GRCm39) D269V probably benign Het
Paxip1 T C 5: 27,971,122 (GRCm39) H409R unknown Het
Pkp3 T C 7: 140,667,669 (GRCm39) I490T probably damaging Het
Plekhg4 G T 8: 106,102,848 (GRCm39) V236L probably damaging Het
Pm20d2 T C 4: 33,189,245 (GRCm39) S46G probably benign Het
Prss33 A G 17: 24,053,569 (GRCm39) probably null Het
Ptpn3 A T 4: 57,235,286 (GRCm39) L358I probably damaging Het
Pxdn A G 12: 30,052,096 (GRCm39) T758A probably damaging Het
Sall3 G A 18: 81,012,801 (GRCm39) R1212C probably benign Het
Sox6 G A 7: 115,300,949 (GRCm39) L173F probably damaging Het
Spata20 T C 11: 94,373,369 (GRCm39) K501E probably benign Het
Stat2 G A 10: 128,112,452 (GRCm39) V31I possibly damaging Het
Synpo2 T A 3: 122,908,183 (GRCm39) N378Y probably damaging Het
Tacr2 A T 10: 62,100,946 (GRCm39) H352L probably benign Het
Tmem214 A G 5: 31,029,466 (GRCm39) K230E possibly damaging Het
Tnn C T 1: 159,946,053 (GRCm39) G922R probably damaging Het
Trhde A G 10: 114,322,609 (GRCm39) probably null Het
Ttc6 A G 12: 57,707,077 (GRCm39) I661M probably benign Het
Vmn1r209 T A 13: 22,989,977 (GRCm39) M238L probably damaging Het
Vmn2r29 A G 7: 7,234,445 (GRCm39) S814P probably damaging Het
Vsig10 T C 5: 117,486,435 (GRCm39) L448P probably damaging Het
Xpo1 T G 11: 23,230,603 (GRCm39) probably null Het
Zfp616 A T 11: 73,974,726 (GRCm39) K423* probably null 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
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
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'- GAGACTCCACTTTCTAAATCCTGG -3'
(R):5'- ACCTGACATTGCAGCTCCTC -3'

Sequencing Primer
(F):5'- CCTGGGTTTGTATTTTTCCAAAGGAC -3'
(R):5'- TTCCAAGATCAAAAAGCAGACGTTG -3'
Posted On 2020-09-02