Incidental Mutation 'R4380:Tnfsf8'
ID 325284
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 041678-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4380 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 63749545-63779584 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 63779264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 11 (C11*)
Ref Sequence ENSEMBL: ENSMUSP00000030047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030047]
AlphaFold P32972
Predicted Effect probably null
Transcript: ENSMUST00000030047
AA Change: C11*
SMART Domains Protein: ENSMUSP00000030047
Gene: ENSMUSG00000028362
AA Change: C11*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (45/46)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik T C 7: 44,326,580 (GRCm39) noncoding transcript Het
Casc3 C A 11: 98,713,857 (GRCm39) P363Q possibly damaging Het
Cep162 C A 9: 87,082,056 (GRCm39) R1283L probably damaging Het
Clk3 C A 9: 57,659,075 (GRCm39) W562L probably damaging Het
Col17a1 G A 19: 47,645,529 (GRCm39) T844M possibly damaging Het
Dntt G C 19: 41,041,672 (GRCm39) G452A probably damaging Het
Dop1b G A 16: 93,513,120 (GRCm39) V20I possibly damaging Het
Dst T C 1: 34,202,316 (GRCm39) S215P probably damaging Het
Dync1li2 A T 8: 105,154,798 (GRCm39) I270N probably damaging Het
Egflam A T 15: 7,273,350 (GRCm39) I575N possibly damaging Het
Gldc G T 19: 30,138,168 (GRCm39) probably benign Het
Gm17067 C A 7: 42,357,462 (GRCm39) V347L probably benign Het
Gmds T A 13: 32,101,679 (GRCm39) N304I probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Igfn1 T C 1: 135,895,509 (GRCm39) T1686A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamb3 A T 1: 193,013,683 (GRCm39) Q519L probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Macf1 A G 4: 123,248,285 (GRCm39) probably benign Het
Mcfd2 C G 17: 87,565,387 (GRCm39) G39R possibly damaging Het
Mecom T C 3: 30,041,219 (GRCm39) H125R probably damaging Het
Nme7 A G 1: 164,172,807 (GRCm39) T173A probably benign Het
Or4s2b A G 2: 88,508,615 (GRCm39) T132A possibly damaging Het
Or5ac15 C T 16: 58,940,027 (GRCm39) M135I probably benign Het
Pde1c T A 6: 56,049,263 (GRCm39) R683S probably null Het
Pkn2 A T 3: 142,536,217 (GRCm39) probably benign Het
Plppr4 T G 3: 117,116,046 (GRCm39) T604P probably benign Het
Pramel23 T A 4: 143,424,856 (GRCm39) I196F probably benign Het
Slc34a2 C T 5: 53,226,628 (GRCm39) P584S probably damaging Het
Slco5a1 A T 1: 13,009,392 (GRCm39) M361K probably damaging Het
Snx4 T A 16: 33,084,666 (GRCm39) I60N probably damaging Het
Sp6 T C 11: 96,912,572 (GRCm39) L95P probably damaging Het
Stat5b A G 11: 100,678,175 (GRCm39) F646S probably damaging Het
Tbc1d1 T C 5: 64,490,891 (GRCm39) M785T probably benign Het
Tbc1d22a T A 15: 86,235,935 (GRCm39) C365S probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Ttn A T 2: 76,748,485 (GRCm39) V4188E probably damaging Het
Ugt2b5 T A 5: 87,275,753 (GRCm39) H366L probably damaging Het
Wdr17 T C 8: 55,101,442 (GRCm39) probably benign Het
Zfhx3 A G 8: 109,683,022 (GRCm39) Y3487C unknown Het
Zfp28 C T 7: 6,396,441 (GRCm39) T292I 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
R4154:Tnfsf8 UTSW 4 63,752,595 (GRCm39) missense probably benign 0.00
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'- TGGACTACCAGTACCAGAATGATC -3'
(R):5'- ACTCAGATTAATCCCAGGCG -3'

Sequencing Primer
(F):5'- GTACCAGAATGATCGCCACTG -3'
(R):5'- AGAAGAGTTTCTCCATCCGGC -3'
Posted On 2015-07-06