Incidental Mutation 'IGL01934:Tnfsf8'
ID180590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfsf8
Ensembl Gene ENSMUSG00000028362
Gene Nametumor necrosis factor (ligand) superfamily, member 8
SynonymsCD153, CD30LG, Cd30L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01934
Quality Score
Status
Chromosome4
Chromosomal Location63831308-63861347 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 63834510 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030047]
Predicted Effect probably benign
Transcript: ENSMUST00000030047
SMART Domains Protein: ENSMUSP00000030047
Gene: ENSMUSG00000028362

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
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Tnfsf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0045:Tnfsf8 UTSW 4 63851167 splice site probably benign
R0322:Tnfsf8 UTSW 4 63834166 missense probably damaging 0.96
R1167:Tnfsf8 UTSW 4 63837086 missense possibly damaging 0.55
R3821:Tnfsf8 UTSW 4 63860890 missense probably benign 0.17
R3893:Tnfsf8 UTSW 4 63860959 missense possibly damaging 0.86
R4154:Tnfsf8 UTSW 4 63834358 missense probably benign 0.00
R4380:Tnfsf8 UTSW 4 63861027 nonsense probably null
R4597:Tnfsf8 UTSW 4 63837100 missense probably damaging 1.00
R7502:Tnfsf8 UTSW 4 63851161 missense probably damaging 1.00
R7740:Tnfsf8 UTSW 4 63834446 missense possibly damaging 0.70
R8062:Tnfsf8 UTSW 4 63861195 start gained probably benign
R8126:Tnfsf8 UTSW 4 63834186 missense possibly damaging 0.94
R8301:Tnfsf8 UTSW 4 63860878 missense probably benign 0.31
R8335:Tnfsf8 UTSW 4 63834115 missense probably damaging 0.98
Posted On2014-05-07