Incidental Mutation 'R3056:Tnfrsf8'
ID 265172
Institutional Source Beutler Lab
Gene Symbol Tnfrsf8
Ensembl Gene ENSMUSG00000028602
Gene Name tumor necrosis factor receptor superfamily, member 8
Synonyms CD30
MMRRC Submission 040565-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R3056 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 144993707-145041734 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 145011895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030339] [ENSMUST00000123027]
AlphaFold Q60846
Predicted Effect probably null
Transcript: ENSMUST00000030339
SMART Domains Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
TNFR 29 65 2.33e0 SMART
TNFR 69 105 5.51e-7 SMART
TNFR 107 146 2.87e-5 SMART
low complexity region 149 161 N/A INTRINSIC
transmembrane domain 288 310 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123027
SMART Domains Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
TNFR 29 65 2.33e0 SMART
TNFR 69 105 5.51e-7 SMART
TNFR 107 146 2.87e-5 SMART
low complexity region 149 161 N/A INTRINSIC
low complexity region 293 313 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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 member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display an enlarged thymus, impaired activation-induced death of double-positive thymocytes after CD3 cross-linking, and 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
Aadacl4fm4 A G 4: 144,401,268 (GRCm39) I72T probably benign Het
Abca1 A T 4: 53,127,626 (GRCm39) M131K probably benign Het
Agbl1 C T 7: 76,416,232 (GRCm39) T751M possibly damaging Het
Asb14 A G 14: 26,636,146 (GRCm39) I510V possibly damaging Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
C6 T C 15: 4,769,355 (GRCm39) I187T probably damaging Het
Catsper3 T C 13: 55,956,709 (GRCm39) S376P unknown Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cntn5 A G 9: 10,419,076 (GRCm39) L7P probably benign Het
Cplane1 T C 15: 8,280,491 (GRCm39) S2805P unknown Het
Cxcr6 A T 9: 123,639,529 (GRCm39) I177F probably damaging Het
Dnah7b A G 1: 46,307,869 (GRCm39) D3061G possibly damaging Het
Epas1 T C 17: 87,138,409 (GRCm39) F835S probably damaging Het
Fat3 C T 9: 15,871,792 (GRCm39) R3533H probably benign Het
Fxr1 A G 3: 34,103,333 (GRCm39) E221G probably damaging Het
Gpatch11 A G 17: 79,151,272 (GRCm39) T228A probably damaging Het
Greb1 G T 12: 16,738,592 (GRCm39) T1457K probably damaging Het
Ighm T A 12: 113,382,596 (GRCm39) probably benign Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Lmx1b G A 2: 33,457,297 (GRCm39) Q168* probably null Het
Ltbp3 C A 19: 5,801,434 (GRCm39) N659K probably benign Het
Micos13 A G 17: 56,915,889 (GRCm39) F55S probably damaging Het
Mrpl20 G T 4: 155,888,329 (GRCm39) V43F possibly damaging Het
Nlgn1 T C 3: 25,487,860 (GRCm39) N825S possibly damaging Het
Or5d36 T A 2: 87,901,583 (GRCm39) T48S probably benign Het
Or5p67 A T 7: 107,922,757 (GRCm39) V42E possibly damaging Het
Or8k3b C A 2: 86,520,896 (GRCm39) C141F possibly damaging Het
Pccb C T 9: 100,912,250 (GRCm39) R79Q probably damaging Het
Peg10 G A 6: 4,755,029 (GRCm39) R270H possibly damaging Het
Pttg1ip2 A T 5: 5,507,283 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Timm29 T C 9: 21,504,887 (GRCm39) M185T probably damaging Het
Tmem92 C T 11: 94,669,873 (GRCm39) C86Y probably benign Het
Tnks1bp1 T A 2: 84,900,344 (GRCm39) C1433* probably null Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vmn2r110 T A 17: 20,803,360 (GRCm39) Y405F probably damaging Het
Wiz A G 17: 32,576,671 (GRCm39) S628P probably benign Het
Xrcc4 T C 13: 90,210,196 (GRCm39) T83A probably benign Het
Other mutations in Tnfrsf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Tnfrsf8 APN 4 145,019,161 (GRCm39) splice site probably null
IGL02815:Tnfrsf8 APN 4 145,025,348 (GRCm39) missense possibly damaging 0.68
IGL02819:Tnfrsf8 APN 4 144,995,703 (GRCm39) missense probably damaging 1.00
IGL03033:Tnfrsf8 APN 4 145,019,219 (GRCm39) missense possibly damaging 0.86
IGL03105:Tnfrsf8 APN 4 145,025,354 (GRCm39) missense probably damaging 1.00
IGL02837:Tnfrsf8 UTSW 4 144,995,568 (GRCm39) missense probably benign 0.10
R0114:Tnfrsf8 UTSW 4 145,014,617 (GRCm39) missense possibly damaging 0.95
R0326:Tnfrsf8 UTSW 4 145,015,029 (GRCm39) missense possibly damaging 0.64
R0594:Tnfrsf8 UTSW 4 145,023,431 (GRCm39) missense probably damaging 1.00
R0639:Tnfrsf8 UTSW 4 145,014,597 (GRCm39) missense probably benign 0.24
R0826:Tnfrsf8 UTSW 4 145,011,708 (GRCm39) splice site probably benign
R4700:Tnfrsf8 UTSW 4 145,029,692 (GRCm39) missense probably damaging 0.99
R4765:Tnfrsf8 UTSW 4 145,023,447 (GRCm39) missense probably benign 0.19
R5149:Tnfrsf8 UTSW 4 145,029,675 (GRCm39) missense possibly damaging 0.53
R5452:Tnfrsf8 UTSW 4 145,019,214 (GRCm39) missense possibly damaging 0.96
R5632:Tnfrsf8 UTSW 4 145,019,203 (GRCm39) missense possibly damaging 0.68
R5673:Tnfrsf8 UTSW 4 145,011,905 (GRCm39) missense probably benign 0.14
R5877:Tnfrsf8 UTSW 4 145,019,257 (GRCm39) missense probably benign 0.20
R6243:Tnfrsf8 UTSW 4 145,029,671 (GRCm39) missense possibly damaging 0.61
R6259:Tnfrsf8 UTSW 4 145,004,094 (GRCm39) critical splice donor site probably null
R6326:Tnfrsf8 UTSW 4 144,995,794 (GRCm39) missense probably damaging 1.00
R6603:Tnfrsf8 UTSW 4 145,019,168 (GRCm39) missense possibly damaging 0.70
R7025:Tnfrsf8 UTSW 4 145,000,973 (GRCm39) missense possibly damaging 0.87
R7156:Tnfrsf8 UTSW 4 145,041,654 (GRCm39) start codon destroyed unknown
R7313:Tnfrsf8 UTSW 4 145,000,952 (GRCm39) missense probably benign 0.33
R7505:Tnfrsf8 UTSW 4 144,995,685 (GRCm39) missense probably damaging 1.00
R8255:Tnfrsf8 UTSW 4 145,041,653 (GRCm39) start codon destroyed probably null
R8354:Tnfrsf8 UTSW 4 145,014,553 (GRCm39) missense probably benign 0.41
R8406:Tnfrsf8 UTSW 4 145,019,265 (GRCm39) missense probably damaging 0.98
R8454:Tnfrsf8 UTSW 4 145,014,553 (GRCm39) missense probably benign 0.41
R8554:Tnfrsf8 UTSW 4 145,023,511 (GRCm39) missense probably damaging 1.00
R8894:Tnfrsf8 UTSW 4 145,001,038 (GRCm39) missense possibly damaging 0.94
R9125:Tnfrsf8 UTSW 4 145,023,531 (GRCm39) missense probably damaging 1.00
R9711:Tnfrsf8 UTSW 4 145,019,668 (GRCm39) critical splice donor site probably null
Z1177:Tnfrsf8 UTSW 4 145,019,279 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- ACCTATCCATTCTGGCCCAG -3'
(R):5'- TGTCCTGTGTAGTCCAGGGAAG -3'

Sequencing Primer
(F):5'- CCAGATAGCCCTTTGCATGG -3'
(R):5'- GGGCCCTGGCTCCTAGC -3'
Posted On 2015-02-05