Incidental Mutation 'R5632:Tnfrsf8'
ID 439909
Institutional Source Beutler Lab
Gene Symbol Tnfrsf8
Ensembl Gene ENSMUSG00000028602
Gene Name tumor necrosis factor receptor superfamily, member 8
Synonyms CD30
MMRRC Submission 043283-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5632 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 144993707-145041734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 145019203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 211 (S211T)
Ref Sequence ENSEMBL: ENSMUSP00000030339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030339] [ENSMUST00000123027]
AlphaFold Q60846
Predicted Effect possibly damaging
Transcript: ENSMUST00000030339
AA Change: S211T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: S211T

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 possibly damaging
Transcript: ENSMUST00000123027
AA Change: S211T

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602
AA Change: S211T

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,664,076 (GRCm39) T7A probably benign Het
Adam33 T G 2: 130,895,362 (GRCm39) D619A probably damaging Het
Ajm1 T C 2: 25,469,276 (GRCm39) T212A probably benign Het
Aldh3b3 C T 19: 4,018,522 (GRCm39) probably benign Het
Arhgef15 G A 11: 68,844,877 (GRCm39) P240L probably benign Het
Arhgef40 C A 14: 52,231,795 (GRCm39) T727K probably damaging Het
Arrdc1 T C 2: 24,817,840 (GRCm39) T43A probably benign Het
Bcl2l15 A G 3: 103,743,378 (GRCm39) N93S probably benign Het
Cd5l G T 3: 87,273,414 (GRCm39) E128* probably null Het
Cep97 T C 16: 55,735,946 (GRCm39) D284G probably benign Het
Ckmt1 T A 2: 121,191,073 (GRCm39) S162T probably damaging Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cpeb4 A G 11: 31,839,877 (GRCm39) D53G probably damaging Het
Crocc2 T A 1: 93,145,575 (GRCm39) S1485R probably damaging Het
Dcaf5 G A 12: 80,444,526 (GRCm39) A189V probably damaging Het
Duox2 C T 2: 122,111,936 (GRCm39) G1355S probably damaging Het
Fam120b C T 17: 15,623,344 (GRCm39) P441S probably benign Het
Fbxo41 A G 6: 85,461,486 (GRCm39) L74P probably damaging Het
H2-DMa A G 17: 34,356,975 (GRCm39) T158A probably benign Het
Hcar2 T A 5: 124,002,532 (GRCm39) T324S probably benign Het
Hif3a T C 7: 16,784,580 (GRCm39) I222V possibly damaging Het
Ighv1-7 A G 12: 114,502,501 (GRCm39) probably benign Het
Il20 T C 1: 130,835,165 (GRCm39) E151G probably benign Het
Jarid2 A G 13: 45,049,766 (GRCm39) E236G probably damaging Het
Knl1 T C 2: 118,900,833 (GRCm39) S845P probably damaging Het
Lamc2 T C 1: 153,007,636 (GRCm39) Y846C probably damaging Het
Lrp5 A G 19: 3,672,512 (GRCm39) V599A probably benign Het
Lrrc8b T A 5: 105,628,163 (GRCm39) S170T possibly damaging Het
Mex3d T C 10: 80,218,428 (GRCm39) K263R probably damaging Het
Mtor A G 4: 148,553,463 (GRCm39) K784E possibly damaging Het
Naip5 C A 13: 100,367,170 (GRCm39) probably null Het
Ncor1 T C 11: 62,229,060 (GRCm39) T609A possibly damaging Het
Ndufs1 C T 1: 63,189,218 (GRCm39) A536T probably benign Het
Neto1 A G 18: 86,516,768 (GRCm39) I362V probably benign Het
Nfatc3 T C 8: 106,805,689 (GRCm39) L178P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nsd3 C T 8: 26,169,985 (GRCm39) T707M probably benign Het
Or51f2 A C 7: 102,527,004 (GRCm39) S226R probably benign Het
Or5w1b A T 2: 87,475,573 (GRCm39) V298E probably damaging Het
Or9g19 T C 2: 85,600,613 (GRCm39) V156A probably benign Het
Pcnx1 T A 12: 81,964,504 (GRCm39) S224T probably damaging Het
Peak1 T C 9: 56,165,058 (GRCm39) T957A probably damaging Het
Pex7 A T 10: 19,764,483 (GRCm39) D153E probably damaging Het
Plscr1 A G 9: 92,148,477 (GRCm39) E139G probably damaging Het
Psmb8 T C 17: 34,420,214 (GRCm39) Y269H probably benign Het
Rmc1 T C 18: 12,304,640 (GRCm39) F72L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Sft2d2 T C 1: 165,012,657 (GRCm39) T80A probably damaging Het
Slc12a5 A G 2: 164,829,141 (GRCm39) I583M possibly damaging Het
Slc23a4 T C 6: 34,933,957 (GRCm39) M49V probably benign Het
Smarcb1 G A 10: 75,740,252 (GRCm39) Q309* probably null Het
Sphkap A T 1: 83,256,006 (GRCm39) V294E probably benign Het
Stoml1 C A 9: 58,160,653 (GRCm39) P35Q probably damaging Het
Timm10b G C 7: 105,290,329 (GRCm39) R42P probably damaging Het
Ttn T C 2: 76,536,164 (GRCm39) T26738A probably damaging Het
Vps13d A T 4: 144,801,452 (GRCm39) Y474N probably damaging Het
Wdr81 A T 11: 75,336,732 (GRCm39) F1552L probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wnt7a A C 6: 91,371,637 (GRCm39) Y108* probably null Het
Zfp512b C T 2: 181,227,461 (GRCm39) R56K 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
R3056:Tnfrsf8 UTSW 4 145,011,895 (GRCm39) critical splice donor site probably null
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
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'- CAGGACCTTTGGCACTTGAG -3'
(R):5'- AGCCTTTCTCCATAGACACTAATCC -3'

Sequencing Primer
(F):5'- ACTTGAGCCTCAGCCTCAG -3'
(R):5'- TTCTCCATAGACACTAATCCCCAAAC -3'
Posted On 2016-11-08