Incidental Mutation 'R8255:Tnfrsf8'
ID 640598
Institutional Source Beutler Lab
Gene Symbol Tnfrsf8
Ensembl Gene ENSMUSG00000028602
Gene Name tumor necrosis factor receptor superfamily, member 8
Synonyms CD30
MMRRC Submission 067681-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8255 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 144993707-145041734 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 145041653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000030339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030339] [ENSMUST00000123027]
AlphaFold Q60846
Predicted Effect probably null
Transcript: ENSMUST00000030339
AA Change: M1K
SMART Domains Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: M1K

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 null
Transcript: ENSMUST00000123027
AA Change: M1K
SMART Domains Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602
AA Change: M1K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (46/46)
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,415,850 (GRCm39) T648S possibly damaging Het
Abca12 T A 1: 71,359,058 (GRCm39) I583F probably benign Het
Abca4 A T 3: 121,948,926 (GRCm39) M1732L probably benign Het
Ank2 A G 3: 126,740,398 (GRCm39) S1742P unknown Het
Birc6 G A 17: 74,969,775 (GRCm39) A4273T probably damaging Het
Chd5 A G 4: 152,463,880 (GRCm39) T1450A probably damaging Het
Dhx32 T C 7: 133,339,120 (GRCm39) N305S probably benign Het
Dnah7c T C 1: 46,698,589 (GRCm39) S2174P probably damaging Het
Fat2 T A 11: 55,161,101 (GRCm39) I3210F probably benign Het
Gm12888 A G 4: 121,181,994 (GRCm39) S33P probably damaging Het
Gpaa1 T C 15: 76,217,438 (GRCm39) L292P probably damaging Het
Gzmg T A 14: 56,395,753 (GRCm39) R69W probably damaging Het
Hat1 A G 2: 71,239,347 (GRCm39) D40G probably damaging Het
Hcrtr2 T A 9: 76,140,203 (GRCm39) I362F probably damaging Het
Hmmr T C 11: 40,598,262 (GRCm39) E650G probably damaging Het
Ifi35 A T 11: 101,348,608 (GRCm39) M180L probably benign Het
Ifi44 A T 3: 151,451,619 (GRCm39) H162Q probably benign Het
Il1rl2 T C 1: 40,404,471 (GRCm39) F531L probably damaging Het
Ipcef1 T G 10: 6,870,007 (GRCm39) K182T probably benign Het
Med27 C A 2: 29,414,376 (GRCm39) probably null Het
Med31 G A 11: 72,106,294 (GRCm39) probably benign Het
Moxd1 A G 10: 24,099,700 (GRCm39) T67A probably benign Het
Myh3 A G 11: 66,985,848 (GRCm39) E1266G probably damaging Het
Nkx2-4 C A 2: 146,925,924 (GRCm39) E313* probably null Het
Nol6 G T 4: 41,120,168 (GRCm39) R487S probably benign Het
Or2v1 C A 11: 49,025,307 (GRCm39) A96D probably benign Het
Or2z8 T A 8: 72,811,607 (GRCm39) F28I possibly damaging Het
Or4k15c C T 14: 50,321,329 (GRCm39) V270I noncoding transcript Het
Or5p51 A G 7: 107,444,368 (GRCm39) S191P probably damaging Het
Rnf135 A G 11: 80,084,713 (GRCm39) D162G probably benign Het
Sdr42e1 G T 8: 118,390,502 (GRCm39) N46K probably benign Het
Skor2 T C 18: 76,946,664 (GRCm39) S129P unknown Het
Slc7a11 A T 3: 50,382,177 (GRCm39) I190N probably damaging Het
Smc5 A T 19: 23,186,290 (GRCm39) F1056I Het
Son A T 16: 91,461,824 (GRCm39) Q2243L unknown Het
Sult1a1 T A 7: 126,274,280 (GRCm39) I101F possibly damaging Het
Sult3a2 T C 10: 33,655,747 (GRCm39) I77M probably benign Het
Tas1r1 A T 4: 152,116,774 (GRCm39) S287T probably benign Het
Thbs3 A C 3: 89,132,565 (GRCm39) T836P probably benign Het
Tlcd3b G A 7: 126,423,275 (GRCm39) V6M probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Vmn1r121 T G 7: 20,831,679 (GRCm39) N254H probably benign Het
Vmn1r179 C T 7: 23,628,436 (GRCm39) A209V probably benign Het
Wdr31 A T 4: 62,381,634 (GRCm39) S66T probably benign Het
Zbtb18 T C 1: 177,275,003 (GRCm39) V121A probably damaging Het
Zfp30 T A 7: 29,488,826 (GRCm39) M82K probably benign Het
Zzef1 A G 11: 72,765,955 (GRCm39) Q1494R 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
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
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'- CAGTTATCCACCCACCTGTG -3'
(R):5'- AGTCATCTCTGCACGTGGTG -3'

Sequencing Primer
(F):5'- CACCTGTGGATGCTTGCATATTTTAG -3'
(R):5'- CTCTCTTAGGCTTCACAGGC -3'
Posted On 2020-07-28