Incidental Mutation 'R8554:Tnfrsf8'
ID 660011
Institutional Source Beutler Lab
Gene Symbol Tnfrsf8
Ensembl Gene ENSMUSG00000028602
Gene Name tumor necrosis factor receptor superfamily, member 8
Synonyms CD30
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 144993707-145041734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 145023511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 107 (C107W)
Ref Sequence ENSEMBL: ENSMUSP00000030339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030339] [ENSMUST00000123027]
AlphaFold Q60846
Predicted Effect probably damaging
Transcript: ENSMUST00000030339
AA Change: C107W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: C107W

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: C107W

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602
AA Change: C107W

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M 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
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
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'- GATGCTGCACACATCACAG -3'
(R):5'- AGCCAACTGGTCTGACAGAG -3'

Sequencing Primer
(F):5'- GAGAGAAGCTTCGACCTGTTTATCC -3'
(R):5'- ACAGAGGGTCATGTGGCATCTTAC -3'
Posted On 2021-01-18