Incidental Mutation 'IGL02819:Tnfrsf8'
ID 360911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf8
Ensembl Gene ENSMUSG00000028602
Gene Name tumor necrosis factor receptor superfamily, member 8
Synonyms CD30
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02819
Quality Score
Chromosome 4
Chromosomal Location 144993707-145041734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144995703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 452 (E452G)
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: E452G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: E452G

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

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D 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
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
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
Posted On 2015-12-18