|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor receptor superfamily, member 8|
|Is this an essential gene?||Probably non essential (E-score: 0.053)|
|Stock #||R6326 (G1)|
|Chromosomal Location||145267137-145315164 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 145269224 bp|
|Amino Acid Change||Isoleucine to Leucine at position 422 (I422L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030339 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030339] [ENSMUST00000123027]|
|Predicted Effect||probably damaging
AA Change: I422L
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: I422L
|Predicted Effect||probably benign
|Coding Region Coverage||
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||
|Other mutations in Tnfrsf8||
(F):5'- TTCTCAGAGACAGTCGTGGG -3'
(R):5'- CTGGACTGACTGCATTCTGTC -3'
(F):5'- ACCGAGAACATGACCTCAGTG -3'
(R):5'- GTCCATCTCTGATGACATGCCTAAG -3'