|Institutional Source||Beutler Lab|
|Gene Name||Fas (TNF receptor superfamily member 6)|
|Synonyms||APO-1, CD95, TNFR6, Tnfrsf6|
|Is this an essential gene?||Probably non essential (E-score: 0.132)|
|Stock #||R5252 (G1)|
|Chromosomal Location||34290659-34327770 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 34316643 bp|
|Amino Acid Change||Serine to Proline at position 133 (S133P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025691 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025691]|
|Predicted Effect||probably damaging
AA Change: S133P
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: S133P
|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 contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mutations in this locus affect immune function and homozygotes show varying severity of lymphadenopathy, splenomegaly, lymphocytic infiltrations, elevated immunoglobulin levels, autoantibodies, impaired clonal deletion of T cells, and lupus-like disease. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fas||
(F):5'- AGCAATGGTAGGTAGTATCTGGC -3'
(R):5'- TGGTGCCAACTGAGCAAAAG -3'
(F):5'- AAGTACACTGCAGCTGTCTTCAG -3'
(R):5'- CCAACTGAGCAAAAGGAGGAC -3'