|Institutional Source||Beutler Lab|
|Gene Name||Fas (TNFRSF6)-associated via death domain|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4110 (G1)|
|Chromosomal Location||144577318-144582463 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 144580751 bp|
|Amino Acid Change||Lysine to Asparagine at position 132 (K132N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033394 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033394]|
|Predicted Effect||possibly damaging
AA Change: K132N
PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: K132N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.108|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality associated with abnormal embryogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fadd||
(F):5'- GTTGAATCCCTTAGTACTGGGG -3'
(R):5'- TTGTCTTCGAAGTGCTCAGG -3'
(F):5'- AGTACTGGGGACATATTCTCACTC -3'
(R):5'- TTCGAAGTGCTCAGGCCCATG -3'