|Institutional Source||Beutler Lab|
|Gene Name||Fas (TNFRSF6)-associated via death domain|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7180 (G1)|
|Chromosomal Location||144577318-144582463 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 144580785 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 121 (V121E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033394 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033394]|
|Predicted Effect||probably damaging
AA Change: V121E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V121E
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
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'- AGTTGAATCCCTTAGTACTGGGG -3'
(R):5'- TTGTCTTCGAAGTGCTCAGGC -3'
(F):5'- AGTACTGGGGACATATTCTCACTC -3'
(R):5'- TTCGAAGTGCTCAGGCCCATG -3'