|Institutional Source||Beutler Lab|
|Gene Name||Fas-associated factor 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R9028 (G1)|
|Chromosomal Location||109676588-109963960 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 109890908 bp (GRCm38)|
|Amino Acid Change||Threonine to Lysine at position 470 (T470K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099785 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102724]|
AA Change: T470K
PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: T470K
|Meta Mutation Damage Score||0.2958|
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous fail to develop beyond 2-cell stage. Mice homozygous for a hypomorphic gene trap allele exhibit decreased susceptibility to dopaminergic neuron neurotoxicity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Faf1||
(F):5'- AACCTCATGACTTGGACATTCTTC -3'
(R):5'- ACATCCTTACCTATCAGTCACG -3'
(F):5'- ATGACTTGGACATTCTTCTTTCTGG -3'
(R):5'- GAAACAGTCACTCATCACCATTGG -3'