|Institutional Source||Beutler Lab|
|Gene Name||Fas ligand (TNF superfamily, member 6)|
|Synonyms||APT1LG1, CD178, CD95L, Fas-L, Tnfsf6|
|Is this an essential gene?||Possibly non essential (E-score: 0.433)|
|Stock #||R7336 (G1)|
|Chromosomal Location||161780689-161788495 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 161787988 bp|
|Amino Acid Change||Tyrosine to Histidine at position 100 (Y100H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000834 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000834] [ENSMUST00000193648]|
|Predicted Effect||probably damaging
AA Change: Y100H
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: Y100H
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a spontaneous allele, knock-out allele, or allele producting only the soluble isoform exhibit premature death due to the development of systemic lupus erythematosus, autoimmune glomerulonephritis, hepatomegaly, lymphadenopathy, and hypergammaglobulinaemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fasl||
(F):5'- GGGATTGAAAAGATCCTTGCC -3'
(R):5'- CAGTGCCACTTCATCTTGGG -3'
(F):5'- AAAGATCCTTGCCTTTAAAAACAAC -3'
(R):5'- CCATCTTGTGGGCCTAGAGG -3'