|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor (ligand) superfamily, member 14|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R2108 (G1)|
|Chromosomal Location||57189492-57194189 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 57190867 bp|
|Amino Acid Change||Arginine to Tryptophan at position 122 (R122W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005976 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005976]|
|Predicted Effect||probably damaging
AA Change: R122W
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R122W
|Meta Mutation Damage Score||0.3564|
|Coding Region Coverage||
|MGI Phenotype||Strain: 2668383; 2671122; 2180198
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 tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene leads to selective impairment of CD8+ T cell function. Mice homozygous for a knock-out allele exhibit defects in CD8+ T cell-mediated allogenic responses. Mice homozygous for a different knock-out allele show increased resistance to experimentally-induced hepatitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tnfsf14||
(F):5'- CCAGCAGTTCTAACTCCTTCGG -3'
(R):5'- CCCCTGCAAGATAGGAATGG -3'
(F):5'- AGTTCTAACTCCTTCGGGTAGCG -3'
(R):5'- CAGCCTACTATGGTGGTGAAACC -3'