|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor (ligand) superfamily, member 4|
|Synonyms||Ath-1, CD134L, OX40L, Txgp1l, Ath1, TXGP1, gp34|
|Is this an essential gene?||Probably non essential (E-score: 0.081)|
|Stock #||R6931 (G1)|
|Chromosomal Location||161395409-161418410 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 161417073 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Tyrosine at position 111 (F111Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028024 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028024]|
The X-ray crystal structure of murine OX40L [X-RAY DIFFRACTION]
Crystal structure of murine OX40L bound to human OX40 [X-RAY DIFFRACTION]
AA Change: F111Y
PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: F111Y
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous inactivation of this gene leads to an impaired contact hypersensitivity response due to defects in T cell priming and cytokine production. Homozygosity for a null allele confers resistance to autoimmune diabetes development in nonobese diabetic mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tnfsf4||
(F):5'- TCTGTTCTAGCCACACTGGAG -3'
(R):5'- TTAGCTGGACAACAATCAGCTC -3'
(F):5'- AGCCACACTGGAGGGTTCTTATC -3'
(R):5'- AGCTCCCCATCATTTATCTGGAGG -3'