|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: 0.153)|
|Stock #||R7225 (G1)|
|Chromosomal Location||161395409-161418410 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 161417250 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 170 (D170G)|
|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: D170G
PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: D170G
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
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'- ATCAAGTGCGATGGGCTTTATATC -3'
(R):5'- AGGGTAGGCTCTGCATTCAG -3'
(F):5'- GGCTTTATATCATCTACCTGAAGGGC -3'
(R):5'- TCAGTCACATCTCATGAGCAGGATG -3'