|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: 0.114)|
|Stock #||R4506 (G1)|
|Chromosomal Location||161395409-161418410 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 161417174 bp|
|Amino Acid Change||Serine to Proline at position 145 (S145P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028024 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028024]|
|Predicted Effect||probably damaging
AA Change: S145P
PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: S145P
|Meta Mutation Damage Score||0.2391|
|Coding Region Coverage||
|Validation Efficiency||98% (42/43)|
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'- ATGGGCAACTATTCATCAGCTC -3'
(R):5'- CCACCCTCAGAGTGGAATTCAC -3'
(F):5'- TGAGTATCAAACTATGGAGGTGC -3'
(R):5'- CACAGTGGTACTTGGTTCACAG -3'