|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor (ligand) superfamily, member 10|
|Synonyms||A330042I21Rik, Trail, APO-2L|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4679 (G1)|
|Chromosomal Location||27317028-27342427 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 27335579 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 263 (N263I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040271 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046383] [ENSMUST00000174840]|
|Predicted Effect||probably damaging
AA Change: N263I
PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: N263I
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.7838|
|Coding Region Coverage||
|Validation Efficiency||98% (112/114)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygotes for a null allele show thymus hyperplasia, abnormal negative T cell selection, increased susceptibility to autoimmune diseases and to tumor initiation and metastasis, and resistance to induced hepatitis. Homozygotes for another null allele are unable to control A20 lymphoma progression. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tnfsf10||
(F):5'- TCCGATTTCAGGAAGCTGAAG -3'
(R):5'- TCTACAGCCAGGCCATATCC -3'
(F):5'- TGAAGACGCTTCCAAGATGGTCTC -3'
(R):5'- GGCCATATCCTAACCAGTTCAGTCG -3'