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|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor (ligand) superfamily, member 11|
|Synonyms||OPGL, Ly109l, RANKL, ODF, Trance, OPGL, osteoclast differentiation factor|
|Is this an essential gene?||Possibly non essential (E-score: 0.490)|
|Stock #||R2430 (G1)|
|Chromosomal Location||78277445-78308043 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 78284312 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 152 (D152E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022592 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022592]|
|Predicted Effect||probably benign
AA Change: D152E
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: D152E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a failure of tooth eruption, osteopetrosis, failure to lactate and arrested alveolar bud differentiation during pregnancy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tnfsf11||
(F):5'- GGCAAGGTAGGGTTCAACTG -3'
(R):5'- CCCGCTGCTTTACACAAAG -3'
(F):5'- AGGGTTCAACTGAAGGGTTTACC -3'
(R):5'- CGCTGCTTTACACAAAGAATGAG -3'