|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor receptor superfamily, member 17|
|Synonyms||BCM, Tnfrsf13a, Tnfrsf13|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0764 (G1)|
|Chromosomal Location||11313812-11320074 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 11315199 bp|
|Amino Acid Change||Threonine to Methionine at position 47 (T47M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023140 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023140]|
|Predicted Effect||possibly damaging
AA Change: T47M
PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: T47M
|Meta Mutation Damage Score||0.1129|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted null mutations in this gene are viable and fertile with no apparent defects in immune system development or function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tnfrsf17||
(F):5'- GGACCACATTGTGAACTTCAGGGC -3'
(R):5'- TTCCAAGACTCACCGTCAAGCTG -3'
(F):5'- ggttcggtccccagcag -3'
(R):5'- TCACCGTCAAGCTGACCTG -3'