|Institutional Source||Beutler Lab|
|Gene Name||ring finger protein 217|
|Is this an essential gene?||Probably non essential (E-score: 0.124)|
|Stock #||R0582 (G1)|
|Chromosomal Location||31493193-31609184 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 31608767 bp|
|Amino Acid Change||Tyrosine to Histidine at position 140 (Y140H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080650 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081989]|
|Predicted Effect||possibly damaging
AA Change: Y140H
PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: Y140H
|Meta Mutation Damage Score||0.0799|
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rnf217||
(F):5'- GTAGAACTCCAGCTCGATGCTGCC -3'
(R):5'- TGTCCAGGAGCCTGCGAGCAAC -3'
(F):5'- AATCGGCCCCAGCGGTGCTTGA -3'
(R):5'- TCTGGAACTGCAGCTGGAG -3'