|Institutional Source||Beutler Lab|
|Gene Name||ring finger protein 217|
|Is this an essential gene?||Probably non essential (E-score: 0.126)|
|Stock #||R0825 (G1)|
|Chromosomal Location||31493193-31609184 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 31517457 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 376 (D376G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080650 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081989]|
|Predicted Effect||probably damaging
AA Change: D376G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D376G
|Meta Mutation Damage Score||0.2647|
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
|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'- CATGCTACATGTCCATGCCGTGAA -3'
(R):5'- TGCCTGAGTAGTCTCTGACAACAAACT -3'
(F):5'- ATGTCCATGCCGTGAATACTG -3'
(R):5'- agttcctacccttatttcccttc -3'