|Institutional Source||Beutler Lab|
|Gene Name||reticuloendotheliosis oncogene|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1312 (G1)|
|Chromosomal Location||23736847-23770970 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 23757010 bp|
|Amino Acid Change||Threonine to Isoleucine at position 64 (T64I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099928 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102864]|
|Predicted Effect||probably damaging
AA Change: T64I
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: T64I
|Meta Mutation Damage Score||0.7378|
|Coding Region Coverage||
|Validation Efficiency||98% (41/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous inactivation of this gene causes defects in lymphocyte proliferation, humoral immunity and cytokine production, and may lead to impaired Th1 responses and resistance to autoimmune disease. Mice lacking only the COOH-terminal region show severehemopoietic defects and lymphoid hyperplasia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rel||
(F):5'- TCCTCCCCACAGGTAACAAAGTGT -3'
(R):5'- caccataatgcctggcCTGCTTA -3'
(F):5'- AACAAAGGTCTGCGTTCTGG -3'
(R):5'- aggggcattattgtaggtagc -3'