|Institutional Source||Beutler Lab|
|Gene Name||v-rel reticuloendotheliosis viral oncogene homolog A (avian)|
|Synonyms||p65, p65 NF kappaB|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1597 (G1)|
|Chromosomal Location||5637483-5648130 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 5645331 bp|
|Amino Acid Change||Arginine to Histidine at position 295 (R295H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025867 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025867]|
|Predicted Effect||probably damaging
AA Change: R295H
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: R295H
|Meta Mutation Damage Score||0.1837|
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice are embryonic lethal due to hepatic apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rela||
(F):5'- ACAGACCCTTCTCTGAAGGTCACAC -3'
(R):5'- TTGAGTTTCGGGTAGGCACAGC -3'
(F):5'- AAGGTCACACATCCCTTCTTAACTG -3'
(R):5'- TTCGGGTAGGCACAGCAATAC -3'