|Institutional Source||Beutler Lab|
|Gene Name||ring finger protein 7|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6013 (G1)|
|Chromosomal Location||96470937-96478675 bp(-) (GRCm38)|
|Type of Mutation||makesense|
|DNA Base Change (assembly)||T to C at 96471734 bp|
|Amino Acid Change||Stop codon to Tryptophan at position 114 (*114W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052856 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057500] [ENSMUST00000071301]|
|Predicted Effect||probably null
AA Change: *114W
AA Change: *114W
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.8901|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display complete embryonic lethality during organogenesis with defects in angiogenesis, widespread apoptosis, impaired cell cycle progression of neuronal precursors and embryonic growth retardation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rnf7||
(F):5'- ACAATGTTCCCACAGTCGTG -3'
(R):5'- ACAAGTGGCTTGGGTCTGAG -3'
(F):5'- AAAGATCATTTTCTGGTGTTCTCGC -3'
(R):5'- GGGTCTGAGCCCCTCCC -3'