|Institutional Source||Beutler Lab|
|Gene Name||ring finger protein 7|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4397 (G1)|
|Chromosomal Location||96470937-96478675 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 96478410 bp (GRCm38)|
|Amino Acid Change||Methionine to Threonine at position 58 (M58T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052856 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057500] [ENSMUST00000071301]|
AA Change: M58T
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: M58T
|Meta Mutation Damage Score||0.1663|
|Coding Region Coverage||
|Validation Efficiency||96% (55/57)|
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'- TCAGATCTACGCGAGGGATC -3'
(R):5'- ATCCAATCATCGCCGTCTG -3'
(F):5'- CCGCTGGGAGATTTGCTG -3'
(R):5'- TGAGCCACCGTACCTCC -3'