|Institutional Source||Beutler Lab|
|Gene Name||ring finger protein 213|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8937 (G1)|
|Chromosomal Location||119393100-119487418 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 119430274 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 1185 (H1185L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000115063 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000093902] [ENSMUST00000131035]|
|AlphaFold||no structure available at present|
AA Change: H1186L
AA Change: H1185L
PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: H1185L
|Coding Region Coverage||
|Validation Efficiency||95% (71/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and circulating glucose level but normal glucose tolerance, insulin sensitivity, insulin plasma levels and leptin plasma levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rnf213||
(F):5'- TTTCCCCTACACTAAGGAGGAG -3'
(R):5'- GGTTGTACAGGTATTCCAAGACC -3'
(F):5'- AGGCCTTTAATCCCAGCACGG -3'
(R):5'- GGTATTCCAAGACCTCTGGAAGC -3'