Rcbtb1 - SNV Details



 Gene Information 
Gene Name Rcbtb1
Old Gene Names for Rcbtb1 5430409i18rik , Aw111883
Gene Description regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 [Source:MGI Symbol;Acc:MGI:1918580]
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; cytoplasm; cell cycle; protein binding; nucleus; chromatin modification; regulation of transcription
DNA-dependent
Homolog in other species RCBTB1
Omim http://omim.org/entry/607867
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
Gnf Expression
LOW
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035469
Chromosome 14
Coordinate 59,229,994     (Assembly: GRCm38)    
Ref Base A
Codon Change tAc/tGc
Var Base G
Zygosity Heterozygous
Read Depth 26
Allele Frequency
A:R0.46
G:V0.54
Amino Acid Position 427
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL02458
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 69 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000037030:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
BTB/POZ-like BTB/POZ-like IPR000210 ENSMUSP00000037030 Smart 370
467 Description available Search pathways
BTB/POZ-like BTB/POZ-like IPR000210 ENSMUSP00000037030 Prosite_profiles 370
437 Description available Search pathways
BTB/POZ fold BTB/POZ_fold IPR011333 ENSMUSP00000037030 Superfamily 342
467 Description available Search pathways
BTB/POZ BTB_POZ IPR013069 ENSMUSP00000037030 Pfam 361
465 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved