Rad21 - SNV Details



 Human Rare Diseases 
Cornelia de Lange syndrome

 Gene Information 
Gene Name Rad21
Gene Description RAD21 homolog (S. pombe) [Source:MGI Symbol;Acc:MGI:108016]
MGI phenotype Mice homozygous for a targeted allele exhibit prenatal lethality, reduced male fertility, and produce oocytes that fail to maintain sister chromatids in the first mitosis following fertilization.
Uniprot Name
CCDS Name
Gene GO
nuclear chromosome
nucleus
protein binding
protein localization to chromatin
regulation of gene-specific transcription from RNA polymerase II promoter
Homolog in other species RAD21
Omim http://omim.org/entry/606462
Immgen Expression
HIGH(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, TGD GROUP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022314
Chromosome 15
Coordinate 51,976,125     (Assembly: GRCm38)    
Ref Base A
Codon Change gaT/gaA
Var Base T
Zygosity Heterozygous
Read Depth 12
Allele Frequency
A:0.42
T:0.58
Amino Acid Position 116
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL00799
Median Base Quality 34.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 20 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved