Rai1 - SNV Details



 Human Rare Diseases 
17p11.2 microduplication syndrome
Smith-Magenis syndrome

 Gene Information 
Gene Name Rai1
Gene Description retinoic acid induced 1 [Source:MGI Symbol;Acc:MGI:103291]
MGI phenotype Mice homozygous for disruptions of this gene usually die as embryos. Survivors have shortened life spans and show severe craniofacial and axial skeleton defects.
Uniprot Name
CCDS Name
Gene GO
positive regulation of transcription
DNA-templated; circadian regulation of gene expression; cytoplasm; zinc ion binding; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; skeletal system development; negative regulation of multicellular organism growth; enhancer binding
Homolog in other species RAI1
Omim http://omim.org/entry/607642
Immgen Expression
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
Gnf Expression
LOW/MEDIAN
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062115
Chromosome 11
Coordinate 60,185,733     (Assembly: GRCm38)    
Ref Base T
Codon Change Tcc/Ccc
Var Base C
Zygosity Heterozygous
Read Depth 76
Allele Frequency
T:R0.53
C:V0.47
Amino Acid Position 208
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02970
Median Base Quality 36.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.1
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved