Mbd5 - SNV Details



 Human Rare Diseases 
Autosomal dominant nonsyndromic intellectual deficit
2q23.1 microdeletion syndrome

 Gene Information 
Gene Name Mbd5
Old Gene Names for Mbd5 C030040a15rik , Ottmusg00000012483 , Ai426407 , 9430004d19rik , Aa536666
Gene Description methyl-CpG binding domain protein 5 [Source:MGI Symbol;Acc:MGI:2138934]
Uniprot Name
CCDS Name
Gene GO
chromatin binding; DNA binding; nucleus; cellular_component; biological_process; chromosome
Homolog in other species MBD5
Omim http://omim.org/entry/611472
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
HIGH
HIGH
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036792
Chromosome 2
Coordinate 49,278,939     (Assembly: GRCm38)    
Ref Base T
Codon Change gTg/gCg
Var Base C
Zygosity Heterozygous
Read Depth 38
Allele Frequency
T:R0.66
C:V0.34
Amino Acid Position 1374
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01481
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 0.74
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved