Chd6 - SNV Details



 Gene Information 
Gene Name Chd6
Old Gene Names for Chd6 5430439g14rik , 6330406j24rik
Gene Description chromodomain helicase DNA binding protein 6 [Source:MGI Symbol;Acc:MGI:1918639]
MGI phenotype Homozygous null mice display impaired coordination that is not due to muscle weakness or bradykinesia.
Uniprot Name
CCDS Name
Gene GO
hydrolase activity
acting on acid anhydrides; helicase activity; chromatin binding; hydrolase activity; ATP-dependent helicase activity; DNA binding; protein binding; nucleus; nucleic acid binding; ATP binding
Homolog in other species CHD6
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000057133
Chromosome 2
Coordinate 160,961,927     (Assembly: GRCm38)    
Ref Base C
Codon Change cGg/cAg
Var Base T
Zygosity Heterozygous
Read Depth 11
Allele Frequency
C:R0.64
T:V0.36
Amino Acid Position 2071
Amino Acid Change R->Q (Arginine -> Glutamine)
Sample ID IGL01104
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.27
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved