Zc3h14 - SNV Details



 Human Rare Diseases 
Autosomal recessive nonsyndromic intellectual deficit

 Gene Information 
Gene Name Zc3h14
Old Gene Names for Zc3h14 1010001p15rik , 1700016a15rik , 2700069a02rik , Au014748
Gene Description zinc finger CCCH type containing 14 [Source:MGI Symbol;Acc:MGI:1919824]
Uniprot Name
CCDS Name
Gene GO
RNA binding; cytoplasm; metal ion binding; poly(A) RNA binding; protein binding; nuclear speck; nucleus; biological_process; nucleolus
Homolog in other species ZC3H14
Omim http://omim.org/entry/613279
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021012
Chromosome 12
Coordinate 98,784,975     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 35
Allele Frequency
A:R0.37
T:V0.63
Amino Acid Change Y->F (Tyrosine -> Phenylalanine)
Sample ID IGL02744
Median Base Quality 41
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.92
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved