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; zinc ion binding; protein binding; nuclear speck; nucleus; nucleic acid binding; biological_process; molecular_function
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 98,779,186     (Assembly: GRCm38)    
Ref Base T
Codon Change aTa/aGa
Var Base G
Zygosity Heterozygous
Read Depth 93
Allele Frequency
T:R0.47
G:V0.53
Amino Acid Position 478
Amino Acid Change I->R (Isoleucine -> Arginine)
Sample ID IGL01626
Median Base Quality 38
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.03
Polyphen Prediction Benign
Sift Score 0.07
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved