Etl4 - SNV Details



 Gene Information 
Gene Name Etl4
Old Gene Names for Etl4 Bc026657 , Etl-4 , 6620402g01rik , 9430077c05rik , E330027g05rik
Gene Description enhancer trap locus 4 [Source:MGI Symbol;Acc:MGI:95454]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; embryonic skeletal system development; molecular_function
Homolog in other species KIAA1217
Omim http://omim.org/entry/611631
Immgen Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036617
Chromosome 2
Coordinate 20,530,189     (Assembly: GRCm38)    
Ref Base T
Codon Change Tac/Cac
Var Base C
Zygosity Heterozygous
Read Depth 33
Allele Frequency
T:R0.36
C:V0.64
Amino Acid Position 152
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL02369
Median Base Quality 34
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved , Line Propagating