Eml6 - SNV Details



 Gene Information 
Gene Name Eml6
Old Gene Names for Eml6 2900083p10rik , C230094a16rik
Gene Description echinoderm microtubule associated protein like 6 [Source:MGI Symbol;Acc:MGI:2442895]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; microtubule; protein binding; cellular_component; biological_process; molecular_function
Homolog in other species EML6
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000044072
Chromosome 11
Coordinate 29,755,021     (Assembly: GRCm38)    
Ref Base G
Codon Change Cga/Tga
Var Base A
Zygosity Heterozygous
Read Depth 49
Allele Frequency
G:R0.47
A:V0.53
Amino Acid Position 1508
Amino Acid Change R->Stop (Arginine -> Stop)
Sample ID IGL01407
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Protein domains 
ENSMUSP00000051080:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
WD40 repeat WD40_repeat IPR001680 ENSMUSP00000051080 Smart 1495
1534 Description available Search pathways
WD40-repeat-containing domain WD40_repeat_dom IPR017986 ENSMUSP00000051080 Superfamily 1226
1669 Description available Search pathways
WD40-repeat-containing domain WD40_repeat_dom IPR017986 ENSMUSP00000051080 Prosite_profiles 1442
1543 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved