Mkln1 - SNV Details



 Gene Information 
Gene Name Mkln1
Old Gene Names for Mkln1 Bb154892 , A130067f06rik , Au015903
Gene Description muskelin 1, intracellular mediator containing kelch motifs [Source:MGI Symbol;Acc:MGI:1351638]
MGI phenotype Mice homozygous for a gene trap allele exhibit abnormal high-frequency ripple oscillation associated with GABA receptor internalization, intracellular trafficking, and degradation.
Uniprot Name
CCDS Name
Gene GO
cytoplasm; cell adhesion; protein binding
Homolog in other species MKLN1
Omim http://omim.org/entry/605623
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000025609
Chromosome 6
Coordinate 31,492,791     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 15
Allele Frequency
A:R0.53
G:V0.47
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL02160
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 67 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved