Mkx - SNV Details



 Gene Information 
Gene Name Mkx
Old Gene Names for Mkx Irxl1 , 9430023b20rik
Gene Description mohawk homeobox [Source:MGI Symbol;Acc:MGI:2687286]
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; tendon cell differentiation; muscle organ development; transcription from RNA polymerase II promoter; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription; regulation of transcription
DNA-templated; positive regulation of transcription from RNA polymerase II promoter; positive regulation of collagen biosynthetic process; RNA polymerase II core promoter proximal region sequence-specific DNA binding; sequence-specific DNA binding RNA polymerase II transcription factor activity; DNA binding; collagen fibril organization; sequence-specific DNA binding transcription factor activity; transcription factor complex; regulation of gene expression; RNA polymerase II transcription factor binding; negative regulation of myoblast differentiation; protein binding; nucleus; tendon sheath development; tendon formation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of gene expression; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
Homolog in other species MKX
Omim http://omim.org/entry/601332
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000061013
Chromosome 18
Coordinate 7,000,640     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 36
Allele Frequency
T:R0.44
C:V0.56
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02676
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved