Krt86 - SNV Details



 Human Rare Diseases 
Monilethrix

 Gene Information 
Gene Name Krt86
Gene Description keratin 86 [Source:MGI Symbol;Acc:MGI:109362]
Uniprot Name
CCDS Name
Gene GO
keratin filament
structural molecule activity
Homolog in other species KRT86
Omim http://omim.org/entry/601928
Immgen Expression
MEDIAN(HIGH IN GN.BM)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000067614
Chromosome 15
Coordinate 101,473,860     (Assembly: GRCm38)    
Ref Base C
Codon Change Cat/Tat
Var Base T
Zygosity Heterozygous
Read Depth 18
Allele Frequency
C:0.44
T:0.56
Amino Acid Position 104
Amino Acid Change H->Y (Histidine -> Tyrosine)
Sample ID IGL00857
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.11
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved