Krt78 - SNV Details



 Gene Information 
Gene Name Krt78
Old Gene Names for Krt78 2310030b04rik
Gene Description keratin 78 [Source:MGI Symbol;Acc:MGI:1917529]
Uniprot Name
CCDS Name
Gene GO
intermediate filament; extracellular vesicular exosome; structural molecule activity; biological_process; keratin filament; extracellular space; molecular_function
Homolog in other species KRT78
Omim http://omim.org/entry/611159
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000050463
Chromosome 15
Coordinate 101,953,986     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 12
Allele Frequency
A:R0.42
G:V0.58
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL03410
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved