Krt14 - SNV Details

 Human Rare Diseases 
Epidermolysis bullosa simplex with mottled pigmentation
Autosomal recessive epidermolysis bullosa simplex
Epidermolysis bullosa simplex, Dowling-Meara type
Localized epidermolysis bullosa simplex
Non-Dowling-Meara generalized epidermolysis bullosa simplex
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis

 Gene Information 
Gene Name Krt14
Old Gene Names for Krt14 Krt-1.14 , Krt1-14 , Ai626930
Gene Description keratin 14 [Source:MGI Symbol;Acc:MGI:96688]
MGI phenotype Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur.
Uniprot Name
Gene GO
mitochondrion; response to ionizing radiation; response to zinc ion; cytoplasm; intracellular; intermediate filament bundle assembly; protein binding; nucleus; structural molecule activity; keratin filament; cell periphery; epithelial cell differentiation
Homolog in other species KRT14
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000045545
Chromosome 11
Coordinate 100,204,416     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 39
Allele Frequency
Amino Acid Change Disrupted splicing
Splice Position 8
Sample ID IGL01759
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 63 Other Mutations


 Availability Details 
Availability Cryopreserved