Krt14 - SNV Details



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

 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
CCDS 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
Omim http://omim.org/entry/148066
Immgen Expression
LOW(HIGH IN DC.LC.SK)
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
A:R0.49
T:V0.51
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

 Predictions 

 Availability Details 
Availability Cryopreserved