|Institutional Source||Beutler Lab|
|Gene Name||keratin 14|
|Synonyms||Krt1-14, K14, Cytokeratin 14, Krt-1.14, epidermolysis bullosa simplex, Dowling-Meara, Koebner|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8233 (G1)|
|Chromosomal Location||100203162-100207548 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 100203352 bp|
|Amino Acid Change||Valine to Alanine at position 472 (V472A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000007272 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007272]|
|Predicted Effect||probably damaging
AA Change: V472A
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: V472A
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt14||
(F):5'- GAGGCAGTGATTGTGCAACTC -3'
(R):5'- ACAGACTGGACTTGCAGCAG -3'
(F):5'- CAGTGATTGTGCAACTCAGAAAAAG -3'
(R):5'- TGGACTTGCAGCAGGGAGTG -3'