|Institutional Source||Beutler Lab|
|Gene Name||keratin 13|
|Synonyms||K13, Krt-1.13, Krt1-13|
|Essential gene?||Probably non essential (E-score: 0.116)|
|Stock #||R9611 (G1)|
|Chromosomal Location||100117327-100121566 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 100121492 bp (GRCm38)|
|Amino Acid Change||Serine to Glycine at position 2 (S2G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000007275 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007275]|
AA Change: S2G
PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: S2G
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt13||
(F):5'- TTCTCGTTGCCAGAGAGGAG -3'
(R):5'- TAACTGGGCTTGTGGGAAAG -3'
(F):5'- CAGAGAGGAGGCCACCATC -3'
(R):5'- GGAGGAACAGCTGGCATC -3'