|Institutional Source||Beutler Lab|
|Gene Name||keratin 19|
|Synonyms||K19, EndoC, cytokeratin-19, cytokeratin19, Krt-1.19, Krt1-19, cytokeratin 19|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7764 (G1)|
|Chromosomal Location||100140810-100148665 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 100141392 bp|
|Amino Acid Change||Asparagine to Serine at position 282 (N282S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000007317 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007317]|
|Predicted Effect||probably benign
AA Change: N282S
PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: N282S
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-in allele are viable. Mice homozygous for a reporter allele show partial and strain-dependent preweaning lethality but no anatomical or behavioral defects. Mice that are either homozygous or heterozygous for a targeted insertion into intron 6 exhibit sperm tail defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt19||
(F):5'- AGAGGCAGGTTCCTGAACAC -3'
(R):5'- CCAAGATCCTGAGTGAGATGAG -3'
(F):5'- TTCCTGAACACGGGCACAG -3'
(R):5'- GTCAGTATGAGATCATGGCCG -3'