|Institutional Source||Beutler Lab|
|Gene Name||keratin 16|
|Is this an essential gene?||Probably non essential (E-score: 0.089)|
|Stock #||R5723 (G1)|
|Chromosomal Location||100246091-100248902 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 100248446 bp|
|Amino Acid Change||Tyrosine to Histidine at position 149 (Y149H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000007280 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007280]|
|Predicted Effect||probably damaging
AA Change: Y149H
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: Y149H
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.154|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
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. The encoded protein is a cytokeratin and acts as an innate immune system effector, promoting the inflammatory response upon breach of the skin barrier. Defects in this gene are a cause of pachyonychia congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt16||
(F):5'- CCCTGCTCTGGATAAGTATGACC -3'
(R):5'- CAGCAGTTTTGGTGGAGGAC -3'
(F):5'- GCTCTGGATAAGTATGACCATTAACC -3'
(R):5'- CAGTTTTGGTGGAGGACTTGGTAG -3'