|Institutional Source||Beutler Lab|
|Gene Name||keratin 17|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1510 (G1)|
|Chromosomal Location||100256217-100261029 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 100257539 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 359 (E359K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079699 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080893]|
|Predicted Effect||possibly damaging
AA Change: E359K
PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: E359K
|Meta Mutation Damage Score||0.196|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: The protein encoded by this gene is a member of the type I 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 required for the normal growth of hair follicles and may act in psoriasis as an immunopathogenic autoantigen. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display age- and strain-dependent alopecia associated with frequent absence of vibrissae, increased hair fragility, abnormal hair cycling, altered hair follicle morphology, and apoptosis in matrix cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt17||
(F):5'- AATCTGCTAGGCGATTCCTGCCAC -3'
(R):5'- GAGTCAGCTTTGCCACTCTCACTG -3'
(F):5'- GATTCCTGCCACATGCATC -3'
(R):5'- ACTCTCACTGACTACCACCTG -3'