|Institutional Source||Beutler Lab|
|Gene Name||keratin 17|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4235 (G1)|
|Chromosomal Location||100256217-100261029 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 100257868 bp|
|Amino Acid Change||Threonine to Alanine at position 279 (T279A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079699 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080893]|
|Predicted Effect||possibly damaging
AA Change: T279A
PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: T279A
|Meta Mutation Damage Score||0.1574|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
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'- TCCAGAGATGCTTTCTGCGG -3'
(R):5'- TTTCAAGCCTTGGGGAAGTAG -3'
(F):5'- AGTGGCAAAGCTGACTCC -3'
(R):5'- CCTTGGGGAAGTAGGGAGCTTG -3'