|Institutional Source||Beutler Lab|
|Gene Name||keratin 17|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4029 (G1)|
|Chromosomal Location||100256217-100261029 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 100257523 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 364 (N364I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079699 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080893]|
|Predicted Effect||probably damaging
AA Change: N364I
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N364I
|Meta Mutation Damage Score||0.3139|
|Coding Region Coverage||
|Validation Efficiency||100% (31/31)|
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'- GCTTGTACTGAGTCAGGCTG -3'
(R):5'- TGTTATGCACCCAGGGATGG -3'
(F):5'- TACTCACTGGGCATCCT -3'
(R):5'- CTAACACCTGGGAGTCAGCTTTG -3'