|Institutional Source||Beutler Lab|
|Gene Name||keratin 25|
|Is this an essential gene?||Probably non essential (E-score: 0.130)|
|Stock #||R6250 (G1)|
|Chromosomal Location||99315516-99322951 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 99321163 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 216 (N216I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048439 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038004]|
|Predicted Effect||probably damaging
AA Change: N216I
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: N216I
|Meta Mutation Damage Score||0.5688|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mutations in this gene have a defect in hair formation resulting in a wavy coat and curly vibrissae. Some alleles may compromise normal growth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt25||
(F):5'- TGGAAAGCCATGATTCTCACC -3'
(R):5'- TCTCCAACCAGGTGACAAACTG -3'
(F):5'- AAGCCATGATTCTCACCCCCTC -3'
(R):5'- GGAAAATCCCCTGACACTTTTG -3'