|Institutional Source||Beutler Lab|
|Gene Name||keratin 27|
|Is this an essential gene?||Probably non essential (E-score: 0.122)|
|Stock #||R7044 (G1)|
|Chromosomal Location||99345565-99351104 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 99346814 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 366 (N366I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000017732 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000017732]|
|Predicted Effect||probably benign
AA Change: N366I
PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: N366I
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: 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 mouse type I keratin genes are clustered in a region of chromosome 11. The encoded protein is involved in the formation of intermediate filaments in the inner root sheath. [provided by RefSeq, Sep 2015]
PHENOTYPE: Newborn heterozygotes show a slight bending of the whiskers. At ~P12, the coat develops a loose wave pattern. Whiskers of homozygotes are more curly and irregular while coat waviness occurs earlier and is more prominent. Adult coats are not waved but remains rough in texture. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt27||
(F):5'- CTGCTGAAGTAACACTGGGG -3'
(R):5'- GGCTTGGCTTATTCTGAATCAGTAC -3'
(F):5'- CTGGGGAGAGAGGTTCCATTCAC -3'
(R):5'- GCTTATTCTGAATCAGTACAGTAACG -3'