|Institutional Source||Beutler Lab|
|Gene Name||keratin 75|
|Synonyms||Krt2-6hf, 4732468K03Rik, K6hf, Krtcap1|
|Is this an essential gene?||Probably non essential (E-score: 0.102)|
|Stock #||R6835 (G1)|
|Chromosomal Location||101563345-101573904 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 101571037 bp|
|Amino Acid Change||Arginine to Glutamine at position 286 (R286Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036246 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042957]|
|Predicted Effect||probably benign
AA Change: R286Q
PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: R286Q
|Meta Mutation Damage Score||0.1148|
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-in mutation that results in the deletion of the highly conserved asparagine residue (N159) in the helix initiation peptide of this gene develop hair shaft and nail abnormalities resembling pachyonychia congenita. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt75||
(F):5'- TGTGCGTATGAGGAAAGGTC -3'
(R):5'- TAGTGACCACCTAGTCCAATCC -3'
(F):5'- CTGTTTCATGAATCAAAGTTCCCAGC -3'
(R):5'- ACCTAGTCCAATCCCCTGG -3'