|Institutional Source||Beutler Lab|
|Gene Name||keratin 81|
|Is this an essential gene?||Probably non essential (E-score: 0.084)|
|Stock #||R7055 (G1)|
|Chromosomal Location||101459061-101463751 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 101461125 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 249 (I249F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056525 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061185]|
|Predicted Effect||probably benign
AA Change: I249F
PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: I249F
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt81||
(F):5'- CCACTGTCTCATCTAAGGACAG -3'
(R):5'- ACCGACTTCCTGAGGAGAATG -3'
(F):5'- GACAGATGTCCTGGCCTCTCAC -3'
(R):5'- CCGACTTCCTGAGGAGAATGTATGAC -3'