|Institutional Source||Beutler Lab|
|Gene Name||keratin 84|
|Synonyms||Krt2-3, Krt2-16, HRb-1|
|Is this an essential gene?||Probably non essential (E-score: 0.140)|
|Stock #||R1647 (G1)|
|Chromosomal Location||101525026-101532820 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 101525963 bp|
|Amino Acid Change||Serine to Phenylalanine at position 523 (S523F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023720 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023720]|
|Predicted Effect||possibly damaging
AA Change: S523F
PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: S523F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||97% (70/72)|
|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 is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt84||
(F):5'- AGAATCCTTCAGGAGGACATGGGC -3'
(R):5'- ATGGGCATGAGCAAACACCCAG -3'
(F):5'- AAGAGTGGCTGGAGATCCCTC -3'
(R):5'- CAGGGATACTACAGCATCTGTC -3'