|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: 0.230)|
|Stock #||R1500 (G1)|
|Chromosomal Location||101525026-101532820 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 101530224 bp|
|Amino Acid Change||Valine to Alanine at position 276 (V276A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023720 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023720]|
|Predicted Effect||probably damaging
AA Change: V276A
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: V276A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.102|
|Coding Region Coverage||
|Validation Efficiency||95% (81/85)|
|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'- ACTGCAATGTAGAAGCTCACACAGG -3'
(R):5'- CGAGTGGCAATAGAGAACCAAGTCC -3'
(F):5'- tgccatcaagcctgaagac -3'
(R):5'- CTTCAACAAACCTGGTTTAGGAGC -3'