|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 #||R2150 (G1)|
|Chromosomal Location||101525026-101532820 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 101529584 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 312 (E312G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023720 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023720]|
|Predicted Effect||possibly damaging
AA Change: E312G
PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: E312G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.268|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
|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'- CCACAGATGATGGGAGTTCATTG -3'
(R):5'- TAGGAACTGATGGACCCTCC -3'
(F):5'- CTTAATATGGCTGTGGAGACGCC -3'
(R):5'- GGAACTGATGGACCCTCCTGTATATC -3'