|Institutional Source||Beutler Lab|
|Gene Name||keratin 82|
|Is this an essential gene?||Probably non essential (E-score: 0.051)|
|Stock #||R1073 (G1)|
|Chromosomal Location||101541214-101550667 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 101550254 bp|
|Amino Acid Change||Aspartic acid to Valine at position 117 (D117V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023713 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023713] [ENSMUST00000023714]|
|Predicted Effect||probably damaging
AA Change: D117V
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: D117V
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0831|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
|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 keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt82||
(F):5'- TAAGAGGCCGATGGACAAATGCCC -3'
(R):5'- GTCACCCACTATGAAGTGAGCAAGG -3'
(F):5'- ATGGACAAATGCCCCTTCCTG -3'
(R):5'- TCTCGGAGCCTGTGCAAC -3'