|Institutional Source||Beutler Lab|
|Gene Name||keratin 72|
|Is this an essential gene?||Probably non essential (E-score: 0.090)|
|Stock #||R0669 (G1)|
|Chromosomal Location||101776172-101786460 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 101778305 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 402 (E402G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065922 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071104]|
|Predicted Effect||probably damaging
AA Change: E402G
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: E402G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.36|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt72||
(F):5'- AGAGCCAAACTGTCTTCCACCTTCC -3'
(R):5'- CAGTTCTGTCCAACCTGGACCATC -3'
(F):5'- TTCCTGTTAAAGCAAACACCG -3'
(R):5'- TGGACCATCCAGTAGATCCTG -3'