|Institutional Source||Beutler Lab|
|Gene Name||keratin 7|
|Synonyms||Cytokeratin 7, D15Wsu77e, Krt2-7, K7|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7844 (G1)|
|Chromosomal Location||101411043-101430313 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 101412634 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 54 (G54D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069900 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068904] [ENSMUST00000147662]|
|Predicted Effect||possibly damaging
AA Change: G54D
PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: G54D
|Predicted Effect||probably benign
|Coding Region Coverage||
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. The type II cytokeratins 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 type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cell proliferation of urothelial cells without histological evidence of hyperplasia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt7||
(F):5'- CAGCCGCTATGTCCATCCAC -3'
(R):5'- GGAGAAGTACTATACAGAGCCCAC -3'
(F):5'- GCTATGTCCATCCACTTCAGC -3'
(R):5'- CGTGGCCGGAAAGAACC -3'