|Institutional Source||Beutler Lab|
|Gene Name||keratin 4|
|Synonyms||Krt-2.4, K4, Krt2-4|
|Is this an essential gene?||Possibly non essential (E-score: 0.253)|
|Stock #||R7371 (G1)|
|Chromosomal Location||101918535-101924735 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 101920388 bp|
|Amino Acid Change||Glutamine to Leucine at position 347 (Q347L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023797 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023797]|
|Predicted Effect||probably damaging
AA Change: Q347L
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: Q347L
|Coding Region Coverage||
|Validation Efficiency||98% (88/90)|
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 differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display hyperplasia throughout the epithelium of the esophagus and tongue. Mice homozygous or heterozygous for a dominant mutation display oral leukoplakia and homozygotes display postnatal growth retardation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt4||
(F):5'- AACAAGACATGCTGTGCAATCAG -3'
(R):5'- GGTACCAGATCAAGGTAGGC -3'
(F):5'- TCAGTATCATGATATACAGAGGCCC -3'
(R):5'- CATGTGAGATGAGTCCCTCCTCAAG -3'