|Institutional Source||Beutler Lab|
|Gene Name||keratin 8|
|Synonyms||Krt-2.8, Krt2-8, cytokeratin 8, cytokeratin8, K8, EndoA, cytokeratin-8, Card2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0531 (G1)|
|Chromosomal Location||101996698-102004482 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 102001448 bp|
|Amino Acid Change||Methionine to Leucine at position 174 (M174L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023952 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023952]|
|Predicted Effect||probably benign
AA Change: M174L
PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: M174L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1040|
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt8||
(F):5'- ACCCAACCTTATGCTCAGCCAGTG -3'
(R):5'- TCCTGGAGCAGCAGAACAAGATGC -3'
(F):5'- caatcctcctgcctctgtc -3'
(R):5'- CTGGAGACCAAGTGGAGCC -3'