|Institutional Source||Beutler Lab|
|Gene Name||keratin 18|
|Synonyms||Endo B, K18, CK18, Krt1-18|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0077 (G1)|
|Chromosomal Location||102028180-102032027 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 102030974 bp|
|Amino Acid Change||Arginine to Leucine at position 294 (R294L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023803 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023803]|
|Predicted Effect||probably benign
AA Change: R294L
PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
AA Change: R294L
|Meta Mutation Damage Score||0.262|
|Coding Region Coverage||
|Validation Efficiency||83% (159/192)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are viable, fertile, and live normal life spans. They do, however, develop hepatomegaly by 18 months of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Krt18||
(F):5'- CCACTCCGCTTAAGGTAAGCTCTG -3'
(R):5'- CCGAGGCTGTTCTCCAAGTTGATG -3'
(F):5'- CTTAAGGTAAGCTCTGTGTGAAG -3'
(R):5'- GAGAGTGAGTCTCTACTCTTAGCC -3'