|Institutional Source||Beutler Lab|
|Gene Name||claudin 8|
|Is this an essential gene?||Probably non essential (E-score: 0.218)|
|Stock #||R0038 (G1)|
|Chromosomal Location||88560828-88563183 bp(-) (GRCm38)|
|Type of Mutation||start codon destroyed|
|DNA Base Change (assembly)||A to G at 88563034 bp|
|Amino Acid Change||Methionine to Threonine at position 1 (M1T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051887 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049697]|
|Predicted Effect||probably null
AA Change: M1T
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: M1T
|Meta Mutation Damage Score||0.302|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
|MGI Phenotype||FUNCTION: This intronless gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a paracellular cation barrier. [provided by RefSeq, Aug 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cldn8||
(F):5'- GCTGTCATGAAAGCCAAGAAAGCC -3'
(R):5'- AGTTTACTGTTGGAGCCAAAGGGG -3'
(F):5'- AGTCGTAGACCTTGCACTG -3'
(R):5'- AAGAGGGGGTTGTGTCACC -3'