|Institutional Source||Beutler Lab|
|Gene Name||claudin 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5753 (G1)|
|Chromosomal Location||26356642-26371841 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 26363121 bp|
|Amino Acid Change||Valine to Leucine at position 113 (V113L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023154 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023154]|
|Predicted Effect||probably benign
AA Change: V113L
PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
AA Change: V113L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2208|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
FUNCTION: This 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 knockout mice lacking this gene die soon after birth as a consequence of dehydration from trandermal water loss, indicating that this gene is indispensable for creating and maintaining the epidermal barrier. The protein encoded by this gene also has gastric tumor suppressive activity, and is a key factor for hepatitis C virus (HCV) entry. [provided by RefSeq, Aug 2010]
PHENOTYPE: Animals homozygous for a mutation in this gene have wrinkled skin and die within 1 day after birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cldn1||
(F):5'- GGCTCATGTCTTCAGATGGTAG -3'
(R):5'- TGGCTACGGCAGAAATGTCAC -3'
(F):5'- CCTTGATTTCAAACCACAC -3'
(R):5'- CTACGGCAGAAATGTCACTAGAGTTC -3'