|Institutional Source||Beutler Lab|
|Gene Name||barttin CLCNK type accessory beta subunit|
|Is this an essential gene?||Probably non essential (E-score: 0.055)|
|Stock #||R6483 (G1)|
|Chromosomal Location||106483456-106492283 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 106488015 bp|
|Amino Acid Change||Leucine to Glutamine at position 78 (L78Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049563 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054472]|
|Predicted Effect||probably damaging
AA Change: L78Q
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: L78Q
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe dehydration and postnatal lethality. Mice homozygous for a cre-activated conditional allele exhibit hearing loss with outer hair cell and stria vascularis degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bsnd||
(F):5'- GTTCTCAGAAAATTCAAGGCAAGG -3'
(R):5'- TCAAGCAGAGACCCTTCCAG -3'
(F):5'- TTCAAGGCAAGGAGGAAACTG -3'
(R):5'- AGGTCCCCCTTCCGCTG -3'