|Institutional Source||Beutler Lab|
|Gene Name||kelch-like 24|
|Is this an essential gene?||Probably non essential (E-score: 0.192)|
|Stock #||R6363 (G1)|
|Chromosomal Location||20097542-20129221 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 20120183 bp|
|Amino Acid Change||Threonine to Isoleucine at position 496 (T496I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023509 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023509]|
|Predicted Effect||possibly damaging
AA Change: T496I
PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: T496I
|Meta Mutation Damage Score||0.1388|
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Klhl24||
(F):5'- CTTGACCAAGAAGCAAGAATTTTCC -3'
(R):5'- AATAATCAGGTCACTTGTTCCCTC -3'
(F):5'- CCAAGAAGCAAGAATTTTCCTAATAC -3'
(R):5'- CTTGTATTTCTGTCTGGACTCTCTG -3'