|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.149)|
|Stock #||R7019 (G1)|
|Chromosomal Location||31641028-31668579 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 31667106 bp|
|Amino Acid Change||Glutamine to Histidine at position 261 (Q261H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000087608 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090147]|
|Predicted Effect||possibly damaging
AA Change: Q261H
PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: Q261H
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit behavioral/neurological defects, weakness, bone loss, weight loss, and alopecia when fed a biotin-deprived diet. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Btd||
(F):5'- TTTGAGGCGGCCTTTGATAC -3'
(R):5'- TATTCCCTGTCCCAGTGAGG -3'
(F):5'- TGATACCCCTGCTAACGTGGAC -3'
(R):5'- CTACCTGGGCAATTATAAGGTGACC -3'