|Institutional Source||Beutler Lab|
|Gene Name||transducin (beta)-like 3|
|Is this an essential gene?||Probably essential (E-score: 0.971)|
|Stock #||R7780 (G1)|
|Chromosomal Location||24697949-24707660 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 24702231 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 529 (F529L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000120911 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019464] [ENSMUST00000126319]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: F529L
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: F529L
AA Change: F59L
|Meta Mutation Damage Score||0.7665|
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tbl3||
(F):5'- TCAAATGTCTGCAGGGAGAG -3'
(R):5'- TGCCACGACAAAGTAGCCAG -3'
(F):5'- TGTCTGCAGGGAGAGACAGAG -3'
(R):5'- CATACATGGCCTCTGGGGTG -3'