|Institutional Source||Beutler Lab|
|Gene Name||centrosomal protein 350|
|Is this an essential gene?||Probably essential (E-score: 0.950)|
|Stock #||R1988 (G1)|
|Chromosomal Location||155844964-155973255 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 155933104 bp|
|Amino Acid Change||Asparagine to Lysine at position 575 (N575K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000120085 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000124495] [ENSMUST00000138762]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: N575K
PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: N575K
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cep350||
(F):5'- GAAGCCGTCTAGAGACCAATGG -3'
(R):5'- TTGCCAGTTGAAATTCGTGG -3'
(F):5'- AGAGAAGGCTTCCCTCTGTC -3'
(R):5'- CCAGTTGAAATTCGTGGGATTC -3'