|Institutional Source||Beutler Lab|
|Gene Name||centrosomal protein 120|
|Essential gene?||Probably essential (E-score: 0.824)|
|Stock #||R5195 (G1)|
|Chromosomal Location||53681724-53744547 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 53721698 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 455 (H455L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062433 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049811]|
AA Change: H455L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: H455L
|Meta Mutation Damage Score||0.5422|
|Coding Region Coverage||
|Validation Efficiency||97% (72/74)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth arrest at E8.5 and die during organogenesis exhibiting abnormal direction of heart looping. Primary mouse embryonic fibroblasts lack cilia and either one or both centrioles. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cep120||
(F):5'- AGAGCTACCCTGGATCCAAC -3'
(R):5'- CAGTTCCTGTGTTCATAAAGCAGATC -3'
(F):5'- ACCCTGGATCCAACTTAGTCATTAGG -3'
(R):5'- AGCAGATCTGTCAGACTCTGAGC -3'