|Institutional Source||Beutler Lab|
|Gene Name||inner centromere protein|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0164 (G1)|
|Chromosomal Location||9872297-9899533 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 9894879 bp|
|Amino Acid Change||Serine to Proline at position 72 (S72P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025562 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025562]|
|Predicted Effect||probably benign
AA Change: S72P
PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: S72P
|Meta Mutation Damage Score||0.198|
|Coding Region Coverage||
|Validation Efficiency||98% (85/87)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant embryos die before E8.5. Embryonic cells exhibit abnormal nuclei and abberent mitosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Incenp||
(F):5'- GCATCTCAACTGTCAGAGTCAGCG -3'
(R):5'- TGTCTCCATAGGTCAGGGTTCCTTC -3'
(F):5'- GTGGGCCACAAATCACTATTG -3'
(R):5'- AGCTGCTGATTTCACAGAGC -3'