Incidental Mutation 'Z1177:Cenpe'

• ID: 624585
• Institutional Source: Beutler Lab
• Gene Symbol: Cenpe
• Ensembl Gene: ENSMUSG00000045328
• Gene Name: centromere protein E
• Synonyms: 312kDa, CENP-E, Kif10, N-7 kinesin
• Essential gene?: Essential (E-score: 1.000)
• Stock #: Z1177 ()
• Quality Score: 225.009
• Status: Not validated
• Chromosome: 3
• Chromosomal Location: 135212537-135273611 bp(+) (GRCm38)
• Type of Mutation: missense
• DNA Base Change (assembly): G to C at 135216385 bp (GRCm38)
• Zygosity: Heterozygous
• Amino Acid Change: Valine to Leucine at position 68 (V68L)
• Ref Sequence: ENSEMBL: ENSMUSP00000057938
• Gene Model: predicted gene model for transcript(s): [ENSMUST00000062893]
• AlphaFold: no structure available at present
• Predicted Effect: possibly damaging; Transcript: ENSMUST00000062893; AA Change: V68L; PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
• SMART Domains: Protein: ENSMUSP00000057938; Gene: ENSMUSG00000045328; AA Change: V68L

Domain	Start	End	E-Value	Type
KISc	4	337	2.4e-172	SMART
coiled coil region	493	612	N/A	INTRINSIC
coiled coil region	637	752	N/A	INTRINSIC
internal_repeat_1	768	801	3.5e-5	PROSPERO
coiled coil region	821	991	N/A	INTRINSIC
low complexity region	1119	1143	N/A	INTRINSIC
internal_repeat_2	1225	1238	6.26e-5	PROSPERO
low complexity region	1446	1467	N/A	INTRINSIC
low complexity region	1480	1498	N/A	INTRINSIC
internal_repeat_2	1614	1627	6.26e-5	PROSPERO
internal_repeat_1	2018	2051	3.5e-5	PROSPERO
coiled coil region	2226	2247	N/A	INTRINSIC
coiled coil region	2316	2363	N/A	INTRINSIC

• Coding Region Coverage:
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.6%
  • 20x: 99.1%
• MGI Phenotype: FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014] ; PHENOTYPE: Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment. [provided by MGI curators]