|Institutional Source||Beutler Lab|
|Gene Name||centromere protein F|
|Synonyms||mitosin, 6530404A22Rik, Lek1|
|Is this an essential gene?||Possibly essential (E-score: 0.597)|
|Stock #||RF006 (G1)|
|Chromosomal Location||189640606-189688086 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 189657386 bp|
|Amino Acid Change||Cysteine to Tryptophan at position 1416 (C1416W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000129738 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165962] [ENSMUST00000171929]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: C1416W
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: C1416W
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cenpf||
(F):5'- AATTTGTCAGAGACGGGCTG -3'
(R):5'- TCTGTCCCAGAATGAGCTGATG -3'
(F):5'- CAGAACGACAGTGGCAGACC -3'
(R):5'- TGAGCTGATGAAGGACACCTC -3'