Cenpf - SNV Details



 Gene Information 
Gene Name Cenpf
Old Gene Names for Cenpf Lek1 , 6530404a22rik , Ai325968
Gene Description centromere protein F [Source:MGI Symbol;Acc:MGI:1313302]
Uniprot Name
CCDS Name
Gene GO
regulation of striated muscle tissue development; mitotic cell cycle; negative regulation of transcription
DNA-dependent; chromosome
centromeric region; metaphase plate congression; cytoplasm; midbody; protein transport; protein C-terminus binding; M phase of mitotic cell cycle; protein homodimerization activity; protein binding; G2 phase of mitotic cell cycle; nucleus; pronucleus; spindle; nuclear envelope; nuclear matrix; dynein binding; spindle pole; regulation of G2/M transition of mitotic cell cycle; kinetochore; transcription factor binding; chromosome segregation
Homolog in other species CENPF
Omim http://omim.org/entry/600236
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
LOW/MEDIAN
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026605
Chromosome 1
Coordinate 189,680,333     (Assembly: GRCm38)    
Ref Base T
Codon Change gaA/gaT
Var Base A
Zygosity Heterozygous
Read Depth 74
Allele Frequency
T:R0.45
A:V0.55
Amino Acid Position 244
Amino Acid Change E->D (Glutamic acid -> Aspartic acid)
Sample ID IGL01154
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0.86
Polyphen Prediction Possibly damaging
Sift Score 0.07
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000129738:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Centromere protein Cenp-F, N-terminal Centromere_CenpF_N IPR018463 ENSMUSP00000129738 Pfam 1
281 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved