Kntc1 - SNV Details



 Gene Information 
Gene Name Kntc1
Gene Description kinetochore associated 1 [Source:MGI Symbol;Acc:MGI:2673709]
Uniprot Name
CCDS Name
Gene GO
cell division; condensed chromosome kinetochore; cytoplasm; mitosis; protein binding; mitotic cell cycle checkpoint; nucleus; kinetochore microtubule; spindle pole; molecular_function
Homolog in other species KNTC1
Omim http://omim.org/entry/607363
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
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM GROUP, OSTEO GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029414
Chromosome 5
Coordinate 123,758,483     (Assembly: GRCm38)    
Ref Base A
Codon Change tAc/tGc
Var Base G
Zygosity Heterozygous
Read Depth 92
Allele Frequency
A:R0.39
G:V0.59
Amino Acid Position 136
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL01367
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000031366:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
WD40-repeat-containing domain WD40_repeat_dom IPR017986 ENSMUSP00000031366 Superfamily 96
370 Description available Search pathways

 Availability Details 
Availability Cryopreserved