Cnot1 - SNV Details



 Gene Information 
Gene Name Cnot1
Old Gene Names for Cnot1 Aa815922 , 6030411k04rik
Gene Description CCR4-NOT transcription complex, subunit 1 [Source:MGI Symbol;Acc:MGI:2442402]
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; peroxisomal membrane; protein binding; cytoplasmic mRNA processing body; binding; regulation of transcription
DNA-dependent; biological_process
Homolog in other species CNOT1
Omim http://omim.org/entry/604917
Immgen Expression
HIGH
HIGH
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036550
Chromosome 8
Coordinate 95,728,718     (Assembly: GRCm38)    
Ref Base A
Codon Change aTc/aAc
Var Base T
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.68
T:V0.32
Amino Acid Position 2020
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL01505
Median Base Quality 34
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 60 Other Mutations

 Predictions 
Polyphen Score 0.13
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000063565:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
CCR4-Not complex component, Not1, C-terminal CCR4-Not_Not1_C IPR007196 ENSMUSP00000063565 Pfam 1991
2302 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved