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
membrane; regulation of translation; regulation of stem cell maintenance; poly(A) RNA binding; gene silencing by RNA; poly(A)-specific ribonuclease activity; peroxisomal membrane; protein binding; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; negative regulation of retinoic acid receptor signaling pathway; cytoplasmic mRNA processing body; binding; negative regulation of intracellular estrogen receptor signaling pathway; nucleus; trophectodermal cell differentiation; estrogen receptor binding; positive regulation of cytoplasmic mRNA processing body assembly; negative regulation of transcription from RNA polymerase II promoter; CCR4-NOT complex; positive regulation of nuclear-transcribed mRNA catabolic process
deadenylation-dependent decay; RNA phosphodiester bond hydrolysis
exonucleolytic; extracellular space; retinoic acid receptor binding; transcription
DNA-templated
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 95,726,079     (Assembly: GRCm38)    
Ref Base T
Codon Change aAt/aGt
Var Base C
Zygosity Heterozygous
Read Depth 16
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 2125
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL00516
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

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