Atxn1 - SNV Details



 Human Rare Diseases 
Spinocerebellar ataxia type 1

 Gene Information 
Gene Name Atxn1
Old Gene Names for Atxn1 2900016g23rik , C85907 , Sca1
Gene Description ataxin 1 [Source:MGI Symbol;Acc:MGI:104783]
MGI phenotype Mice homozygous for a knock-out allele exhibit decreased exploration, impaired spatial working memory, impaired coordination, and decreased paired-pulse facilitation.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; negative regulation of transcription
DNA-dependent; nuclear inclusion body; transcription
DNA-dependent; RNA binding; visual learning; positive regulation of transcription from RNA polymerase II promoter; regulation of excitatory postsynaptic membrane potential; cytoplasm; poly(G) RNA binding; protein C-terminus binding; nuclear RNA export factor complex; adult locomotory behavior; DNA binding; negative regulation of insulin-like growth factor receptor signaling pathway; intracellular membrane-bounded organelle; negative regulation of phosphorylation; protein binding; nucleus; protein self-association; nuclear matrix; identical protein binding; nuclear export; poly(U) RNA binding
Homolog in other species ATXN1
Omim http://omim.org/entry/601556
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000046876
Chromosome 13
Coordinate 45,567,193     (Assembly: GRCm38)    
Ref Base C
Codon Change Gtc/Atc
Var Base T
Zygosity Heterozygous
Read Depth 119
Allele Frequency
C:R0.57
T:V0.43
Amino Acid Position 409
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL01467
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Sift Score 0.16
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000137439:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Capicua transcriptional repressor modulator, Ataxin-1 Capicua_tscrpt_rep_mod IPR020997 ENSMUSP00000137439 Pfam 391
421 Description available Search pathways

 Availability Details 
Availability Cryopreserved