Slc6a4 - SNV Details



 Human Rare Diseases 
Huntington disease
Juvenile Huntington disease

 Gene Information 
Gene Name Slc6a4
Old Gene Names for Slc6a4 C430023i11rik , Ai256365 , Hd , Hdh , Ai323329 , Htt
Gene Description huntingtin [Source:MGI Symbol;Acc:MGI:96067]
MGI phenotype Null mutants gastrulate abnormally and die in utero. Conditional mutants are small with progressive neurodegeneration. Knock-ins of 20-150 CAG repeat units variably mimic Huntington's with late-onset motor defects, reactive gliosis and neuronal inclusions.
Uniprot Name
CCDS Name
Gene GO
Golgi to ER
Golgi apparatus
Golgi organization
autophagic vacuole
axon
beta-tubulin binding
binding
cytoplasm
cytoplasmic vesicle membrane
cytosol
dendrite
Homolog in other species HTT
Omim http://omim.org/entry/182138
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029104
Chromosome 5
Coordinate 34,818,677     (Assembly: GRCm38)    
Ref Base T
Codon Change Tct/Act
Var Base A
Zygosity Heterozygous
Read Depth 66
Allele Frequency
T:0.44
A:0.56
Amino Acid Position 670
Amino Acid Change S->T (Serine -> Threonine)
Sample ID IGL00953
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown
Sift Score 0.32
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000078945:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000078945 Superfamily 61
1284 Description available Search pathways

 Availability Details 
Availability