Heatr1 - SNV Details



 Gene Information 
Gene Name Heatr1
Old Gene Names for Heatr1 Bc019693 , Aa517551 , B130016l12rik
Gene Description HEAT repeat containing 1 [Source:MGI Symbol;Acc:MGI:2442524]
Uniprot Name
CCDS Name
Gene GO
binding
protein binding
Homolog in other species HEATR1
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
Gnf Expression
MEDIAN(HIGH IN EMB GROUP, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000050244
Chromosome 13
Coordinate 12,410,450     (Assembly: GRCm38)    
Ref Base T
Codon Change agT/agA
Var Base A
Zygosity Heterozygous
Read Depth 70
Allele Frequency
T:0.56
A:0.44
Amino Acid Position 590
Amino Acid Change S->R (Serine -> Arginine)
Sample ID IGL00666
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 9 Other Mutations

 Predictions 
Polyphen Score 0.08
Polyphen Prediction Benign
Sift Score 0.27
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000054084:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000054084 Superfamily 192
1048 Description available Search pathways

 Availability Details 
Availability Cryopreserved