Heatr5b - SNV Details



 Gene Information 
Gene Name Heatr5b
Old Gene Names for Heatr5b Av071430 , A230048g03rik , 2010013b10rik , D330050p16rik
Gene Description HEAT repeat containing 5B [Source:MGI Symbol;Acc:MGI:2444098]
Uniprot Name
CCDS Name
Gene GO
binding
biological_process
cellular_component
molecular_function
protein binding
Homolog in other species HEATR5B
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039414
Chromosome 17
Coordinate 78,824,634     (Assembly: GRCm38)    
Ref Base G
Codon Change Cac/Aac
Var Base T
Zygosity Heterozygous
Read Depth 14
Allele Frequency
G:0.50
T:0.50
Amino Acid Position 347
Amino Acid Change H->N (Histidine -> Asparagine)
Sample ID IGL00786
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.19
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000094882:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000094882 Superfamily 12
1201 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved