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
membrane; protein binding; binding; extracellular vesicular exosome; cellular_component; biological_process
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 Splice
Ensembl ID ENSMUSG00000039414
Chromosome 17
Coordinate 78,763,080     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.68
T:V0.32
Amino Acid Change Disrupted splicing
Splice Position 3
Sample ID IGL03243
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved