Hbb-bh1 - SNV Details



 Gene Information 
Gene Name Hbb-bh1
Gene Description hemoglobin Z, beta-like embryonic chain [Source:MGI Symbol;Acc:MGI:96024]
MGI phenotype Mice with disruptions in this gene are grossly normal and viable through adulthood.
Uniprot Name
CCDS Name
Gene GO
oxygen binding; oxygen transporter activity; hemoglobin complex; heme binding; negative regulation of transcription from RNA polymerase II promoter; iron ion binding
Homolog in other species HBG2
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
MEDIAN(HIGH IN EMB GROUP, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052217
Chromosome 7
Coordinate 103,842,810     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 49
Allele Frequency
T:R0.47
A:V0.53
Amino Acid Change K->Stop (Lysine -> Stop)
Sample ID IGL02251
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved