Hdlbp - SNV Details



 Gene Information 
Gene Name Hdlbp
Old Gene Names for Hdlbp 1110005p14rik , Aa960365 , Ai118566 , D1ertd101e
Gene Description high density lipoprotein (HDL) binding protein [Source:MGI Symbol;Acc:MGI:99256]
Uniprot Name
CCDS Name
Gene GO
high-density lipoprotein particle; RNA binding; cholesterol metabolic process; cytoplasm; nucleus; lipid transport; biological_process
Homolog in other species HDLBP
Omim http://omim.org/entry/142695
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034088
Chromosome 1
Coordinate 93,417,511     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gAc
Var Base T
Zygosity Heterozygous
Read Depth 58
Allele Frequency
A:R0.53
T:V0.47
Amino Acid Position 714
Amino Acid Change V->D (Valine -> Aspartic acid)
Sample ID IGL02452
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved