Asph - SNV Details



 Gene Information 
Gene Name Asph
Old Gene Names for Asph 3110001l23rik , Ai848629 , 2310005f16rik , Aw261690 , Aw561901
Gene Description aspartate-beta-hydroxylase [Source:MGI Symbol;Acc:MGI:1914186]
MGI phenotype Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility.
Uniprot Name
CCDS Name
Gene GO
limb morphogenesis; integral to endoplasmic reticulum membrane; peptidyl-amino acid modification; cortical endoplasmic reticulum; membrane; integral to membrane; face morphogenesis; regulation of inositol 1
4
5-trisphosphate-sensitive calcium-release channel activity; peptidyl-aspartic acid hydroxylation; response to ATP; activation of store-operated calcium channel activity; protein binding; negative regulation of cell proliferation; palate development; positive regulation of transcription
DNA-dependent; peptide-aspartate beta-dioxygenase activity; cellular response to calcium ion; positive regulation of intracellular protein transport; pattern specification process; oxidoreductase activity
acting on single donors with incorporation of molecular oxygen
incorporation of two atoms of oxygen; plasma membrane; calcium ion transmembrane transport; positive regulation of calcium ion transport into cytosol
Homolog in other species ASPH
Omim http://omim.org/entry/600582
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
MEDIAN(HIGH IN C2C12, HEART, SKELETALMUSCLE)
MEDIAN(HIGH IN CEREBELLUM)
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028207
Chromosome 4
Coordinate 9,514,643     (Assembly: GRCm38)    
Ref Base A
Codon Change gaT/gaA
Var Base T
Zygosity Heterozygous
Read Depth 31
Allele Frequency
A:R0.48
T:V0.52
Amino Acid Position 491
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL01907
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging
Sift Score 0.22
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved