Cbs - SNV Details



 Human Rare Diseases 
Classical homocystinuria

 Gene Information 
Gene Name Cbs
Old Gene Names for Cbs Ai047524 , Ai303044
Gene Description cystathionine beta-synthase [Source:MGI Symbol;Acc:MGI:88285]
MGI phenotype Homozygous targeted mutants are severely growth retarded and die within 5 weeks of birth with enlarged multinucleate hepatocytes filled with lipid and massively elevated plasma homocysteine levels. Heterozygotes have twice normal homocysteine levels, but survive and breed.
Uniprot Name
CCDS Name
Gene GO
cysteine biosynthetic process via cystathionine; response to nutrient levels; cysteine synthase activity; enzyme binding; homocysteine metabolic process; hydrogen sulfide biosynthetic process; cysteine biosynthetic process; cartilage development involved in endochondral bone morphogenesis; superoxide metabolic process; cytoplasm; transsulfuration; metal ion binding; negative regulation of apoptotic process; cerebellum morphogenesis; ubiquitin protein ligase binding; cysteine biosynthetic process from serine; response to folic acid; cystathionine beta-synthase activity; maternal process involved in female pregnancy; pyridoxal phosphate binding; protein homodimerization activity; L-serine metabolic process; intracellular membrane-bounded organelle; protein binding; regulation of blood vessel size; transferase activity; nucleus; heme binding; homocysteine catabolic process; cytosol; cellular response to hypoxia; endochondral ossification; blood vessel remodeling; regulation of cGMP metabolic process; nucleolus; L-cysteine catabolic process; L-serine catabolic process; regulation of JUN kinase activity; modified amino acid binding
Homolog in other species CBS
Omim http://omim.org/entry/613381
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024039
Chromosome 17
Coordinate 31,615,545     (Assembly: GRCm38)    
Ref Base T
Codon Change gAc/gCc
Var Base G
Zygosity Heterozygous
Read Depth 60
Allele Frequency
T:R0.57
G:V0.43
Amino Acid Position 490
Amino Acid Change D->A (Aspartic acid -> Alanine)
Sample ID IGL02089
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0.19
Polyphen Prediction Benign
Sift Score 0.45
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved