Cps1 - SNV Details



 Human Rare Diseases 
Carbamoylphosphate synthetase deficiency

 Gene Information 
Gene Name Cps1
Old Gene Names for Cps1 D1ucla3 , 4732433m03rik
Gene Description carbamoyl-phosphate synthetase 1 [Source:MGI Symbol;Acc:MGI:891996]
MGI phenotype Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; response to lipopolysaccharide; response to zinc ion; cellular response to cAMP; glutamate binding; anion homeostasis; homocysteine metabolic process; response to food; response to amine; catalytic activity; mitochondrial nucleoid; glutamine catabolic process; carbamoyl-phosphate synthase (ammonia) activity; cytoplasm; metal ion binding; liver development; nitric oxide metabolic process; response to acid; urea cycle; D-alanine-D-alanine ligase activity; metabolic process; protein complex; protein binding; carbamoyl phosphate biosynthetic process; cellular response to fibroblast growth factor stimulus; response to steroid hormone; positive regulation of vasodilation; cellular response to oleic acid; cellular response to glucagon stimulus; endopeptidase activity; mitochondrial inner membrane; response to drug; response to glucagon; triglyceride catabolic process; midgut development; protein complex binding; nitrogen compound metabolic process; response to growth hormone; response to oleic acid; ATP binding; proteolysis; glycogen catabolic process; response to cAMP; response to starvation; nucleolus; calcium ion binding; phospholipid binding; response to amino acid; response to glucocorticoid; response to toxic substance; modified amino acid binding; response to dexamethasone; hepatocyte differentiation
Homolog in other species CPS1
Omim http://omim.org/entry/608307
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025991
Chromosome 1
Coordinate 67,145,801     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 50
Allele Frequency
T:R0.46
A:V0.54
Amino Acid Change Y->Stop (Tyrosine -> Stop)
Sample ID IGL03255
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved