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 toxin; response to lipopolysaccharide; response to zinc ion; cellular response to cAMP; glutamate binding; anion homeostasis; homocysteine metabolic process; response to steroid hormone stimulus; response to food; catalytic activity; mitochondrial nucleoid; glutamine catabolic process; carbamoyl-phosphate synthase (ammonia) activity; cytoplasm; metal ion binding; liver development; nitric oxide metabolic process; response to glucagon stimulus; response to acid; urea cycle; response to growth hormone stimulus; D-alanine-D-alanine ligase activity; metabolic process; protein complex; response to glucocorticoid stimulus; protein binding; response to dexamethasone stimulus; carbamoyl phosphate biosynthetic process; response to amino acid stimulus; cellular response to fibroblast growth factor stimulus; positive regulation of vasodilation; response to amine stimulus; cellular response to oleic acid; cellular response to glucagon stimulus; endopeptidase activity; mitochondrial inner membrane; response to drug; triglyceride catabolic process; midgut development; peptidoglycan biosynthetic process; protein complex binding; nitrogen compound metabolic process; response to oleic acid; ATP binding; glycogen catabolic process; response to cAMP; response to starvation; nucleolus; calcium ion binding; phospholipid binding; modified amino acid binding; 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 67,195,166     (Assembly: GRCm38)    
Ref Base T
Codon Change cTg/cCg
Var Base C
Zygosity Heterozygous
Read Depth 28
Allele Frequency
T:R0.68
C:V0.32
Amino Acid Position 904
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL01063
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

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

 Protein domains 
ENSMUSP00000027144:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Carbamoyl-phosphate synthase, large subunit CarbamoylP_synth_lsu IPR006275 ENSMUSP00000027144 TIGRfam 419
1476 Description available Search pathways
Carbamoyl-phosphate synthetase, large subunit oligomerisation domain CarbamoylP_synth_lsu_oligo IPR005480 ENSMUSP00000027144 Pfam 839
962 Description available Search pathways
Carbamoyl-phosphate synthetase, large subunit oligomerisation domain CarbamoylP_synth_lsu_oligo IPR005480 ENSMUSP00000027144 Superfamily 810
970 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved