|Institutional Source||Beutler Lab|
|Gene Name||N-acetylglutamate synthase|
|Is this an essential gene?||Probably essential (E-score: 0.811)|
|Stock #||R7903 (G1)|
|Chromosomal Location||102145513-102149477 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 102146677 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 198 (D198V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050258 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055409]|
AA Change: D198V
PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: D198V
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: In the absence of N-carbamyl-L-glutamate and L-citrulline supplementation homozygous null mice develop severe hyperammonemia and die. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nags||
(F):5'- TCTGTACAGGTCGATGAGGAGG -3'
(R):5'- TGCAACAGGTCTGTCTCCAC -3'
(F):5'- TACAGGTCGATGAGGAGGTGATC -3'
(R):5'- ACGATGCCACCGTAGCTGTG -3'