Incidental Mutation 'R6741:Nags'
ID 530461
Institutional Source Beutler Lab
Gene Symbol Nags
Ensembl Gene ENSMUSG00000048217
Gene Name N-acetylglutamate synthase
Synonyms 1700120E20Rik
MMRRC Submission 044858-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.788) question?
Stock # R6741 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 102036339-102040303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102037718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 237 (D237G)
Ref Sequence ENSEMBL: ENSMUSP00000050258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055409]
AlphaFold Q8R4H7
Predicted Effect possibly damaging
Transcript: ENSMUST00000055409
AA Change: D237G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217
AA Change: D237G

DomainStartEndE-ValueType
low complexity region 9 48 N/A INTRINSIC
low complexity region 77 90 N/A INTRINSIC
Pfam:NAT 349 514 3.5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147252
Meta Mutation Damage Score 0.4381 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 97% (34/35)
MGI Phenotype 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
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 A C 3: 30,652,663 (GRCm39) F144V possibly damaging Het
Arhgef12 A G 9: 42,883,503 (GRCm39) I1342T probably benign Het
Dbn1 A G 13: 55,629,350 (GRCm39) probably null Het
Defb12 T C 8: 19,164,757 (GRCm39) E27G probably benign Het
Dennd2b A G 7: 109,144,304 (GRCm39) Y534H possibly damaging Het
Dthd1 A T 5: 63,000,289 (GRCm39) H537L probably damaging Het
Ep400 A T 5: 110,824,761 (GRCm39) S2359T unknown Het
Epha5 T C 5: 84,254,557 (GRCm39) I572V possibly damaging Het
Grb10 C A 11: 11,886,717 (GRCm39) probably null Het
Hectd2 T C 19: 36,589,759 (GRCm39) I628T probably damaging Het
Il17rb T A 14: 29,722,293 (GRCm39) Q246L possibly damaging Het
Knop1 C T 7: 118,445,061 (GRCm39) R301Q possibly damaging Het
Lrp1b T C 2: 41,136,001 (GRCm39) I1770M possibly damaging Het
Mgst1 A C 6: 138,127,836 (GRCm39) D66A probably damaging Het
Nfatc2ip T A 7: 125,995,182 (GRCm39) Q122L possibly damaging Het
Nod2 T C 8: 89,379,694 (GRCm39) V72A probably damaging Het
Notch3 G T 17: 32,362,458 (GRCm39) P1389Q probably benign Het
Or5ac25 A G 16: 59,181,918 (GRCm39) L221P probably damaging Het
Plekhn1 A T 4: 156,306,249 (GRCm39) I607N probably damaging Het
Plekho2 C A 9: 65,471,197 (GRCm39) R84L probably damaging Het
Prag1 A T 8: 36,614,434 (GRCm39) M1329L probably benign Het
Prpsap2 C T 11: 61,631,771 (GRCm39) probably null Het
Ptprf A G 4: 118,080,565 (GRCm39) S1230P probably benign Het
Rigi A G 4: 40,211,624 (GRCm39) I648T probably damaging Het
Rptor T G 11: 119,786,803 (GRCm39) L1256R possibly damaging Het
Sesn3 T C 9: 14,231,636 (GRCm39) I189T possibly damaging Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
Tnfsf13b T C 8: 10,057,314 (GRCm39) F128S possibly damaging Het
Vmn1r49 A G 6: 90,049,195 (GRCm39) V269A probably benign Het
Vmn2r69 T A 7: 85,061,724 (GRCm39) E83D probably benign Het
Vmn2r76 T C 7: 85,879,560 (GRCm39) N247D probably benign Het
Zmym4 A G 4: 126,808,878 (GRCm39) S390P possibly damaging Het
Other mutations in Nags
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Nags APN 11 102,039,892 (GRCm39) missense probably damaging 1.00
IGL02308:Nags APN 11 102,039,897 (GRCm39) makesense probably null
IGL02551:Nags APN 11 102,038,767 (GRCm39) missense probably damaging 1.00
IGL03114:Nags APN 11 102,039,814 (GRCm39) missense probably damaging 1.00
R0254:Nags UTSW 11 102,038,771 (GRCm39) missense probably damaging 1.00
R0395:Nags UTSW 11 102,036,530 (GRCm39) missense unknown
R0573:Nags UTSW 11 102,037,805 (GRCm39) missense probably damaging 0.97
R3085:Nags UTSW 11 102,036,810 (GRCm39) missense probably damaging 1.00
R4687:Nags UTSW 11 102,039,022 (GRCm39) missense probably damaging 0.97
R4852:Nags UTSW 11 102,037,447 (GRCm39) nonsense probably null
R5093:Nags UTSW 11 102,037,395 (GRCm39) missense probably damaging 1.00
R5516:Nags UTSW 11 102,036,773 (GRCm39) nonsense probably null
R6374:Nags UTSW 11 102,037,337 (GRCm39) missense possibly damaging 0.58
R6713:Nags UTSW 11 102,037,347 (GRCm39) missense probably benign 0.27
R7082:Nags UTSW 11 102,038,298 (GRCm39) missense possibly damaging 0.90
R7903:Nags UTSW 11 102,037,503 (GRCm39) missense possibly damaging 0.61
R8234:Nags UTSW 11 102,039,824 (GRCm39) missense probably damaging 1.00
R9072:Nags UTSW 11 102,038,347 (GRCm39) missense probably damaging 1.00
R9073:Nags UTSW 11 102,038,347 (GRCm39) missense probably damaging 1.00
R9090:Nags UTSW 11 102,037,584 (GRCm39) missense probably benign 0.25
R9271:Nags UTSW 11 102,037,584 (GRCm39) missense probably benign 0.25
R9546:Nags UTSW 11 102,039,081 (GRCm39) missense probably damaging 0.97
X0017:Nags UTSW 11 102,036,573 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TTTTGGCGGCGGATCAGTAC -3'
(R):5'- GGGGACTCAGTCTTGCTTAG -3'

Sequencing Primer
(F):5'- ATCAGTACTGAGCGCTGC -3'
(R):5'- AGTGTTATGACGTGGCACAG -3'
Posted On 2018-08-01