Incidental Mutation 'IGL00336:Nags'
ID 4490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nags
Ensembl Gene ENSMUSG00000048217
Gene Name N-acetylglutamate synthase
Synonyms 1700120E20Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.813) question?
Stock # IGL00336
Quality Score
Status
Chromosome 11
Chromosomal Location 102145513-102149477 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102149066 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 527 (S527C)
Ref Sequence ENSEMBL: ENSMUSP00000050258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021296] [ENSMUST00000055409]
AlphaFold Q8R4H7
Predicted Effect probably benign
Transcript: ENSMUST00000021296
SMART Domains Protein: ENSMUSP00000021296
Gene: ENSMUSG00000020921

DomainStartEndE-ValueType
Pfam:TMEM101 8 256 9.9e-122 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000055409
AA Change: S527C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217
AA Change: S527C

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
Coding Region Coverage
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,423 D86V possibly damaging Het
A430033K04Rik A G 5: 138,647,104 Y417C probably damaging Het
Adam28 T A 14: 68,622,120 H548L possibly damaging Het
AF529169 T C 9: 89,603,143 D67G probably damaging Het
Agbl3 A T 6: 34,846,836 D812V probably damaging Het
Aox1 T A 1: 58,059,044 L305Q probably damaging Het
Arhgef38 A G 3: 133,132,051 V706A probably benign Het
Arl15 A G 13: 114,154,752 I171V probably benign Het
Cacna1s C A 1: 136,084,273 Y237* probably null Het
Ccnt1 T C 15: 98,565,109 T61A possibly damaging Het
Col25a1 T A 3: 130,181,784 probably benign Het
Col4a1 T A 8: 11,240,077 probably benign Het
Dcun1d1 T C 3: 35,916,306 E130G possibly damaging Het
Dnah7b G A 1: 46,142,149 M1065I probably benign Het
Ephb2 T G 4: 136,657,484 K872T probably damaging Het
Fga G A 3: 83,031,674 G452D probably damaging Het
Flrt1 T A 19: 7,096,912 N90I probably damaging Het
Fut10 T A 8: 31,195,291 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr137b T C 13: 13,374,415 probably benign Het
Gprc5d G A 6: 135,116,490 Q140* probably null Het
Ifi27l2b T C 12: 103,451,217 K237R unknown Het
Ipo8 A T 6: 148,782,786 M836K possibly damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Lama1 A T 17: 67,813,948 H2693L probably benign Het
Lrrc23 A G 6: 124,778,926 W40R probably damaging Het
Morn2 C A 17: 80,295,504 probably benign Het
Ms4a6b T A 19: 11,529,490 N214K possibly damaging Het
Ndst1 C T 18: 60,707,956 G218D probably damaging Het
Olfr1097 C T 2: 86,890,245 C310Y probably benign Het
Olfr1442 T A 19: 12,674,560 Y118* probably null Het
Olfr16 G A 1: 172,957,478 V228M probably benign Het
Oxa1l G T 14: 54,363,345 G92* probably null Het
Parp16 A T 9: 65,229,963 E157V probably damaging Het
Pcdh17 A T 14: 84,447,544 I484F probably damaging Het
Pex16 A G 2: 92,379,235 R263G probably benign Het
Pkd1l3 G A 8: 109,630,237 E765K possibly damaging Het
Plce1 T C 19: 38,651,906 V532A probably damaging Het
Polq A G 16: 37,065,247 probably benign Het
Pramel5 T C 4: 144,271,621 T351A probably damaging Het
Prokr1 A T 6: 87,588,611 I84N probably damaging Het
Prss30 A T 17: 23,973,721 S162T probably benign Het
Ranbp2 A G 10: 58,451,984 K25E probably damaging Het
Rapsn A G 2: 91,035,860 T22A probably damaging Het
Rhoj G T 12: 75,308,906 G9V probably damaging Het
Rnf213 A G 11: 119,449,343 R3467G probably benign Het
Rreb1 C A 13: 37,929,646 S327* probably null Het
Scn5a G A 9: 119,486,224 P1806L probably damaging Het
Sema6a C A 18: 47,289,975 probably null Het
Stag3 G A 5: 138,297,659 E416K probably benign Het
Stpg1 T A 4: 135,529,545 S216T possibly damaging Het
Tfeb C A 17: 47,791,664 N426K probably benign Het
Trp53bp1 G T 2: 121,256,579 Q199K possibly damaging Het
Ubr4 A G 4: 139,428,566 D2234G probably damaging Het
Ush1c T G 7: 46,196,770 Q866P probably benign Het
Vdr T A 15: 97,884,854 D29V probably damaging Het
Vps13c T C 9: 67,945,942 V2439A probably benign Het
Xirp2 T C 2: 67,512,598 S1728P possibly damaging Het
Zfp9 A G 6: 118,464,475 S409P probably damaging Het
Other mutations in Nags
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02308:Nags APN 11 102149071 makesense probably null
IGL02551:Nags APN 11 102147941 missense probably damaging 1.00
IGL03114:Nags APN 11 102148988 missense probably damaging 1.00
R0254:Nags UTSW 11 102147945 missense probably damaging 1.00
R0395:Nags UTSW 11 102145704 missense unknown
R0573:Nags UTSW 11 102146979 missense probably damaging 0.97
R3085:Nags UTSW 11 102145984 missense probably damaging 1.00
R4687:Nags UTSW 11 102148196 missense probably damaging 0.97
R4852:Nags UTSW 11 102146621 nonsense probably null
R5093:Nags UTSW 11 102146569 missense probably damaging 1.00
R5516:Nags UTSW 11 102145947 nonsense probably null
R6374:Nags UTSW 11 102146511 missense possibly damaging 0.58
R6713:Nags UTSW 11 102146521 missense probably benign 0.27
R6741:Nags UTSW 11 102146892 missense possibly damaging 0.88
R7082:Nags UTSW 11 102147472 missense possibly damaging 0.90
R7903:Nags UTSW 11 102146677 missense possibly damaging 0.61
R8234:Nags UTSW 11 102148998 missense probably damaging 1.00
R9072:Nags UTSW 11 102147521 missense probably damaging 1.00
R9073:Nags UTSW 11 102147521 missense probably damaging 1.00
R9090:Nags UTSW 11 102146758 missense probably benign 0.25
R9271:Nags UTSW 11 102146758 missense probably benign 0.25
X0017:Nags UTSW 11 102145747 missense probably benign 0.13
Posted On 2012-04-20