Incidental Mutation 'IGL02308:Nags'
| ID |
287703 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nags
|
| Ensembl Gene |
ENSMUSG00000048217 |
| Gene Name |
N-acetylglutamate synthase |
| Synonyms |
1700120E20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.788)
|
| Stock # |
IGL02308
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102036339-102040303 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 102039897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 528
(*528W)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM101
|
8 |
256 |
9.9e-122 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000055409
AA Change: *528W
|
| SMART Domains |
Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217
AA Change: *528W
| Domain | Start | End | E-Value | Type |
|---|
|
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,093,308 (GRCm39) |
S8F |
probably damaging |
Het |
| Alpk1 |
T |
A |
3: 127,522,931 (GRCm39) |
Q37L |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,736,463 (GRCm39) |
T1343A |
probably benign |
Het |
| Cmbl |
C |
A |
15: 31,585,554 (GRCm39) |
P146Q |
possibly damaging |
Het |
| Cog2 |
A |
T |
8: 125,259,951 (GRCm39) |
|
probably null |
Het |
| Dgkh |
C |
A |
14: 78,825,016 (GRCm39) |
V880L |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,402,141 (GRCm39) |
S1114P |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,080,828 (GRCm39) |
V723D |
probably damaging |
Het |
| Gdf11 |
A |
G |
10: 128,721,253 (GRCm39) |
Y314H |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,031 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
G |
A |
11: 57,127,750 (GRCm39) |
V320I |
probably benign |
Het |
| H2-Q10 |
T |
A |
17: 35,784,463 (GRCm39) |
*326R |
probably null |
Het |
| Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,832,120 (GRCm39) |
|
probably benign |
Het |
| Mios |
A |
G |
6: 8,231,269 (GRCm39) |
I718V |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,096,893 (GRCm39) |
V318A |
probably damaging |
Het |
| Nom1 |
T |
A |
5: 29,642,708 (GRCm39) |
V403D |
probably damaging |
Het |
| Npffr2 |
C |
A |
5: 89,731,310 (GRCm39) |
N413K |
probably benign |
Het |
| Olr1 |
C |
T |
6: 129,476,860 (GRCm39) |
R135K |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,779,121 (GRCm39) |
Y26N |
probably benign |
Het |
| Or52e8 |
T |
A |
7: 104,624,665 (GRCm39) |
I176F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,140,600 (GRCm39) |
|
probably null |
Het |
| Ptpro |
A |
G |
6: 137,431,698 (GRCm39) |
M1158V |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,001,017 (GRCm39) |
K238E |
probably damaging |
Het |
| Smarcc2 |
G |
T |
10: 128,318,641 (GRCm39) |
R641L |
probably damaging |
Het |
| Th |
T |
C |
7: 142,451,794 (GRCm39) |
E75G |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Top6bl |
T |
C |
19: 4,713,583 (GRCm39) |
K132E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,724,705 (GRCm39) |
R2107* |
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,245,119 (GRCm39) |
C1636S |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,741,597 (GRCm39) |
I103K |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,437 (GRCm39) |
M558V |
possibly damaging |
Het |
| Zzef1 |
G |
A |
11: 72,777,573 (GRCm39) |
M1801I |
probably benign |
Het |
|
| Other mutations in Nags |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Nags
|
APN |
11 |
102,039,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
R6741:Nags
|
UTSW |
11 |
102,037,718 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation