Incidental Mutation 'R6713:Nags'
| ID |
529223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nags
|
| Ensembl Gene |
ENSMUSG00000048217 |
| Gene Name |
N-acetylglutamate synthase |
| Synonyms |
1700120E20Rik |
| MMRRC Submission |
044831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.788)
|
| Stock # |
R6713 (G1)
|
| Quality Score |
199.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102036339-102040303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 102037347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 146
(A146E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055409]
|
| AlphaFold |
Q8R4H7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055409
AA Change: A146E
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217
AA Change: A146E
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol10a |
C |
T |
15: 77,373,051 (GRCm39) |
T229M |
possibly damaging |
Het |
| Cdh16 |
G |
A |
8: 105,346,617 (GRCm39) |
Q226* |
probably null |
Het |
| Cemip |
A |
T |
7: 83,592,845 (GRCm39) |
N1227K |
probably benign |
Het |
| Dusp13b |
A |
G |
14: 21,798,541 (GRCm39) |
V41A |
probably damaging |
Het |
| F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,847,432 (GRCm39) |
M484K |
probably benign |
Het |
| Glb1l |
A |
T |
1: 75,179,061 (GRCm39) |
H253Q |
probably benign |
Het |
| Grm8 |
T |
C |
6: 27,363,190 (GRCm39) |
E775G |
probably damaging |
Het |
| Hipk3 |
C |
T |
2: 104,276,916 (GRCm39) |
V388M |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,232,908 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,453,544 (GRCm39) |
T1491A |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,559,229 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
A |
T |
4: 129,547,777 (GRCm39) |
L257M |
probably damaging |
Het |
| Ldhc |
G |
A |
7: 46,515,955 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
C |
A |
3: 65,591,380 (GRCm39) |
A39D |
probably benign |
Het |
| Lins1 |
A |
G |
7: 66,358,230 (GRCm39) |
T122A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,769,350 (GRCm39) |
R516Q |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,916,255 (GRCm39) |
G72* |
probably null |
Het |
| Mpo |
A |
G |
11: 87,686,194 (GRCm39) |
T115A |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,537 (GRCm39) |
V66A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nkain4 |
C |
T |
2: 180,585,970 (GRCm39) |
G31D |
probably damaging |
Het |
| Or2y1 |
T |
G |
11: 49,385,784 (GRCm39) |
C141W |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,181 (GRCm39) |
H305L |
probably benign |
Het |
| Or5ak24 |
A |
C |
2: 85,260,883 (GRCm39) |
C97G |
probably damaging |
Het |
| Or8a1 |
A |
G |
9: 37,641,560 (GRCm39) |
C240R |
probably damaging |
Het |
| Otud6b |
C |
T |
4: 14,822,739 (GRCm39) |
V122I |
probably benign |
Het |
| Ovca2 |
C |
T |
11: 75,069,569 (GRCm39) |
S18N |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,823,916 (GRCm39) |
S370G |
unknown |
Het |
| Pias2 |
G |
A |
18: 77,153,416 (GRCm39) |
|
probably null |
Het |
| Slc2a10 |
T |
C |
2: 165,357,128 (GRCm39) |
F263L |
probably damaging |
Het |
| Slc6a17 |
T |
G |
3: 107,378,703 (GRCm39) |
M660L |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,323,638 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
G |
7: 127,134,089 (GRCm39) |
T937A |
probably benign |
Het |
| Ssh2 |
C |
A |
11: 77,340,259 (GRCm39) |
D470E |
possibly damaging |
Het |
| St8sia1 |
A |
T |
6: 142,775,008 (GRCm39) |
|
probably null |
Het |
| Supt20 |
T |
A |
3: 54,606,022 (GRCm39) |
I36K |
possibly damaging |
Het |
| Tor1aip2 |
T |
A |
1: 155,941,155 (GRCm39) |
L487Q |
probably damaging |
Het |
| Zfp619 |
G |
T |
7: 39,187,322 (GRCm39) |
K1117N |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTTAGGGGTTCAGTCG -3'
(R):5'- GTGCCTTAGTTCATCCACCAG -3'
Sequencing Primer
(F):5'- CAAGGTGTCCCAGAGTCCAAG -3'
(R):5'- GCACCTTGCAGCTCTGAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation