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)
|
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
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 |
0.4381 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |