Incidental Mutation 'R1085:Agxt2'
| ID |
84993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agxt2
|
| Ensembl Gene |
ENSMUSG00000089678 |
| Gene Name |
alanine-glyoxylate aminotransferase 2 |
| Synonyms |
|
| MMRRC Submission |
039171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
10358618-10410239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10388338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 278
(T278S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022858]
[ENSMUST00000110542]
|
| AlphaFold |
Q3UEG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022858
AA Change: T306S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: T306S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
76 |
228 |
4.5e-36 |
PFAM |
|
Pfam:Aminotran_3
|
269 |
532 |
5.7e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110542
AA Change: T278S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: T278S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
87 |
443 |
1.3e-88 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit reduced circulating L-citrulline, hypertension under terminal aesthesia and increased vasodilation maximal response following acetylcholine treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,990,489 (GRCm39) |
D3924E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,452,976 (GRCm39) |
T576S |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,662 (GRCm39) |
R247K |
probably benign |
Het |
| Dipk1c |
A |
G |
18: 84,757,509 (GRCm39) |
I198V |
possibly damaging |
Het |
| Gldc |
C |
A |
19: 30,128,828 (GRCm39) |
C215F |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,692,007 (GRCm39) |
Y204F |
probably damaging |
Het |
| Itga11 |
T |
G |
9: 62,585,252 (GRCm39) |
V9G |
probably benign |
Het |
| Mc2r |
A |
G |
18: 68,540,417 (GRCm39) |
F292S |
probably benign |
Het |
| Mcur1 |
A |
G |
13: 43,708,480 (GRCm39) |
S124P |
unknown |
Het |
| Mrtfa |
T |
C |
15: 80,905,084 (GRCm39) |
D116G |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,067,736 (GRCm39) |
Q1964K |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,505,987 (GRCm39) |
T137A |
probably benign |
Het |
| Or5b117 |
C |
T |
19: 13,431,594 (GRCm39) |
A96T |
possibly damaging |
Het |
| Psd2 |
G |
A |
18: 36,145,830 (GRCm39) |
A745T |
probably benign |
Het |
| Rrp36 |
A |
G |
17: 46,978,878 (GRCm39) |
*227Q |
probably null |
Het |
| Sh3tc2 |
A |
C |
18: 62,148,067 (GRCm39) |
D1259A |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex2 |
G |
A |
11: 106,459,313 (GRCm39) |
S39L |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,796 (GRCm39) |
I24T |
possibly damaging |
Het |
| Troap |
T |
C |
15: 98,980,044 (GRCm39) |
V408A |
probably damaging |
Het |
| Ttc16 |
A |
T |
2: 32,665,092 (GRCm39) |
S12T |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,855,964 (GRCm39) |
C460S |
probably damaging |
Het |
|
| Other mutations in Agxt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01958:Agxt2
|
APN |
15 |
10,393,794 (GRCm39) |
splice site |
probably null |
|
|
IGL02434:Agxt2
|
APN |
15 |
10,358,686 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02824:Agxt2
|
APN |
15 |
10,393,891 (GRCm39) |
missense |
probably null |
0.96 |
|
IGL02929:Agxt2
|
APN |
15 |
10,388,379 (GRCm39) |
splice site |
probably benign |
|
|
IGL03368:Agxt2
|
APN |
15 |
10,388,256 (GRCm39) |
nonsense |
probably null |
|
|
PIT4810001:Agxt2
|
UTSW |
15 |
10,399,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0179:Agxt2
|
UTSW |
15 |
10,399,134 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0526:Agxt2
|
UTSW |
15 |
10,373,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1173:Agxt2
|
UTSW |
15 |
10,373,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Agxt2
|
UTSW |
15 |
10,373,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Agxt2
|
UTSW |
15 |
10,380,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Agxt2
|
UTSW |
15 |
10,373,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Agxt2
|
UTSW |
15 |
10,392,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3439:Agxt2
|
UTSW |
15 |
10,381,511 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4485:Agxt2
|
UTSW |
15 |
10,378,968 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4698:Agxt2
|
UTSW |
15 |
10,392,130 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5582:Agxt2
|
UTSW |
15 |
10,399,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Agxt2
|
UTSW |
15 |
10,378,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6109:Agxt2
|
UTSW |
15 |
10,377,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Agxt2
|
UTSW |
15 |
10,393,894 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6868:Agxt2
|
UTSW |
15 |
10,373,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Agxt2
|
UTSW |
15 |
10,377,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7275:Agxt2
|
UTSW |
15 |
10,358,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7475:Agxt2
|
UTSW |
15 |
10,409,623 (GRCm39) |
missense |
probably benign |
|
|
R7792:Agxt2
|
UTSW |
15 |
10,381,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8722:Agxt2
|
UTSW |
15 |
10,373,825 (GRCm39) |
missense |
probably benign |
|
|
R8899:Agxt2
|
UTSW |
15 |
10,378,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Agxt2
|
UTSW |
15 |
10,393,830 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9229:Agxt2
|
UTSW |
15 |
10,409,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Agxt2
|
UTSW |
15 |
10,380,733 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9608:Agxt2
|
UTSW |
15 |
10,400,624 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCATAGTCTGAAGACCTCCAGACC -3'
(R):5'- AGGACTTTGGGAATTCAATGGCTTCAC -3'
Sequencing Primer
(F):5'- CATGGGCTGCTCTCAATTCTC -3'
(R):5'- GGGAATTCAATGGCTTCACTTACC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation