Incidental Mutation 'IGL02434:Agxt2'
| ID |
293225 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agxt2
|
| Ensembl Gene |
ENSMUSG00000089678 |
| Gene Name |
alanine-glyoxylate aminotransferase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
10358618-10410239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10358686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022858]
[ENSMUST00000110540]
[ENSMUST00000110541]
[ENSMUST00000110542]
|
| AlphaFold |
Q3UEG6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022858
AA Change: S2P
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: S2P
| 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 |
noncoding transcript
Transcript: ENSMUST00000110540
|
| SMART Domains |
Protein: ENSMUSP00000106169
Gene: ENSMUSG00000089678
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
86 |
122 |
2.6e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110541
AA Change: S2P
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106170
Gene: ENSMUSG00000089678
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
86 |
219 |
1.7e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110542
AA Change: S2P
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
87 |
443 |
1.3e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157020
|
| SMART Domains |
Protein: ENSMUSP00000120297
Gene: ENSMUSG00000094814
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
41 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
C |
A |
15: 72,992,930 (GRCm39) |
G525V |
probably damaging |
Het |
| Atg2b |
C |
T |
12: 105,605,466 (GRCm39) |
V339I |
probably benign |
Het |
| Btc |
T |
A |
5: 91,510,186 (GRCm39) |
I136F |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,604,492 (GRCm39) |
M850K |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,902,616 (GRCm39) |
T179S |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,752,145 (GRCm39) |
L214P |
probably benign |
Het |
| Garnl3 |
T |
A |
2: 32,944,217 (GRCm39) |
N114I |
probably damaging |
Het |
| Gm10010 |
G |
T |
6: 128,177,433 (GRCm39) |
|
noncoding transcript |
Het |
| Gstcd |
A |
G |
3: 132,701,963 (GRCm39) |
|
probably benign |
Het |
| Htr2b |
A |
G |
1: 86,038,492 (GRCm39) |
V38A |
probably benign |
Het |
| Hyal4 |
G |
A |
6: 24,763,857 (GRCm39) |
W339* |
probably null |
Het |
| Ifnb1 |
A |
G |
4: 88,440,755 (GRCm39) |
V86A |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,466,883 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,929,075 (GRCm39) |
S794G |
probably benign |
Het |
| Kdm5c |
T |
A |
X: 151,016,558 (GRCm39) |
M1K |
probably null |
Het |
| Lct |
A |
G |
1: 128,231,527 (GRCm39) |
V774A |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Med14 |
A |
T |
X: 12,612,063 (GRCm39) |
D371E |
possibly damaging |
Het |
| Nrcam |
A |
G |
12: 44,637,026 (GRCm39) |
|
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,935,467 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,279 (GRCm39) |
M220K |
probably benign |
Het |
| Or52e18 |
A |
T |
7: 104,609,281 (GRCm39) |
Y219* |
probably null |
Het |
| Pitpnm1 |
C |
T |
19: 4,153,377 (GRCm39) |
R178W |
probably benign |
Het |
| Prb1b |
T |
A |
6: 132,289,339 (GRCm39) |
R162W |
unknown |
Het |
| Prkcg |
A |
G |
7: 3,367,406 (GRCm39) |
I324V |
probably benign |
Het |
| Prr30 |
A |
T |
14: 101,435,804 (GRCm39) |
C253S |
possibly damaging |
Het |
| Ptgis |
A |
T |
2: 167,082,262 (GRCm39) |
|
probably null |
Het |
| Rab11fip3 |
C |
T |
17: 26,287,809 (GRCm39) |
A115T |
possibly damaging |
Het |
| Reps2 |
C |
T |
X: 161,309,253 (GRCm39) |
|
probably null |
Het |
| Rev3l |
A |
G |
10: 39,698,587 (GRCm39) |
D1028G |
probably damaging |
Het |
| Rsbn1l |
T |
C |
5: 21,124,732 (GRCm39) |
R357G |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,362,859 (GRCm39) |
L587P |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,670,868 (GRCm39) |
T155I |
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,359,700 (GRCm39) |
|
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,282,892 (GRCm39) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,636,191 (GRCm39) |
S593P |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,839,910 (GRCm39) |
S314G |
probably benign |
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 |
|
|
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 |
|
R1085:Agxt2
|
UTSW |
15 |
10,388,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation