Incidental Mutation 'IGL02929:Agxt2'
| ID |
364037 |
| 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 # |
IGL02929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
10358618-10410239 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 10388379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022858]
[ENSMUST00000110542]
|
| AlphaFold |
Q3UEG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022858
|
| SMART Domains |
Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
87 |
443 |
1.3e-88 |
PFAM |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330070K13Rik |
A |
G |
5: 130,413,252 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
T |
C |
12: 118,908,674 (GRCm39) |
Y90C |
probably damaging |
Het |
| Accs |
T |
C |
2: 93,674,566 (GRCm39) |
D112G |
probably damaging |
Het |
| Adam32 |
C |
A |
8: 25,362,659 (GRCm39) |
V13L |
possibly damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,592,905 (GRCm39) |
V294A |
probably benign |
Het |
| Agt |
G |
T |
8: 125,283,829 (GRCm39) |
A430E |
probably benign |
Het |
| Atp2a1 |
A |
T |
7: 126,056,116 (GRCm39) |
I235N |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,733 (GRCm39) |
I516M |
possibly damaging |
Het |
| Atrx |
T |
C |
X: 104,923,512 (GRCm39) |
|
probably null |
Het |
| Brcc3 |
T |
C |
X: 74,479,105 (GRCm39) |
V117A |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,624,105 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,892,115 (GRCm39) |
V286D |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,329,630 (GRCm39) |
D32G |
probably benign |
Het |
| Cpsf1 |
C |
A |
15: 76,486,327 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
C |
T |
4: 102,917,188 (GRCm39) |
W552* |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,218,048 (GRCm39) |
V1174E |
probably damaging |
Het |
| Dqx1 |
A |
G |
6: 83,037,465 (GRCm39) |
|
probably benign |
Het |
| Ercc1 |
T |
C |
7: 19,089,288 (GRCm39) |
|
probably null |
Het |
| Fn1 |
A |
G |
1: 71,634,821 (GRCm39) |
|
probably null |
Het |
| Garre1 |
A |
T |
7: 33,944,507 (GRCm39) |
M75K |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,744,322 (GRCm39) |
L2087P |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,879,838 (GRCm39) |
D612G |
probably damaging |
Het |
| Igkv6-25 |
A |
G |
6: 70,192,929 (GRCm39) |
Y112C |
probably damaging |
Het |
| Kit |
C |
A |
5: 75,801,429 (GRCm39) |
P572Q |
probably damaging |
Het |
| Kras |
A |
G |
6: 145,177,815 (GRCm39) |
|
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,067,970 (GRCm39) |
K6R |
possibly damaging |
Het |
| Man1a |
C |
T |
10: 53,801,531 (GRCm39) |
V443I |
probably benign |
Het |
| Mat2b |
A |
C |
11: 40,575,540 (GRCm39) |
D154E |
probably benign |
Het |
| Mtrf1 |
A |
G |
14: 79,640,273 (GRCm39) |
K143E |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,257,991 (GRCm39) |
I95L |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,127,978 (GRCm39) |
D571E |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,821,119 (GRCm38) |
D28E |
possibly damaging |
Het |
| Npm2 |
T |
A |
14: 70,889,678 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,543,715 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,810 (GRCm39) |
M368T |
probably benign |
Het |
| Rnf123 |
G |
T |
9: 107,946,275 (GRCm39) |
T300K |
probably benign |
Het |
| Sbspon |
A |
G |
1: 15,954,069 (GRCm39) |
|
probably benign |
Het |
| Slc52a2 |
G |
A |
15: 76,424,776 (GRCm39) |
C338Y |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,940,604 (GRCm39) |
Q148L |
possibly damaging |
Het |
| Tle5 |
T |
A |
10: 81,400,672 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,692,623 (GRCm39) |
K790* |
probably null |
Het |
| Ushbp1 |
C |
T |
8: 71,847,120 (GRCm39) |
A171T |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,879,198 (GRCm39) |
T1504A |
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 |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation