Incidental Mutation 'IGL02978:Agt'
| ID |
406458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agt
|
| Ensembl Gene |
ENSMUSG00000031980 |
| Gene Name |
angiotensinogen |
| Synonyms |
angiotensin precursor, Aogen, Serpina8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL02978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
125283326-125296445 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125284502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 412
(D412G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063278]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063278
AA Change: D412G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066488
Gene: ENSMUSG00000031980
AA Change: D412G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
111 |
478 |
6.63e-57 |
SMART |
|
| 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, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation of this gene results in small body size and lower body fat, decreased blood pressure and hypotension, kidney abnormalities, polydipsia and polyuria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,073,875 (GRCm39) |
F160I |
probably benign |
Het |
| Als2 |
C |
A |
1: 59,254,324 (GRCm39) |
Q344H |
probably benign |
Het |
| Ate1 |
C |
A |
7: 129,996,470 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,744 (GRCm39) |
H321R |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,277,075 (GRCm39) |
H694N |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,211 (GRCm39) |
N157S |
unknown |
Het |
| Cyp3a44 |
T |
A |
5: 145,725,208 (GRCm39) |
K331I |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,569,082 (GRCm39) |
D749G |
probably damaging |
Het |
| Gal3st4 |
C |
A |
5: 138,263,931 (GRCm39) |
W351L |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,352,517 (GRCm39) |
L136H |
probably benign |
Het |
| Ift25 |
A |
G |
4: 107,132,471 (GRCm39) |
E86G |
probably damaging |
Het |
| Itpripl1 |
A |
T |
2: 126,982,932 (GRCm39) |
F397I |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,093,076 (GRCm39) |
Q1705* |
probably null |
Het |
| Mfge8 |
A |
T |
7: 78,791,458 (GRCm39) |
L248Q |
probably damaging |
Het |
| Mfge8 |
T |
C |
7: 78,791,476 (GRCm39) |
E279G |
possibly damaging |
Het |
| Obox3 |
T |
C |
7: 15,360,178 (GRCm39) |
T164A |
probably benign |
Het |
| Plat |
T |
C |
8: 23,266,835 (GRCm39) |
C276R |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,480,674 (GRCm39) |
R594C |
probably benign |
Het |
| Shroom4 |
T |
A |
X: 6,497,244 (GRCm39) |
D801E |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 59,964,129 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
C |
T |
7: 86,460,555 (GRCm39) |
T627I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,298 (GRCm39) |
T851S |
probably benign |
Het |
|
| Other mutations in Agt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Agt
|
APN |
8 |
125,284,634 (GRCm39) |
splice site |
probably benign |
|
|
IGL01648:Agt
|
APN |
8 |
125,291,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02145:Agt
|
APN |
8 |
125,291,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02929:Agt
|
APN |
8 |
125,283,829 (GRCm39) |
missense |
probably benign |
|
|
IGL03207:Agt
|
APN |
8 |
125,286,107 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0518:Agt
|
UTSW |
8 |
125,283,839 (GRCm39) |
nonsense |
probably null |
|
|
R0521:Agt
|
UTSW |
8 |
125,283,839 (GRCm39) |
nonsense |
probably null |
|
|
R0562:Agt
|
UTSW |
8 |
125,286,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0591:Agt
|
UTSW |
8 |
125,283,678 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0646:Agt
|
UTSW |
8 |
125,283,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1495:Agt
|
UTSW |
8 |
125,286,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Agt
|
UTSW |
8 |
125,283,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Agt
|
UTSW |
8 |
125,283,676 (GRCm39) |
missense |
probably benign |
|
|
R4941:Agt
|
UTSW |
8 |
125,283,727 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5782:Agt
|
UTSW |
8 |
125,283,870 (GRCm39) |
splice site |
probably null |
|
|
R5916:Agt
|
UTSW |
8 |
125,290,597 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6332:Agt
|
UTSW |
8 |
125,284,572 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7769:Agt
|
UTSW |
8 |
125,291,289 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8354:Agt
|
UTSW |
8 |
125,290,842 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8443:Agt
|
UTSW |
8 |
125,290,537 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8454:Agt
|
UTSW |
8 |
125,290,842 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8808:Agt
|
UTSW |
8 |
125,291,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8911:Agt
|
UTSW |
8 |
125,291,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9012:Agt
|
UTSW |
8 |
125,290,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9357:Agt
|
UTSW |
8 |
125,291,065 (GRCm39) |
missense |
probably benign |
|
|
X0067:Agt
|
UTSW |
8 |
125,283,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation