Incidental Mutation 'IGL03207:Agt'
ID 413178
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: 0.106) question?
Stock # IGL03207
Quality Score
Status
Chromosome 8
Chromosomal Location 125283326-125296445 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125286107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 325 (F325S)
Ref Sequence ENSEMBL: ENSMUSP00000066488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063278]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000063278
AA Change: F325S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066488
Gene: ENSMUSG00000031980
AA Change: F325S

DomainStartEndE-ValueType
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,255,017 (GRCm39) probably null Het
Arnt2 T C 7: 83,993,042 (GRCm39) E166G possibly damaging Het
Bltp1 T C 3: 37,004,145 (GRCm39) I1619T possibly damaging Het
Cacna1h T C 17: 25,610,307 (GRCm39) D733G probably damaging Het
Capn2 T G 1: 182,316,578 (GRCm39) T294P possibly damaging Het
Cd74 A G 18: 60,944,996 (GRCm39) probably benign Het
Eno4 T C 19: 58,941,637 (GRCm39) L185P probably benign Het
Exoc5 G A 14: 49,270,832 (GRCm39) P398S probably benign Het
Fsd2 T C 7: 81,208,918 (GRCm39) M187V probably benign Het
Lrfn5 C T 12: 61,890,112 (GRCm39) T467M probably damaging Het
Mrgpra9 A G 7: 46,885,385 (GRCm39) I94T possibly damaging Het
Nuak1 A C 10: 84,275,993 (GRCm39) F77V possibly damaging Het
Nudt9 T C 5: 104,206,092 (GRCm39) probably benign Het
Or5ar1 A G 2: 85,671,317 (GRCm39) W273R probably benign Het
Ppp3cc T A 14: 70,485,031 (GRCm39) I208F probably damaging Het
Prrc1 G A 18: 57,522,389 (GRCm39) R407Q probably benign Het
Ror1 G A 4: 100,265,142 (GRCm39) probably null Het
Tmem161b T A 13: 84,442,714 (GRCm39) probably benign Het
Wdr35 C A 12: 9,039,936 (GRCm39) A347E probably damaging Het
Other mutations in Agt
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02978:Agt APN 8 125,284,502 (GRCm39) missense possibly damaging 0.93
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