Incidental Mutation 'IGL03207:Agt'
ID413178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agt
Ensembl Gene ENSMUSG00000031980
Gene Nameangiotensinogen (serpin peptidase inhibitor, clade A, member 8)
SynonymsAogen, angiotensin precursor, Serpina8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL03207
Quality Score
Status
Chromosome8
Chromosomal Location124556534-124569706 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124559368 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 325 (F325S)
Ref Sequence ENSEMBL: ENSMUSP00000066488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063278]
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
4932438A13Rik T C 3: 36,949,996 I1619T possibly damaging Het
Adgrv1 C T 13: 81,106,898 probably null Het
Arnt2 T C 7: 84,343,834 E166G possibly damaging Het
Cacna1h T C 17: 25,391,333 D733G probably damaging Het
Capn2 T G 1: 182,489,013 T294P possibly damaging Het
Cd74 A G 18: 60,811,924 probably benign Het
Eno4 T C 19: 58,953,205 L185P probably benign Het
Exoc5 G A 14: 49,033,375 P398S probably benign Het
Fsd2 T C 7: 81,559,170 M187V probably benign Het
Lrfn5 C T 12: 61,843,326 T467M probably damaging Het
Mrgpra9 A G 7: 47,235,637 I94T possibly damaging Het
Nuak1 A C 10: 84,440,129 F77V possibly damaging Het
Nudt9 T C 5: 104,058,226 probably benign Het
Olfr1019 A G 2: 85,840,973 W273R probably benign Het
Ppp3cc T A 14: 70,247,582 I208F probably damaging Het
Prrc1 G A 18: 57,389,317 R407Q probably benign Het
Ror1 G A 4: 100,407,945 probably null Het
Tmem161b T A 13: 84,294,595 probably benign Het
Wdr35 C A 12: 8,989,936 A347E probably damaging Het
Other mutations in Agt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Agt APN 8 124557895 splice site probably benign
IGL01648:Agt APN 8 124564406 missense probably benign 0.01
IGL02145:Agt APN 8 124564448 missense probably damaging 0.99
IGL02929:Agt APN 8 124557090 missense probably benign
IGL02978:Agt APN 8 124557763 missense possibly damaging 0.93
R0518:Agt UTSW 8 124557100 nonsense probably null
R0521:Agt UTSW 8 124557100 nonsense probably null
R0562:Agt UTSW 8 124559275 missense probably benign 0.00
R0591:Agt UTSW 8 124556939 missense possibly damaging 0.77
R0646:Agt UTSW 8 124557113 missense probably damaging 1.00
R1495:Agt UTSW 8 124559455 missense probably damaging 1.00
R2568:Agt UTSW 8 124556955 missense probably damaging 1.00
R4750:Agt UTSW 8 124556937 missense probably benign
R4941:Agt UTSW 8 124556988 missense probably benign 0.32
R5782:Agt UTSW 8 124557131 splice site probably null
R5916:Agt UTSW 8 124563858 missense possibly damaging 0.70
R6332:Agt UTSW 8 124557833 missense possibly damaging 0.92
R7769:Agt UTSW 8 124564550 missense probably benign 0.41
R8354:Agt UTSW 8 124564103 missense probably benign 0.06
R8443:Agt UTSW 8 124563798 missense possibly damaging 0.82
R8454:Agt UTSW 8 124564103 missense probably benign 0.06
R8808:Agt UTSW 8 124564289 missense probably benign 0.01
R8911:Agt UTSW 8 124564445 missense probably benign 0.00
X0067:Agt UTSW 8 124556955 missense probably damaging 1.00
Posted On2016-08-02