Incidental Mutation 'IGL02929:Agt'
ID 364026
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 # IGL02929
Quality Score
Status
Chromosome 8
Chromosomal Location 125283326-125296445 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 125283829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 430 (A430E)
Ref Sequence ENSEMBL: ENSMUSP00000066488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063278]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000063278
AA Change: A430E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066488
Gene: ENSMUSG00000031980
AA Change: A430E

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
Agxt2 T C 15: 10,388,379 (GRCm39) 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 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
IGL02978:Agt APN 8 125,284,502 (GRCm39) missense possibly damaging 0.93
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 2015-12-18