Ace - SNV Details



 Human Rare Diseases 
Renal tubular dysgenesis of genetic origin

 Gene Information 
Gene Name Ace
Old Gene Names for Ace Aw208573
Gene Description angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 [Source:MGI Symbol;Acc:MGI:87874]
MGI phenotype Mice homozygous for a number of different targeted mutations show variable phenotypes, including reduced systemic blood pressure, normocytic anemia, renal abnormalities, inability to concentrate urine, and reduced male fertility.
Uniprot Name
CCDS Name
Gene GO
membrane; metallopeptidase activity; spermatogenesis; regulation of blood pressure; metal ion binding; peptidyl-dipeptidase activity; protein binding; integral component of membrane; carboxypeptidase activity; kidney development; positive regulation of systemic arterial blood pressure; peptidase activity; hormone catabolic process; neutrophil mediated immunity; extracellular region; heart contraction; proteolysis; plasma membrane
Homolog in other species ACE
Omim http://omim.org/entry/106180
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020681
Chromosome 11
Coordinate 105,976,962     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 46
Allele Frequency
T:R0.52
A:V0.48
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL03202
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved