Incidental Mutation 'IGL02556:Ace'
ID298519
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ace
Ensembl Gene ENSMUSG00000020681
Gene Nameangiotensin I converting enzyme (peptidyl-dipeptidase A) 1
SynonymsCD143
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02556
Quality Score
Status
Chromosome11
Chromosomal Location105967945-105989964 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105972527 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 376 (D376G)
Ref Sequence ENSEMBL: ENSMUSP00000001963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001963] [ENSMUST00000001964]
Predicted Effect probably damaging
Transcript: ENSMUST00000001963
AA Change: D376G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681
AA Change: D376G

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:Peptidase_M2 45 628 7.1e-257 PFAM
Pfam:Peptidase_M2 648 1226 8.9e-261 PFAM
transmembrane domain 1264 1286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000001964
SMART Domains Protein: ENSMUSP00000001964
Gene: ENSMUSG00000020681

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Peptidase_M2 59 653 N/A PFAM
transmembrane domain 684 706 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130673
Predicted Effect unknown
Transcript: ENSMUST00000132280
AA Change: D142G
SMART Domains Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681
AA Change: D142G

DomainStartEndE-ValueType
Pfam:Peptidase_M2 1 395 2.4e-201 PFAM
Pfam:Peptidase_M2 415 993 1.4e-261 PFAM
low complexity region 999 1014 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152925
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]
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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T G 10: 100,610,717 probably null Het
Adgrb1 C T 15: 74,586,805 T1252I probably damaging Het
Bhmt T C 13: 93,637,500 probably benign Het
Ckap5 T C 2: 91,594,841 probably benign Het
Clcn4 T C 7: 7,296,066 T37A probably benign Het
Cnmd C T 14: 79,661,960 V18I probably benign Het
Cryl1 C T 14: 57,276,021 V248M probably benign Het
D830039M14Rik C T 10: 61,475,483 probably benign Het
Dido1 T C 2: 180,689,335 T107A possibly damaging Het
Efna5 C A 17: 62,651,028 V78F probably damaging Het
Eml1 A G 12: 108,537,366 I741V probably benign Het
Gfap A G 11: 102,896,954 L55P probably damaging Het
Gm884 A G 11: 103,613,283 S2620P probably benign Het
Itga6 A G 2: 71,838,683 I606V probably benign Het
Kif2c G T 4: 117,162,605 D579E probably damaging Het
Lef1 T C 3: 131,194,793 probably null Het
Lrrc1 T A 9: 77,435,122 I357L probably benign Het
Map3k20 T A 2: 72,371,895 F157I probably damaging Het
Naga A T 15: 82,330,136 N391K probably damaging Het
Ncaph T C 2: 127,126,105 probably benign Het
Olfr103 T A 17: 37,336,996 M79L probably benign Het
Olfr290 T G 7: 84,916,359 Y193* probably null Het
Olfr6 T A 7: 106,956,391 I182F possibly damaging Het
Olfr744 C A 14: 50,618,728 Q169K probably benign Het
Olfr769 T G 10: 129,112,035 Y130S probably damaging Het
Olfr972 T A 9: 39,873,610 C112S possibly damaging Het
Pappa C A 4: 65,156,626 D472E possibly damaging Het
Pdxk G A 10: 78,451,485 L81F probably damaging Het
Pkhd1 G T 1: 20,310,710 T2635K probably damaging Het
Psmb6 A T 11: 70,526,422 H99L possibly damaging Het
Ptpn6 C T 6: 124,728,660 G135E probably benign Het
Ptprz1 T A 6: 22,972,845 D251E probably benign Het
Ralgapa1 A G 12: 55,642,449 V1955A possibly damaging Het
Rsph4a T C 10: 33,905,152 probably benign Het
Sh2d4b T C 14: 40,820,743 T359A probably benign Het
Sh3bp5l A G 11: 58,346,261 D348G probably damaging Het
Skint5 A T 4: 113,940,735 M217K probably damaging Het
Slc30a6 T C 17: 74,404,059 L49P probably damaging Het
Slc8a1 C T 17: 81,648,744 M288I probably benign Het
Tmem127 C A 2: 127,256,002 probably null Het
Tnfrsf17 T C 16: 11,313,947 probably benign Het
Trak1 A T 9: 121,448,901 N341I probably damaging Het
Ubr5 A G 15: 38,002,448 I1453T probably benign Het
Wdr62 T C 7: 30,245,284 probably null Het
Xrn2 T C 2: 147,038,296 probably benign Het
Zscan10 C T 17: 23,608,145 A144V possibly damaging Het
Other mutations in Ace
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Ace APN 11 105979550 missense probably benign 0.21
IGL01105:Ace APN 11 105972059 missense probably damaging 1.00
IGL01761:Ace APN 11 105979493 missense possibly damaging 0.70
IGL01888:Ace APN 11 105968944 missense probably benign
IGL02173:Ace APN 11 105988991 missense probably benign 0.04
IGL02179:Ace APN 11 105969789 missense probably benign 0.16
IGL02331:Ace APN 11 105971344 missense possibly damaging 0.61
IGL02333:Ace APN 11 105971447 missense probably benign
IGL02576:Ace APN 11 105974111 missense probably damaging 1.00
IGL03202:Ace APN 11 105976962 missense probably damaging 1.00
R0403:Ace UTSW 11 105973880 splice site probably null
R0709:Ace UTSW 11 105981538 missense probably damaging 0.97
R1555:Ace UTSW 11 105974901 intron probably null
R1603:Ace UTSW 11 105972099 missense probably benign 0.23
R1644:Ace UTSW 11 105985106 missense probably damaging 1.00
R1834:Ace UTSW 11 105986094 splice site probably benign
R2074:Ace UTSW 11 105976623 nonsense probably null
R3025:Ace UTSW 11 105974093 splice site probably null
R3176:Ace UTSW 11 105976702 missense probably null 1.00
R3276:Ace UTSW 11 105976702 missense probably null 1.00
R3977:Ace UTSW 11 105981838 missense possibly damaging 0.96
R4506:Ace UTSW 11 105976666 missense probably damaging 0.98
R4598:Ace UTSW 11 105981759 splice site probably null
R4914:Ace UTSW 11 105979597 missense probably damaging 1.00
R4968:Ace UTSW 11 105981853 missense possibly damaging 0.93
R5137:Ace UTSW 11 105974826 missense probably damaging 1.00
R5274:Ace UTSW 11 105968037 missense probably benign
R5332:Ace UTSW 11 105973879 critical splice donor site probably null
R5388:Ace UTSW 11 105988458 missense possibly damaging 0.85
R5425:Ace UTSW 11 105973428 missense probably damaging 1.00
R5640:Ace UTSW 11 105970685 missense probably damaging 1.00
R5838:Ace UTSW 11 105972880 missense probably benign 0.00
R6041:Ace UTSW 11 105975308 missense probably benign 0.27
R6083:Ace UTSW 11 105985267 nonsense probably null
R6106:Ace UTSW 11 105989012 missense probably damaging 1.00
R6225:Ace UTSW 11 105979619 missense possibly damaging 0.51
R6607:Ace UTSW 11 105972377 missense possibly damaging 0.82
R6918:Ace UTSW 11 105972943 missense probably damaging 1.00
R7330:Ace UTSW 11 105986061 missense probably damaging 1.00
X0018:Ace UTSW 11 105971384 missense probably damaging 1.00
X0063:Ace UTSW 11 105975638 missense probably benign 0.07
Posted On2015-04-16