Incidental Mutation 'IGL02556:Ace'
ID 298519
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ace
Ensembl Gene ENSMUSG00000020681
Gene Name angiotensin I converting enzyme
Synonyms CD143
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02556
Quality Score
Status
Chromosome 11
Chromosomal Location 105858774-105880790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105863353 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P09470
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: 100,446,579 (GRCm39) probably null Het
Adgrb1 C T 15: 74,458,654 (GRCm39) T1252I probably damaging Het
Bhmt T C 13: 93,774,008 (GRCm39) probably benign Het
Ckap5 T C 2: 91,425,186 (GRCm39) probably benign Het
Clcn4 T C 7: 7,299,065 (GRCm39) T37A probably benign Het
Cnmd C T 14: 79,899,400 (GRCm39) V18I probably benign Het
Cryl1 C T 14: 57,513,478 (GRCm39) V248M probably benign Het
D830039M14Rik C T 10: 61,311,262 (GRCm39) probably benign Het
Dido1 T C 2: 180,331,128 (GRCm39) T107A possibly damaging Het
Efna5 C A 17: 62,958,023 (GRCm39) V78F probably damaging Het
Eml1 A G 12: 108,503,625 (GRCm39) I741V probably benign Het
Gfap A G 11: 102,787,780 (GRCm39) L55P probably damaging Het
Itga6 A G 2: 71,669,027 (GRCm39) I606V probably benign Het
Kif2c G T 4: 117,019,802 (GRCm39) D579E probably damaging Het
Lef1 T C 3: 130,988,442 (GRCm39) probably null Het
Lrrc1 T A 9: 77,342,404 (GRCm39) I357L probably benign Het
Lrrc37 A G 11: 103,504,109 (GRCm39) S2620P probably benign Het
Map3k20 T A 2: 72,202,239 (GRCm39) F157I probably damaging Het
Naga A T 15: 82,214,337 (GRCm39) N391K probably damaging Het
Ncaph T C 2: 126,968,025 (GRCm39) probably benign Het
Or11g2 C A 14: 50,856,185 (GRCm39) Q169K probably benign Het
Or12d13 T A 17: 37,647,887 (GRCm39) M79L probably benign Het
Or5ae1 T G 7: 84,565,567 (GRCm39) Y193* probably null Het
Or6b9 T A 7: 106,555,598 (GRCm39) I182F possibly damaging Het
Or6c2b T G 10: 128,947,904 (GRCm39) Y130S probably damaging Het
Or8g55 T A 9: 39,784,906 (GRCm39) C112S possibly damaging Het
Pappa C A 4: 65,074,863 (GRCm39) D472E possibly damaging Het
Pdxk G A 10: 78,287,319 (GRCm39) L81F probably damaging Het
Pkhd1 G T 1: 20,380,934 (GRCm39) T2635K probably damaging Het
Psmb6 A T 11: 70,417,248 (GRCm39) H99L possibly damaging Het
Ptpn6 C T 6: 124,705,623 (GRCm39) G135E probably benign Het
Ptprz1 T A 6: 22,972,844 (GRCm39) D251E probably benign Het
Ralgapa1 A G 12: 55,689,234 (GRCm39) V1955A possibly damaging Het
Rsph4a T C 10: 33,781,148 (GRCm39) probably benign Het
Sh2d4b T C 14: 40,542,700 (GRCm39) T359A probably benign Het
Sh3bp5l A G 11: 58,237,087 (GRCm39) D348G probably damaging Het
Skint5 A T 4: 113,797,932 (GRCm39) M217K probably damaging Het
Slc30a6 T C 17: 74,711,054 (GRCm39) L49P probably damaging Het
Slc8a1 C T 17: 81,956,173 (GRCm39) M288I probably benign Het
Tmem127 C A 2: 127,097,922 (GRCm39) probably null Het
Tnfrsf17 T C 16: 11,131,811 (GRCm39) probably benign Het
Trak1 A T 9: 121,277,967 (GRCm39) N341I probably damaging Het
Ubr5 A G 15: 38,002,692 (GRCm39) I1453T probably benign Het
Wdr62 T C 7: 29,944,709 (GRCm39) probably null Het
Xrn2 T C 2: 146,880,216 (GRCm39) probably benign Het
Zscan10 C T 17: 23,827,119 (GRCm39) A144V possibly damaging Het
Other mutations in Ace
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Ace APN 11 105,870,376 (GRCm39) missense probably benign 0.21
IGL01105:Ace APN 11 105,862,885 (GRCm39) missense probably damaging 1.00
IGL01761:Ace APN 11 105,870,319 (GRCm39) missense possibly damaging 0.70
IGL01888:Ace APN 11 105,859,770 (GRCm39) missense probably benign
IGL02173:Ace APN 11 105,879,817 (GRCm39) missense probably benign 0.04
IGL02179:Ace APN 11 105,860,615 (GRCm39) missense probably benign 0.16
IGL02331:Ace APN 11 105,862,170 (GRCm39) missense possibly damaging 0.61
IGL02333:Ace APN 11 105,862,273 (GRCm39) missense probably benign
IGL02576:Ace APN 11 105,864,937 (GRCm39) missense probably damaging 1.00
IGL03202:Ace APN 11 105,867,788 (GRCm39) missense probably damaging 1.00
R0403:Ace UTSW 11 105,864,706 (GRCm39) splice site probably null
R0709:Ace UTSW 11 105,872,364 (GRCm39) missense probably damaging 0.97
R1555:Ace UTSW 11 105,865,727 (GRCm39) splice site probably null
R1603:Ace UTSW 11 105,862,925 (GRCm39) missense probably benign 0.23
R1644:Ace UTSW 11 105,875,932 (GRCm39) missense probably damaging 1.00
R1834:Ace UTSW 11 105,876,920 (GRCm39) splice site probably benign
R2074:Ace UTSW 11 105,867,449 (GRCm39) nonsense probably null
R3025:Ace UTSW 11 105,864,919 (GRCm39) splice site probably null
R3176:Ace UTSW 11 105,867,528 (GRCm39) missense probably null 1.00
R3276:Ace UTSW 11 105,867,528 (GRCm39) missense probably null 1.00
R3977:Ace UTSW 11 105,872,664 (GRCm39) missense possibly damaging 0.96
R4506:Ace UTSW 11 105,867,492 (GRCm39) missense probably damaging 0.98
R4598:Ace UTSW 11 105,872,585 (GRCm39) splice site probably null
R4914:Ace UTSW 11 105,870,423 (GRCm39) missense probably damaging 1.00
R4968:Ace UTSW 11 105,872,679 (GRCm39) missense possibly damaging 0.93
R5137:Ace UTSW 11 105,865,652 (GRCm39) missense probably damaging 1.00
R5274:Ace UTSW 11 105,858,863 (GRCm39) missense probably benign
R5332:Ace UTSW 11 105,864,705 (GRCm39) critical splice donor site probably null
R5388:Ace UTSW 11 105,879,284 (GRCm39) missense possibly damaging 0.85
R5425:Ace UTSW 11 105,864,254 (GRCm39) missense probably damaging 1.00
R5640:Ace UTSW 11 105,861,511 (GRCm39) missense probably damaging 1.00
R5838:Ace UTSW 11 105,863,706 (GRCm39) missense probably benign 0.00
R6041:Ace UTSW 11 105,866,134 (GRCm39) missense probably benign 0.27
R6083:Ace UTSW 11 105,876,093 (GRCm39) nonsense probably null
R6106:Ace UTSW 11 105,879,838 (GRCm39) missense probably damaging 1.00
R6225:Ace UTSW 11 105,870,445 (GRCm39) missense possibly damaging 0.51
R6607:Ace UTSW 11 105,863,203 (GRCm39) missense possibly damaging 0.82
R6918:Ace UTSW 11 105,863,769 (GRCm39) missense probably damaging 1.00
R7330:Ace UTSW 11 105,876,887 (GRCm39) missense probably damaging 1.00
R7471:Ace UTSW 11 105,864,308 (GRCm39) missense probably damaging 1.00
R7709:Ace UTSW 11 105,879,663 (GRCm39) missense probably benign 0.01
R7800:Ace UTSW 11 105,876,884 (GRCm39) missense probably damaging 1.00
R7855:Ace UTSW 11 105,863,205 (GRCm39) missense probably benign 0.05
R7947:Ace UTSW 11 105,863,880 (GRCm39) missense possibly damaging 0.81
R8063:Ace UTSW 11 105,862,190 (GRCm39) missense possibly damaging 0.90
R8072:Ace UTSW 11 105,863,785 (GRCm39) missense probably damaging 0.98
R8412:Ace UTSW 11 105,870,092 (GRCm39) missense probably benign
R8544:Ace UTSW 11 105,862,116 (GRCm39) critical splice acceptor site probably null
R8695:Ace UTSW 11 105,875,971 (GRCm39) missense probably benign 0.00
R8731:Ace UTSW 11 105,861,426 (GRCm39) missense possibly damaging 0.93
R8855:Ace UTSW 11 105,861,424 (GRCm39) nonsense probably null
R9087:Ace UTSW 11 105,872,745 (GRCm39) missense probably damaging 1.00
R9149:Ace UTSW 11 105,863,299 (GRCm39) missense possibly damaging 0.57
R9347:Ace UTSW 11 105,864,958 (GRCm39) missense probably damaging 1.00
R9590:Ace UTSW 11 105,876,506 (GRCm39) missense probably benign 0.01
X0018:Ace UTSW 11 105,862,210 (GRCm39) missense probably damaging 1.00
X0063:Ace UTSW 11 105,866,464 (GRCm39) missense probably benign 0.07
Z1177:Ace UTSW 11 105,878,960 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16