Incidental Mutation 'IGL02333:Ace'
ID 288763
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 # IGL02333
Quality Score
Status
Chromosome 11
Chromosomal Location 105858774-105880790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105862273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 276 (V276I)
Ref Sequence ENSEMBL: ENSMUSP00000001963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001963] [ENSMUST00000001964]
AlphaFold P09470
Predicted Effect probably benign
Transcript: ENSMUST00000001963
AA Change: V276I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681
AA Change: V276I

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: V42I
SMART Domains Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681
AA Change: V42I

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: 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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,397,804 (GRCm39) W289R probably damaging Het
Alpk2 A G 18: 65,482,551 (GRCm39) S19P probably damaging Het
Ano3 T C 2: 110,527,544 (GRCm39) probably benign Het
Atxn1 G A 13: 45,720,680 (GRCm39) S405F probably damaging Het
Atxn2 A G 5: 121,919,450 (GRCm39) Y386C probably damaging Het
Bach2 T A 4: 32,575,334 (GRCm39) L643* probably null Het
Ccl22 T A 8: 95,476,507 (GRCm39) L91Q probably damaging Het
Cdc40 A G 10: 40,743,855 (GRCm39) Y81H probably benign Het
Col5a3 C A 9: 20,710,602 (GRCm39) R549M unknown Het
Eif3e A T 15: 43,129,533 (GRCm39) N198K probably benign Het
Emp2 A G 16: 10,102,375 (GRCm39) Y146H probably damaging Het
Impg1 G A 9: 80,322,808 (GRCm39) L66F possibly damaging Het
Itsn1 A G 16: 91,617,564 (GRCm39) probably benign Het
Khdrbs3 T C 15: 68,921,243 (GRCm39) Y187H probably damaging Het
Klhdc7a T A 4: 139,694,467 (GRCm39) H160L probably benign Het
Klhl2 G A 8: 65,212,784 (GRCm39) R252W probably damaging Het
Krba1 C T 6: 48,390,021 (GRCm39) T595I probably damaging Het
Myo9b G T 8: 71,811,637 (GRCm39) D1887Y possibly damaging Het
Olfm4 C T 14: 80,259,210 (GRCm39) T453I probably damaging Het
Sin3a A G 9: 57,014,843 (GRCm39) N688S possibly damaging Het
Slc47a1 A G 11: 61,260,950 (GRCm39) V150A probably damaging Het
Sptbn4 A G 7: 27,063,724 (GRCm39) L2234P probably damaging Het
Trpm4 C T 7: 44,971,539 (GRCm39) V166M possibly damaging Het
Usp54 A T 14: 20,639,463 (GRCm39) F156L probably damaging Het
Vmn2r32 A T 7: 7,467,143 (GRCm39) F795Y probably 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
IGL02556:Ace APN 11 105,863,353 (GRCm39) missense probably damaging 1.00
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