Incidental Mutation 'R7800:Ace'
ID 600488
Institutional Source Beutler Lab
Gene Symbol Ace
Ensembl Gene ENSMUSG00000020681
Gene Name angiotensin I converting enzyme
Synonyms CD143
MMRRC Submission 045855-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7800 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 105858774-105880790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105876884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1122 (F1122S)
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: F1122S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681
AA Change: F1122S

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 damaging
Transcript: ENSMUST00000001964
AA Change: F542S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001964
Gene: ENSMUSG00000020681
AA Change: F542S

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
SMART Domains Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681
AA Change: F888S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,078,698 (GRCm39) D1264G probably benign Het
Actr10 T G 12: 70,990,283 (GRCm39) Y112D probably benign Het
Cacnb1 T G 11: 97,900,121 (GRCm39) I346L possibly damaging Het
Camsap2 T C 1: 136,209,639 (GRCm39) T607A probably damaging Het
Cby3 T C 11: 50,250,175 (GRCm39) F32S probably damaging Het
Cers5 G T 15: 99,634,122 (GRCm39) H409N probably benign Het
Ces1h A T 8: 94,106,322 (GRCm39) L11H Het
Clcnkb T C 4: 141,141,833 (GRCm39) Y51C probably benign Het
Cnnm2 A G 19: 46,866,420 (GRCm39) E856G probably benign Het
Cnot1 A G 8: 96,491,690 (GRCm39) V378A probably benign Het
Crisp4 A C 1: 18,198,973 (GRCm39) S154A probably benign Het
Disp1 C T 1: 182,880,550 (GRCm39) R241Q probably benign Het
Ermard G A 17: 15,277,065 (GRCm39) R429H probably benign Het
Extl1 C T 4: 134,098,929 (GRCm39) G34D probably benign Het
Gen1 T C 12: 11,291,863 (GRCm39) D707G probably benign Het
H1f3 C A 13: 23,739,541 (GRCm39) T93N possibly damaging Het
Igkv5-37 A C 6: 69,940,499 (GRCm39) S48R possibly damaging Het
Ilvbl C T 10: 78,419,809 (GRCm39) A571V possibly damaging Het
Itgb1 A G 8: 129,439,718 (GRCm39) K136E possibly damaging Het
Lhx8 A G 3: 154,027,284 (GRCm39) F253L probably damaging Het
Naa25 A G 5: 121,562,594 (GRCm39) T459A possibly damaging Het
Nr3c2 A G 8: 77,636,621 (GRCm39) Y574C probably damaging Het
Nrxn1 C T 17: 91,396,635 (GRCm39) probably benign Het
Ntrk3 T A 7: 77,952,488 (GRCm39) R576S probably benign Het
Nup210l A G 3: 90,041,904 (GRCm39) Y403C probably damaging Het
Or2ag12 A G 7: 106,276,781 (GRCm39) V304A probably benign Het
Or8b53 T G 9: 38,667,914 (GRCm39) L310W probably damaging Het
Otogl T A 10: 107,722,376 (GRCm39) Y326F probably damaging Het
Pcdha1 T A 18: 37,064,426 (GRCm39) D363E probably damaging Het
Pcdhb3 T A 18: 37,434,974 (GRCm39) N313K probably benign Het
Pcdhb9 A C 18: 37,534,602 (GRCm39) S199R probably benign Het
Pde4dip C T 3: 97,622,599 (GRCm39) D1537N probably damaging Het
Pinx1 A G 14: 64,156,984 (GRCm39) K304E probably benign Het
Pnlip T C 19: 58,670,134 (GRCm39) V458A probably benign Het
Polr3a C A 14: 24,534,455 (GRCm39) M60I probably null Het
Qrich2 G T 11: 116,347,686 (GRCm39) S1046* probably null Het
Rigi T C 4: 40,211,618 (GRCm39) E650G probably benign Het
Rps6ka5 G A 12: 100,524,824 (GRCm39) P638S probably damaging Het
Slc6a13 T A 6: 121,298,658 (GRCm39) N158K probably damaging Het
Sord T C 2: 122,089,561 (GRCm39) V187A probably damaging Het
Sult2a2 A G 7: 13,468,710 (GRCm39) T59A probably benign Het
Thbs2 T C 17: 14,896,558 (GRCm39) D777G probably damaging Het
Tmed9 A G 13: 55,743,345 (GRCm39) D159G probably benign Het
Trbc1 A G 6: 41,516,195 (GRCm39) I142V Het
Usp17ld A G 7: 102,900,041 (GRCm39) V297A probably damaging Het
Vmn1r167 A T 7: 23,204,069 (GRCm39) *316R probably null Het
Wdr59 C A 8: 112,248,570 (GRCm39) R15L Het
Zfp189 C T 4: 49,529,367 (GRCm39) P157S possibly damaging Het
Zfp407 C T 18: 84,578,800 (GRCm39) G771D 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
IGL02333:Ace APN 11 105,862,273 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GTGGTTGTACAGGGACACAG -3'
(R):5'- CCAAGGAACATTTAAAGAAACGGTC -3'

Sequencing Primer
(F):5'- TTGTACAGGGACACAGCATGC -3'
(R):5'- CATTTAAAGAAACGGTCTTGGTAGCG -3'
Posted On 2019-11-26