Incidental Mutation 'R4968:Ace'
ID 384209
Institutional Source Beutler Lab
Gene Symbol Ace
Ensembl Gene ENSMUSG00000020681
Gene Name angiotensin I converting enzyme
Synonyms CD143
MMRRC Submission 042564-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4968 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 105858774-105880790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105872679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 367 (N367S)
Ref Sequence ENSEMBL: ENSMUSP00000001964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001963] [ENSMUST00000001964]
AlphaFold P09470
Predicted Effect probably benign
Transcript: ENSMUST00000001963
AA Change: N947S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681
AA Change: N947S

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 possibly damaging
Transcript: ENSMUST00000001964
AA Change: N367S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001964
Gene: ENSMUSG00000020681
AA Change: N367S

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: N713S
SMART Domains Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681
AA Change: N713S

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A T 11: 58,769,616 (GRCm39) K53* probably null Het
4921513D11Rik T C 17: 79,935,651 (GRCm39) S255P probably benign Het
Agl A T 3: 116,582,175 (GRCm39) N282K probably benign Het
Ahnak C A 19: 8,992,464 (GRCm39) P4583T probably damaging Het
Alpi T C 1: 87,029,247 (GRCm39) D4G probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Aplnr T C 2: 84,967,289 (GRCm39) Y105H probably damaging Het
Arhgap9 G A 10: 127,162,875 (GRCm39) R395K possibly damaging Het
Asah1 A G 8: 41,807,067 (GRCm39) M119T Het
Atp5f1b T C 10: 127,919,856 (GRCm39) F75L probably damaging Het
B4galt6 G T 18: 20,861,026 (GRCm39) N75K possibly damaging Het
Bco1 A T 8: 117,857,833 (GRCm39) H486L probably benign Het
Btaf1 T A 19: 36,947,351 (GRCm39) L480Q probably null Het
Ccdc34 G T 2: 109,871,078 (GRCm39) probably null Het
Cdh19 T C 1: 110,852,958 (GRCm39) S326G probably benign Het
Cep89 A G 7: 35,109,055 (GRCm39) D178G possibly damaging Het
Cyp11b2 A T 15: 74,725,854 (GRCm39) probably null Het
Cyp21a1 A G 17: 35,022,383 (GRCm39) I157T possibly damaging Het
Dcbld2 A G 16: 58,245,074 (GRCm39) D116G probably damaging Het
Ddx5 T C 11: 106,674,953 (GRCm39) Q377R probably damaging Het
Deup1 T C 9: 15,503,724 (GRCm39) D279G probably damaging Het
F11 G A 8: 45,698,770 (GRCm39) A458V probably benign Het
Fhad1 C A 4: 141,645,618 (GRCm39) G326W probably damaging Het
Fhit C T 14: 10,421,522 (GRCm38) V26M probably damaging Het
Gjb5 A T 4: 127,250,015 (GRCm39) V43E probably damaging Het
Grtp1 A T 8: 13,242,184 (GRCm39) I75N probably damaging Het
Hmcn1 A G 1: 150,533,221 (GRCm39) I3022T possibly damaging Het
Hsp90ab1 T C 17: 45,881,962 (GRCm39) T166A probably benign Het
Ift70b T C 2: 75,768,391 (GRCm39) I121V probably benign Het
Iho1 C T 9: 108,289,713 (GRCm39) V170M probably benign Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Kcnk10 T C 12: 98,401,161 (GRCm39) I491V probably benign Het
Kcp A T 6: 29,497,628 (GRCm39) C519* probably null Het
Lcmt2 T C 2: 120,970,217 (GRCm39) T69A probably benign Het
Lmf1 A G 17: 25,804,592 (GRCm39) Y90C probably damaging Het
Lpp A G 16: 24,798,064 (GRCm39) D612G probably damaging Het
Lrfn5 C A 12: 61,886,461 (GRCm39) S83Y probably damaging Het
Lrp1b T C 2: 40,592,719 (GRCm39) probably null Het
Lrp1b C T 2: 41,679,074 (GRCm39) C6Y probably damaging Het
Lrrc8c A G 5: 105,754,993 (GRCm39) D256G probably damaging Het
Mphosph10 A G 7: 64,032,656 (GRCm39) Y478H probably damaging Het
Mpp2 T C 11: 101,955,124 (GRCm39) H167R probably benign Het
Mtss1 A G 15: 58,815,767 (GRCm39) S598P probably damaging Het
Myh10 A G 11: 68,684,049 (GRCm39) E1154G probably damaging Het
Myo10 T C 15: 25,808,270 (GRCm39) V1218A probably damaging Het
Myo19 A G 11: 84,792,328 (GRCm39) K599R probably damaging Het
Neurl4 T C 11: 69,798,134 (GRCm39) M771T probably damaging Het
Nlrc4 A G 17: 74,753,936 (GRCm39) V149A probably benign Het
Nup133 A T 8: 124,641,935 (GRCm39) S843T probably benign Het
Or2y1c T C 11: 49,361,358 (GRCm39) C127R probably damaging Het
Or51k1 T C 7: 103,661,777 (GRCm39) N44S probably damaging Het
P3h2 A G 16: 25,811,412 (GRCm39) probably null Het
Piezo2 A T 18: 63,278,042 (GRCm39) Y287* probably null Het
Prob1 T C 18: 35,785,605 (GRCm39) Y883C probably damaging Het
Pxdn T A 12: 30,050,011 (GRCm39) H506Q probably benign Het
Ripor3 T C 2: 167,827,037 (GRCm39) D658G probably benign Het
Rufy1 T A 11: 50,301,434 (GRCm39) I333L probably benign Het
Selenok T A 14: 29,692,064 (GRCm39) V34E probably benign Het
Selplg T C 5: 113,957,787 (GRCm39) E173G possibly damaging Het
Septin10 A G 10: 59,016,943 (GRCm39) F194L probably damaging Het
Sptbn2 A T 19: 4,779,230 (GRCm39) probably null Het
St6galnac6 C T 2: 32,498,098 (GRCm39) P6S probably benign Het
Syngr2 T C 11: 117,704,296 (GRCm39) Y194H probably damaging Het
Thbs4 A G 13: 92,894,576 (GRCm39) I649T possibly damaging Het
Triobp T A 15: 78,850,816 (GRCm39) N323K probably benign Het
Tuba8 T A 6: 121,197,548 (GRCm39) L70Q probably damaging Het
Vmn2r61 A G 7: 41,949,478 (GRCm39) T633A probably benign Het
Zfp280b G T 10: 75,875,188 (GRCm39) V356L probably damaging Het
Zswim4 A T 8: 84,944,001 (GRCm39) V746D probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CAGGTCAGTGAAGCCAAGAC -3'
(R):5'- TCACTCCAGTTGAGGGGATAG -3'

Sequencing Primer
(F):5'- ATGGGAGGGCAGATACTCTCTC -3'
(R):5'- GGGATAGCCACAGAGCCATAC -3'
Posted On 2016-04-27