Incidental Mutation 'IGL01105:Ace'
ID52303
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 #IGL01105
Quality Score
Status
Chromosome11
Chromosomal Location105967945-105989964 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 105972059 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 302 (V302E)
Ref Sequence ENSEMBL: ENSMUSP00000001963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001963] [ENSMUST00000001964]
Predicted Effect probably damaging
Transcript: ENSMUST00000001963
AA Change: V302E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681
AA Change: V302E

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: V68E
SMART Domains Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681
AA Change: V68E

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcy T C 2: 155,067,361 D86G probably benign Het
Antxr2 G T 5: 98,004,943 probably benign Het
Cadps2 A G 6: 23,321,700 probably benign Het
Cdhr4 C T 9: 107,995,861 probably benign Het
Cdkn2c C T 4: 109,661,626 V44I probably damaging Het
Chodl T C 16: 78,941,263 Y40H probably damaging Het
Heatr3 A G 8: 88,161,893 D391G probably benign Het
Hephl1 T C 9: 15,089,024 T311A possibly damaging Het
Itpr1 G A 6: 108,381,333 S620N probably benign Het
Kank1 T A 19: 25,424,316 S1096T possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Krtap9-5 A G 11: 99,948,633 I53M unknown Het
Limk2 G A 11: 3,355,475 probably benign Het
Lrig2 G A 3: 104,464,168 R382* probably null Het
Mamdc2 T A 19: 23,331,002 D512V probably benign Het
March1 A T 8: 66,418,877 T353S possibly damaging Het
Mrc2 A G 11: 105,328,741 D312G probably damaging Het
Myh9 C T 15: 77,781,478 M627I probably benign Het
Nipa2 A T 7: 55,933,445 I184N probably damaging Het
Npy1r A G 8: 66,704,776 K246R probably benign Het
Pank4 C T 4: 154,972,465 probably benign Het
Pcdh12 T A 18: 38,275,347 E1035D probably damaging Het
Pias2 T A 18: 77,133,156 D362E probably damaging Het
Pkd1l3 G T 8: 109,662,241 V1872L possibly damaging Het
Postn T G 3: 54,362,710 I70S probably damaging Het
Ppef2 A G 5: 92,249,196 S107P possibly damaging Het
Prl3c1 T C 13: 27,202,425 V131A probably benign Het
Qsox2 A G 2: 26,209,685 V609A probably benign Het
Rhebl1 C A 15: 98,878,498 E139D probably benign Het
Ryr3 A G 2: 112,751,805 S2848P probably damaging Het
Scd2 T A 19: 44,298,058 I109N probably benign Het
Sim1 A G 10: 50,981,534 H460R probably damaging Het
Slc35f3 C A 8: 126,298,814 P10Q probably damaging Het
Slf1 T C 13: 77,100,912 probably benign Het
Stk10 G T 11: 32,577,740 V163L probably benign Het
Tssk6 A G 8: 69,902,812 T169A probably benign Het
Usp28 T A 9: 49,010,250 V256E probably damaging Het
Vmn2r77 A T 7: 86,811,664 I733F probably damaging Het
Other mutations in Ace
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Ace APN 11 105979550 missense probably benign 0.21
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
IGL02556:Ace APN 11 105972527 missense probably damaging 1.00
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 On2013-06-21