Incidental Mutation 'R5153:Aoc1'
ID 395512
Institutional Source Beutler Lab
Gene Symbol Aoc1
Ensembl Gene ENSMUSG00000029811
Gene Name amine oxidase, copper-containing 1
Synonyms 1600012D06Rik, Abp1
MMRRC Submission 042735-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5153 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 48872189-48886122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48885681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 729 (N729D)
Ref Sequence ENSEMBL: ENSMUSP00000128816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031835] [ENSMUST00000162948] [ENSMUST00000167529] [ENSMUST00000204856]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031835
AA Change: N729D

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: N729D

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 44 130 8.8e-26 PFAM
Pfam:Cu_amine_oxidN3 146 246 4.1e-20 PFAM
low complexity region 259 274 N/A INTRINSIC
Pfam:Cu_amine_oxid 305 720 6.1e-132 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161184
Predicted Effect probably benign
Transcript: ENSMUST00000162948
AA Change: N729D

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: N729D

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 44 130 8.8e-26 PFAM
Pfam:Cu_amine_oxidN3 146 246 4.1e-20 PFAM
low complexity region 259 274 N/A INTRINSIC
Pfam:Cu_amine_oxid 305 720 6.1e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167529
AA Change: N729D

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: N729D

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 44 130 2.4e-30 PFAM
Pfam:Cu_amine_oxidN3 146 246 1.5e-23 PFAM
low complexity region 259 274 N/A INTRINSIC
Pfam:Cu_amine_oxid 305 717 1.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204856
SMART Domains Protein: ENSMUSP00000144764
Gene: ENSMUSG00000029811

DomainStartEndE-ValueType
signal peptide 1 49 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 66 152 4.3e-28 PFAM
Pfam:Cu_amine_oxidN3 168 250 8.9e-15 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,073 (GRCm39) C257S unknown Het
4930596D02Rik C A 14: 35,532,212 (GRCm39) R121L probably benign Het
Aadacl4fm1 T A 4: 144,248,837 (GRCm39) M68K probably benign Het
Acin1 A G 14: 54,883,070 (GRCm39) V194A probably benign Het
Acsm1 T C 7: 119,239,950 (GRCm39) I298T possibly damaging Het
Apobr C T 7: 126,186,904 (GRCm39) T20I possibly damaging Het
Arsb A G 13: 94,077,106 (GRCm39) E491G probably benign Het
AW209491 C G 13: 14,811,764 (GRCm39) Q206E probably benign Het
Camsap1 A T 2: 25,823,630 (GRCm39) N1473K probably damaging Het
Casp8 A G 1: 58,884,004 (GRCm39) Q457R probably benign Het
Ccdc154 G A 17: 25,387,315 (GRCm39) A350T probably damaging Het
Cecr2 A G 6: 120,711,521 (GRCm39) E183G probably benign Het
Cep295 A T 9: 15,268,925 (GRCm39) S39T probably benign Het
Cep350 A T 1: 155,811,692 (GRCm39) I416K probably damaging Het
Cidea C T 18: 67,500,490 (GRCm39) T184M probably damaging Het
Cnot10 G A 9: 114,442,803 (GRCm39) A468V probably damaging Het
Cstdc1 A G 2: 148,625,360 (GRCm39) Q98R probably benign Het
Defb22 A T 2: 152,327,722 (GRCm39) N154K unknown Het
Dnah17 A T 11: 117,973,800 (GRCm39) C1915* probably null Het
Dnah2 T C 11: 69,411,759 (GRCm39) T288A possibly damaging Het
Dop1b T A 16: 93,570,891 (GRCm39) M1512K probably damaging Het
Dsp T G 13: 38,366,282 (GRCm39) I572S probably damaging Het
Eepd1 A G 9: 25,498,049 (GRCm39) H378R probably benign Het
Elapor1 A T 3: 108,380,063 (GRCm39) Y349N possibly damaging Het
Emilin2 A G 17: 71,580,497 (GRCm39) M743T possibly damaging Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
F2rl2 A G 13: 95,833,620 (GRCm39) T17A probably benign Het
Fbxl8 T G 8: 105,993,739 (GRCm39) C32G probably damaging Het
Fbxw17 A G 13: 50,573,897 (GRCm39) T38A probably damaging Het
Flii A T 11: 60,607,512 (GRCm39) L882Q possibly damaging Het
Focad T G 4: 88,278,121 (GRCm39) S1197A unknown Het
H1f11-ps A G 19: 47,159,356 (GRCm39) V73A probably damaging Het
Heatr5b G A 17: 79,102,536 (GRCm39) R1281* probably null Het
Khdc3 A G 9: 73,010,720 (GRCm39) Q190R probably benign Het
Krt9 T A 11: 100,082,068 (GRCm39) D244V probably damaging Het
Ldhd T C 8: 112,353,724 (GRCm39) E463G probably benign Het
Lig4 A T 8: 10,023,003 (GRCm39) V259E possibly damaging Het
Luc7l3 A T 11: 94,186,806 (GRCm39) probably benign Het
Man1a2 T C 3: 100,563,579 (GRCm39) E22G probably damaging Het
Mmp23 T G 4: 155,735,797 (GRCm39) D258A probably damaging Het
Msantd2 C T 9: 37,434,509 (GRCm39) R250* probably null Het
Mynn T C 3: 30,665,738 (GRCm39) S457P probably benign Het
Nectin1 C T 9: 43,714,795 (GRCm39) H50Y probably damaging Het
Or10a3b T C 7: 108,444,906 (GRCm39) I104V probably benign Het
Or2d3c C T 7: 106,525,776 (GRCm39) V297M possibly damaging Het
Or4a47 G A 2: 89,665,578 (GRCm39) T237I possibly damaging Het
Or6c6c A G 10: 129,541,026 (GRCm39) N93S probably benign Het
Pfkfb2 G A 1: 130,629,527 (GRCm39) T303M probably damaging Het
Pkhd1l1 A G 15: 44,368,705 (GRCm39) D841G probably benign Het
Plxna4 A T 6: 32,201,094 (GRCm39) probably null Het
Podnl1 C T 8: 84,857,272 (GRCm39) H294Y probably benign Het
Ppig T A 2: 69,579,994 (GRCm39) D509E unknown Het
Ppp1r16a T A 15: 76,578,596 (GRCm39) Y433* probably null Het
Prdm1 A C 10: 44,326,221 (GRCm39) V134G possibly damaging Het
Prx T C 7: 27,217,901 (GRCm39) S940P probably damaging Het
Ptprd C T 4: 75,930,339 (GRCm39) V731I probably damaging Het
Qki A G 17: 10,457,820 (GRCm39) probably null Het
Rassf6 T C 5: 90,754,699 (GRCm39) K206R possibly damaging Het
Rdh16f2 G A 10: 127,712,124 (GRCm39) E194K possibly damaging Het
Rims1 C A 1: 22,522,328 (GRCm39) G457* probably null Het
Ripk1 T G 13: 34,197,279 (GRCm39) I123R probably damaging Het
Rnf111 A T 9: 70,383,422 (GRCm39) S170R probably benign Het
Shc3 A T 13: 51,615,413 (GRCm39) F181L probably damaging Het
Siglec1 A C 2: 130,927,497 (GRCm39) V103G probably damaging Het
Slc26a11 G T 11: 119,268,085 (GRCm39) A488S possibly damaging Het
Smoc2 A T 17: 14,556,841 (GRCm39) T97S probably damaging Het
Son T C 16: 91,451,910 (GRCm39) I219T possibly damaging Het
Sptbn1 A T 11: 30,071,510 (GRCm39) I1474N possibly damaging Het
Syt16 A T 12: 74,269,542 (GRCm39) D127V possibly damaging Het
Tet1 G T 10: 62,714,357 (GRCm39) N479K possibly damaging Het
Thsd7a G A 6: 12,338,654 (GRCm39) A1192V probably benign Het
Tmed3 G A 9: 89,581,825 (GRCm39) R213* probably null Het
Traj57 A G 14: 54,396,016 (GRCm39) probably benign Het
Trpv1 G T 11: 73,129,342 (GRCm39) R86S probably benign Het
Usp48 T A 4: 137,343,673 (GRCm39) F434L possibly damaging Het
Vmn2r59 A C 7: 41,691,834 (GRCm39) probably null Het
Vmn2r71 T A 7: 85,268,430 (GRCm39) I211N possibly damaging Het
Vps13b T A 15: 35,422,599 (GRCm39) D186E probably damaging Het
Vps33a A G 5: 123,696,691 (GRCm39) S321P probably damaging Het
Wdr12 A T 1: 60,133,670 (GRCm39) D19E probably benign Het
Zc3h12c A G 9: 52,037,947 (GRCm39) F278L probably damaging Het
Zpld1 T C 16: 55,067,007 (GRCm39) T183A probably damaging Het
Zswim2 G T 2: 83,770,010 (GRCm39) T68K possibly damaging Het
Other mutations in Aoc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Aoc1 APN 6 48,885,598 (GRCm39) missense possibly damaging 0.92
IGL01115:Aoc1 APN 6 48,883,131 (GRCm39) missense probably damaging 1.00
IGL01626:Aoc1 APN 6 48,883,465 (GRCm39) missense probably damaging 1.00
IGL01891:Aoc1 APN 6 48,885,776 (GRCm39) unclassified probably benign
IGL01908:Aoc1 APN 6 48,883,690 (GRCm39) missense probably damaging 1.00
IGL01919:Aoc1 APN 6 48,885,223 (GRCm39) missense probably damaging 1.00
IGL01960:Aoc1 APN 6 48,885,537 (GRCm39) missense probably benign 0.00
IGL02102:Aoc1 APN 6 48,882,896 (GRCm39) missense probably damaging 0.99
IGL02121:Aoc1 APN 6 48,883,254 (GRCm39) splice site probably null
IGL02229:Aoc1 APN 6 48,882,843 (GRCm39) nonsense probably null
IGL02325:Aoc1 APN 6 48,882,829 (GRCm39) missense possibly damaging 0.46
IGL02626:Aoc1 APN 6 48,883,044 (GRCm39) missense probably benign 0.04
IGL02737:Aoc1 APN 6 48,884,577 (GRCm39) missense probably benign 0.01
IGL03244:Aoc1 APN 6 48,882,756 (GRCm39) missense possibly damaging 0.79
IGL03371:Aoc1 APN 6 48,883,380 (GRCm39) missense probably benign 0.05
R0100:Aoc1 UTSW 6 48,885,538 (GRCm39) missense possibly damaging 0.92
R0835:Aoc1 UTSW 6 48,882,448 (GRCm39) missense probably damaging 1.00
R1240:Aoc1 UTSW 6 48,882,549 (GRCm39) missense probably benign 0.10
R1400:Aoc1 UTSW 6 48,883,645 (GRCm39) missense probably benign
R1400:Aoc1 UTSW 6 48,883,217 (GRCm39) nonsense probably null
R1443:Aoc1 UTSW 6 48,882,379 (GRCm39) missense possibly damaging 0.95
R1447:Aoc1 UTSW 6 48,883,176 (GRCm39) missense probably benign 0.00
R1572:Aoc1 UTSW 6 48,882,720 (GRCm39) missense possibly damaging 0.48
R1850:Aoc1 UTSW 6 48,882,202 (GRCm39) missense probably benign 0.19
R2008:Aoc1 UTSW 6 48,882,831 (GRCm39) missense probably damaging 1.00
R2256:Aoc1 UTSW 6 48,883,374 (GRCm39) missense possibly damaging 0.95
R3429:Aoc1 UTSW 6 48,883,010 (GRCm39) missense probably benign
R3430:Aoc1 UTSW 6 48,883,010 (GRCm39) missense probably benign
R3432:Aoc1 UTSW 6 48,882,778 (GRCm39) missense probably damaging 1.00
R3783:Aoc1 UTSW 6 48,882,589 (GRCm39) missense probably damaging 1.00
R3786:Aoc1 UTSW 6 48,882,589 (GRCm39) missense probably damaging 1.00
R3787:Aoc1 UTSW 6 48,882,589 (GRCm39) missense probably damaging 1.00
R4024:Aoc1 UTSW 6 48,885,203 (GRCm39) missense probably damaging 1.00
R4025:Aoc1 UTSW 6 48,885,203 (GRCm39) missense probably damaging 1.00
R4455:Aoc1 UTSW 6 48,882,401 (GRCm39) missense probably damaging 0.98
R4510:Aoc1 UTSW 6 48,884,740 (GRCm39) missense probably damaging 0.99
R4511:Aoc1 UTSW 6 48,884,740 (GRCm39) missense probably damaging 0.99
R4525:Aoc1 UTSW 6 48,883,609 (GRCm39) missense probably damaging 1.00
R4659:Aoc1 UTSW 6 48,883,010 (GRCm39) missense probably benign
R4876:Aoc1 UTSW 6 48,883,681 (GRCm39) missense possibly damaging 0.78
R5150:Aoc1 UTSW 6 48,883,084 (GRCm39) missense possibly damaging 0.88
R5437:Aoc1 UTSW 6 48,884,684 (GRCm39) missense probably benign 0.00
R6000:Aoc1 UTSW 6 48,884,573 (GRCm39) missense probably benign 0.05
R6112:Aoc1 UTSW 6 48,885,625 (GRCm39) missense probably damaging 1.00
R6195:Aoc1 UTSW 6 48,885,611 (GRCm39) missense probably damaging 1.00
R6252:Aoc1 UTSW 6 48,883,015 (GRCm39) missense probably benign 0.01
R6703:Aoc1 UTSW 6 48,882,648 (GRCm39) missense probably damaging 1.00
R6748:Aoc1 UTSW 6 48,883,228 (GRCm39) missense possibly damaging 0.84
R6765:Aoc1 UTSW 6 48,882,871 (GRCm39) missense probably benign 0.00
R6935:Aoc1 UTSW 6 48,885,161 (GRCm39) missense probably damaging 1.00
R7002:Aoc1 UTSW 6 48,882,810 (GRCm39) missense probably benign
R7066:Aoc1 UTSW 6 48,885,553 (GRCm39) missense probably damaging 1.00
R7120:Aoc1 UTSW 6 48,883,531 (GRCm39) missense probably damaging 1.00
R7234:Aoc1 UTSW 6 48,882,750 (GRCm39) nonsense probably null
R7362:Aoc1 UTSW 6 48,882,345 (GRCm39) missense probably benign 0.18
R7452:Aoc1 UTSW 6 48,885,724 (GRCm39) missense probably benign 0.11
R7618:Aoc1 UTSW 6 48,883,320 (GRCm39) missense possibly damaging 0.71
R7773:Aoc1 UTSW 6 48,883,146 (GRCm39) missense probably benign 0.00
R7821:Aoc1 UTSW 6 48,882,745 (GRCm39) missense probably damaging 1.00
R7837:Aoc1 UTSW 6 48,882,584 (GRCm39) nonsense probably null
R8010:Aoc1 UTSW 6 48,882,582 (GRCm39) missense probably benign 0.40
R8517:Aoc1 UTSW 6 48,883,644 (GRCm39) nonsense probably null
R8774:Aoc1 UTSW 6 48,885,529 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Aoc1 UTSW 6 48,885,529 (GRCm39) missense probably damaging 1.00
R8853:Aoc1 UTSW 6 48,882,994 (GRCm39) missense probably benign 0.00
R9116:Aoc1 UTSW 6 48,885,522 (GRCm39) missense probably damaging 0.97
R9283:Aoc1 UTSW 6 48,882,261 (GRCm39) missense probably benign 0.00
R9371:Aoc1 UTSW 6 48,883,102 (GRCm39) missense probably benign
R9570:Aoc1 UTSW 6 48,882,772 (GRCm39) missense probably damaging 1.00
X0066:Aoc1 UTSW 6 48,885,186 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTTTGTCTCACCCGTAG -3'
(R):5'- TCATGGAAGTCTTTGGCAGG -3'

Sequencing Primer
(F):5'- CGTAGGATCTGGTGGCCTG -3'
(R):5'- GAGTAGAGCCAGCCCTCACATG -3'
Posted On 2016-06-21