Incidental Mutation 'IGL01891:Aoc1'
ID 179255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aoc1
Ensembl Gene ENSMUSG00000029811
Gene Name amine oxidase, copper-containing 1
Synonyms 1600012D06Rik, Abp1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01891
Quality Score
Status
Chromosome 6
Chromosomal Location 48872189-48886122 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 48885776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144764 (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
SMART Domains Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811

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
SMART Domains Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811

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
SMART Domains Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811

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
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 T C 4: 49,383,395 (GRCm39) T53A probably benign Het
Ctsf G A 19: 4,906,595 (GRCm39) R174Q probably damaging Het
Ddo T C 10: 40,523,643 (GRCm39) V211A possibly damaging Het
Ermp1 T C 19: 29,594,002 (GRCm39) I723V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-M3 T G 17: 37,583,608 (GRCm39) I322S probably benign Het
Npc1l1 T C 11: 6,164,280 (GRCm39) T1206A probably damaging Het
Pold3 A T 7: 99,737,352 (GRCm39) probably benign Het
Ripor3 T C 2: 167,825,071 (GRCm39) T813A possibly damaging Het
Suco T C 1: 161,666,371 (GRCm39) N510D probably damaging Het
Tas2r120 A G 6: 132,634,807 (GRCm39) *296W probably null Het
Tox2 G T 2: 163,164,903 (GRCm39) K514N possibly damaging Het
Ubr4 G A 4: 139,163,571 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb1 T A 12: 76,432,435 (GRCm39) F140L probably damaging Het
Zc3h14 T C 12: 98,725,206 (GRCm39) probably benign 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
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
R5153:Aoc1 UTSW 6 48,885,681 (GRCm39) missense probably benign 0.19
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
Posted On 2014-05-07