Incidental Mutation 'IGL02229:Aoc1'
ID 285431
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 # IGL02229
Quality Score
Status
Chromosome 6
Chromosomal Location 48872189-48886122 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 48882843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 240 (Q240*)
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 null
Transcript: ENSMUST00000031835
AA Change: Q240*
SMART Domains Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: Q240*

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 null
Transcript: ENSMUST00000162948
AA Change: Q240*
SMART Domains Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: Q240*

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 null
Transcript: ENSMUST00000167529
AA Change: Q240*
SMART Domains Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: Q240*

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (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
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
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 2015-04-16