Incidental Mutation 'R7002:Aoc1'
ID 544593
Institutional Source Beutler Lab
Gene Symbol Aoc1
Ensembl Gene ENSMUSG00000029811
Gene Name amine oxidase, copper-containing 1
Synonyms 1600012D06Rik, Abp1
MMRRC Submission 045107-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7002 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48872189-48886122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48882810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 229 (S229G)
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: S229G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: S229G

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: ENSMUST00000162948
AA Change: S229G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: S229G

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: S229G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: S229G

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 silent
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,832,390 (GRCm39) S1308P probably damaging Het
Abl2 A T 1: 156,386,703 (GRCm39) R29W probably damaging Het
Adam6b C A 12: 113,453,327 (GRCm39) S48* probably null Het
Adamts18 T A 8: 114,501,922 (GRCm39) D313V possibly damaging Het
Apol10a G A 15: 77,369,046 (GRCm39) R15H possibly damaging Het
Bend4 T A 5: 67,555,602 (GRCm39) T535S probably benign Het
Blm T C 7: 80,119,501 (GRCm39) K1024R probably benign Het
Brca2 T C 5: 150,463,383 (GRCm39) V1049A probably benign Het
Cerk T C 15: 86,040,795 (GRCm39) Y188C possibly damaging Het
Cic C T 7: 24,971,621 (GRCm39) R451C probably damaging Het
Col18a1 A T 10: 77,002,177 (GRCm39) V10E unknown Het
Cplx1 T A 5: 108,668,182 (GRCm39) K58M probably damaging Het
Crybg1 T A 10: 43,874,831 (GRCm39) D759V probably damaging Het
Cwc25 A T 11: 97,638,897 (GRCm39) N342K probably damaging Het
Dab2 A T 15: 6,464,846 (GRCm39) T566S probably benign Het
Depdc5 G A 5: 33,034,502 (GRCm39) probably null Het
Dip2b T A 15: 100,058,346 (GRCm39) N408K probably benign Het
Dnah12 T C 14: 26,598,955 (GRCm39) I3631T probably damaging Het
Dnase1 A G 16: 3,857,410 (GRCm39) I236V possibly damaging Het
Duox1 C T 2: 122,150,358 (GRCm39) Q196* probably null Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Erich5 C T 15: 34,471,508 (GRCm39) L246F probably damaging Het
Frmpd1 C T 4: 45,284,200 (GRCm39) A1007V probably benign Het
Fsip2 T A 2: 82,819,687 (GRCm39) I5140N possibly damaging Het
Gan T C 8: 117,922,586 (GRCm39) C440R possibly damaging Het
Garnl3 T A 2: 32,944,205 (GRCm39) H73L possibly damaging Het
Gid8 T G 2: 180,355,096 (GRCm39) M34R possibly damaging Het
Gjd4 C A 18: 9,280,960 (GRCm39) L39F possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grhpr T C 4: 44,990,427 (GRCm39) S306P probably damaging Het
H2bc21 A G 3: 96,128,689 (GRCm39) I70V probably benign Het
Hdac4 T G 1: 91,896,083 (GRCm39) K729T possibly damaging Het
Igfbp2 C T 1: 72,888,804 (GRCm39) H85Y probably damaging Het
Igkv4-61 T G 6: 69,394,373 (GRCm39) I13L probably benign Het
Il18r1 G A 1: 40,514,013 (GRCm39) S73N probably benign Het
Immt T C 6: 71,838,024 (GRCm39) V244A probably damaging Het
Irs1 T C 1: 82,265,981 (GRCm39) Y745C probably benign Het
Itpr3 T C 17: 27,329,554 (GRCm39) V1526A probably benign Het
Jrkl A T 9: 13,245,526 (GRCm39) I45K probably damaging Het
Lamp3 G T 16: 19,474,172 (GRCm39) Q401K possibly damaging Het
Lrrfip1 T A 1: 91,043,180 (GRCm39) H528Q probably benign Het
Ltn1 A T 16: 87,220,361 (GRCm39) D245E probably benign Het
Mmut T A 17: 41,252,274 (GRCm39) I272N possibly damaging Het
Mnat1 T C 12: 73,277,479 (GRCm39) probably benign Het
Mprip A C 11: 59,652,016 (GRCm39) M1907L probably benign Het
Nfu1 C A 6: 86,993,254 (GRCm39) H131Q probably benign Het
Nup188 T A 2: 30,213,580 (GRCm39) S670R probably damaging Het
Or5b120 A G 19: 13,480,039 (GRCm39) N111D probably benign Het
Or8k40 T C 2: 86,585,025 (GRCm39) D19G probably benign Het
Pals2 C T 6: 50,139,642 (GRCm39) P116L probably benign Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pbrm1 T A 14: 30,786,777 (GRCm39) D631E probably benign Het
Prss40 A T 1: 34,591,481 (GRCm39) probably null Het
Rnf13 A G 3: 57,741,033 (GRCm39) N274S probably damaging Het
Rtl1 T A 12: 109,560,381 (GRCm39) Y486F probably damaging Het
Sec14l3 A T 11: 4,025,263 (GRCm39) H291L possibly damaging Het
Senp5 A G 16: 31,802,593 (GRCm39) S532P probably damaging Het
Sepsecs T C 5: 52,804,550 (GRCm39) probably null Het
Serpina1e T C 12: 103,914,338 (GRCm39) I329V probably benign Het
Slc10a4-ps T A 5: 72,743,763 (GRCm39) probably null Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,773 (GRCm39) unknown Het
Smc5 A G 19: 23,209,247 (GRCm39) V639A probably benign Het
Speg T A 1: 75,399,912 (GRCm39) V2453E probably damaging Het
Syt2 T A 1: 134,671,842 (GRCm39) F207I probably damaging Het
Tchp C T 5: 114,846,857 (GRCm39) S48L probably benign Het
Trim12a A G 7: 103,953,383 (GRCm39) S243P possibly damaging Het
Ttn T C 2: 76,628,561 (GRCm39) E14533G probably damaging Het
Vmn1r50 T A 6: 90,084,819 (GRCm39) M188K probably benign Het
Vps11 G A 9: 44,266,376 (GRCm39) T437I probably damaging Het
Xrn1 C T 9: 95,929,843 (GRCm39) T1498I probably benign Het
Zfp236 A G 18: 82,709,701 (GRCm39) probably null Het
Zfp316 T C 5: 143,249,110 (GRCm39) D175G unknown Het
Zmynd11 A G 13: 9,744,366 (GRCm39) L256P probably 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
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
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'- TGCTGAACAGAGCCATCAC -3'
(R):5'- TGACTGGCGTGTGGAATTCC -3'

Sequencing Primer
(F):5'- AGAGCCATCACGCCTCTG -3'
(R):5'- CCCGGGGCTTGTAGGAAGAG -3'
Posted On 2019-05-13