Incidental Mutation 'R7773:Aoc1'
ID 598704
Institutional Source Beutler Lab
Gene Symbol Aoc1
Ensembl Gene ENSMUSG00000029811
Gene Name amine oxidase, copper-containing 1
Synonyms 1600012D06Rik, Abp1
MMRRC Submission 045829-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7773 (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 48883146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 341 (I341V)
Ref Sequence ENSEMBL: ENSMUSP00000031835 (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: I341V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000031835
Gene: ENSMUSG00000029811
AA Change: I341V

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: I341V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124085
Gene: ENSMUSG00000029811
AA Change: I341V

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: I341V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000128816
Gene: ENSMUSG00000029811
AA Change: I341V

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,206,180 (GRCm39) I336T probably benign Het
4930519P11Rik T C 2: 154,455,107 (GRCm39) Y84C unknown Het
4930568D16Rik C T 2: 35,244,606 (GRCm39) G249S probably damaging Het
AAdacl4fm3 A T 4: 144,430,047 (GRCm39) L314Q probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agbl1 T A 7: 76,348,585 (GRCm39) V894E unknown Het
Amigo3 T C 9: 107,931,867 (GRCm39) L430P probably benign Het
Bod1l A G 5: 41,990,055 (GRCm39) S223P probably benign Het
Cacnb3 T C 15: 98,537,819 (GRCm39) probably null Het
Ccdc63 G T 5: 122,247,335 (GRCm39) N503K probably damaging Het
Ccdc83 T A 7: 89,879,120 (GRCm39) I225F probably damaging Het
Cd200r1 A G 16: 44,610,050 (GRCm39) T90A possibly damaging Het
Cd8a A G 6: 71,350,799 (GRCm39) N88S probably benign Het
Cep170 A G 1: 176,567,642 (GRCm39) V152A Het
Chid1 T C 7: 141,109,518 (GRCm39) M123V probably benign Het
Cnnm4 T C 1: 36,538,603 (GRCm39) V595A probably benign Het
Coro7 A G 16: 4,449,870 (GRCm39) L630P probably damaging Het
Cpvl A G 6: 53,908,890 (GRCm39) probably null Het
Edem3 A T 1: 151,687,347 (GRCm39) K762* probably null Het
Elp6 T A 9: 110,141,627 (GRCm39) probably null Het
Emilin3 A T 2: 160,752,718 (GRCm39) Y77* probably null Het
Fam234b T A 6: 135,220,912 (GRCm39) I641N probably benign Het
Farsa T C 8: 85,590,781 (GRCm39) probably null Het
Foxf2 T C 13: 31,811,182 (GRCm39) S374P probably benign Het
Gm11596 A T 11: 99,683,667 (GRCm39) I151N unknown Het
Gm9817 C T 13: 45,232,427 (GRCm39) Q77* probably null Het
Gon4l A G 3: 88,803,102 (GRCm39) K1238E probably benign Het
H13 A G 2: 152,537,431 (GRCm39) Y292C probably damaging Het
Hip1r A G 5: 124,139,504 (GRCm39) N928S probably benign Het
Iqcf4 T C 9: 106,445,812 (GRCm39) N112D probably benign Het
Jak3 A C 8: 72,131,686 (GRCm39) T125P probably benign Het
Krt7 A C 15: 101,311,913 (GRCm39) K124Q possibly damaging Het
Ldc1 T C 4: 130,114,169 (GRCm39) N83D probably damaging Het
Lrrc66 G A 5: 73,764,664 (GRCm39) S793F probably damaging Het
Mycbp2 C T 14: 103,485,840 (GRCm39) V1074I probably damaging Het
Nckap5 T C 1: 125,954,581 (GRCm39) D657G probably benign Het
Nt5el A G 13: 105,218,793 (GRCm39) I42M probably damaging Het
Or5b113 T A 19: 13,342,598 (GRCm39) V202E probably benign Het
Or8k21 T C 2: 86,145,034 (GRCm39) I199V probably benign Het
Osbpl7 A G 11: 96,941,548 (GRCm39) S24G probably benign Het
Pcm1 G T 8: 41,762,610 (GRCm39) E1385* probably null Het
Poc5 A G 13: 96,547,143 (GRCm39) T469A probably damaging Het
Ppp3ca A G 3: 136,596,222 (GRCm39) T296A probably benign Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rnf149 A C 1: 39,604,299 (GRCm39) M188R possibly damaging Het
Rpl10l T C 12: 66,331,041 (GRCm39) I31V probably benign Het
Serinc5 T C 13: 92,797,592 (GRCm39) S32P probably damaging Het
Sirt1 T A 10: 63,162,562 (GRCm39) K137M possibly damaging Het
Smc4 A G 3: 68,923,496 (GRCm39) Y251C probably damaging Het
Sod3 A C 5: 52,525,643 (GRCm39) E114A possibly damaging Het
Tgfbr3 A G 5: 107,288,368 (GRCm39) V431A probably benign Het
Tlr4 T C 4: 66,757,836 (GRCm39) S210P probably damaging Het
Trub2 G T 2: 29,676,520 (GRCm39) T70N probably benign Het
Tsga10 A T 1: 37,874,323 (GRCm39) C159S unknown Het
Vmn1r15 A T 6: 57,235,644 (GRCm39) I171F probably benign Het
Vmn2r50 T A 7: 9,771,562 (GRCm39) H713L possibly damaging Het
Zcchc14 T C 8: 122,378,514 (GRCm39) S43G unknown Het
Zfp638 T C 6: 83,956,196 (GRCm39) I1601T 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
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
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'- AGGAAGTGGTTCTCGAGGAC -3'
(R):5'- AAAGTAGCGGTCTCTGGACAG -3'

Sequencing Primer
(F):5'- TGGTTCTCGAGGACCCACTG -3'
(R):5'- TAGCGGTCTCTGGACAGTCAATAC -3'
Posted On 2019-11-26