Incidental Mutation 'R5770:Aoc3'
ID 446512
Institutional Source Beutler Lab
Gene Symbol Aoc3
Ensembl Gene ENSMUSG00000019326
Gene Name amine oxidase, copper containing 3
Synonyms semicarbazide-sensitive amine oxidase, SSAO, VAP1
MMRRC Submission 043370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R5770 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101221432-101230256 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 101222578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 271 (Y271*)
Ref Sequence ENSEMBL: ENSMUSP00000099394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017316] [ENSMUST00000041095] [ENSMUST00000103105] [ENSMUST00000107264]
AlphaFold O70423
Predicted Effect probably null
Transcript: ENSMUST00000017316
AA Change: Y228*
SMART Domains Protein: ENSMUSP00000017316
Gene: ENSMUSG00000019326
AA Change: Y228*

DomainStartEndE-ValueType
Pfam:Cu_amine_oxidN2 23 109 4.3e-24 PFAM
Pfam:Cu_amine_oxidN3 126 226 1.4e-28 PFAM
Pfam:Cu_amine_oxid 251 444 4.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041095
SMART Domains Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651

DomainStartEndE-ValueType
transmembrane domain 5 26 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 62 148 1.7e-29 PFAM
Pfam:Cu_amine_oxidN3 165 263 5.7e-22 PFAM
Pfam:Cu_amine_oxid 309 718 3.7e-110 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000103105
AA Change: Y271*
SMART Domains Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326
AA Change: Y271*

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 66 152 1.7e-29 PFAM
Pfam:Cu_amine_oxidN3 169 269 1.5e-31 PFAM
low complexity region 284 298 N/A INTRINSIC
Pfam:Cu_amine_oxid 314 721 5.3e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107264
SMART Domains Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651

DomainStartEndE-ValueType
transmembrane domain 5 26 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 62 148 8.2e-24 PFAM
Pfam:Cu_amine_oxidN3 165 263 9.9e-20 PFAM
Pfam:Cu_amine_oxid 308 605 5.9e-86 PFAM
Pfam:Cu_amine_oxid 600 694 7.3e-26 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 93% (64/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous null mice display decreased lymphocyte migration and homing in response to inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik T C 12: 20,865,460 (GRCm39) noncoding transcript Het
Abhd8 A G 8: 71,909,972 (GRCm39) V392A probably benign Het
Alpk3 A G 7: 80,728,310 (GRCm39) E480G probably benign Het
Ankfy1 C G 11: 72,651,082 (GRCm39) H1011D probably damaging Het
Bcl9 T C 3: 97,122,491 (GRCm39) I103V probably benign Het
Cgnl1 C T 9: 71,552,769 (GRCm39) probably null Het
Cyp2c23 T A 19: 44,010,018 (GRCm39) D109V probably damaging Het
Cyp2j13 A T 4: 95,965,669 (GRCm39) W13R probably benign Het
D630003M21Rik T C 2: 158,037,500 (GRCm39) probably benign Het
Desi2 A T 1: 178,084,061 (GRCm39) probably benign Het
Dll3 T C 7: 27,998,434 (GRCm39) E177G possibly damaging Het
Ern2 C T 7: 121,779,130 (GRCm39) G238D possibly damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm6133 A G 18: 78,393,464 (GRCm39) K153E probably benign Het
Gpr68 A T 12: 100,845,080 (GRCm39) Y155N probably benign Het
Hcrtr2 T A 9: 76,166,948 (GRCm39) I130F probably damaging Het
Hk1 T C 10: 62,122,228 (GRCm39) K489R probably benign Het
Ints13 T C 6: 146,456,571 (GRCm39) N425S probably damaging Het
Itpkc T C 7: 26,912,413 (GRCm39) D578G probably damaging Het
Kcns3 A G 12: 11,142,250 (GRCm39) S150P probably benign Het
Khdrbs3 T A 15: 68,921,312 (GRCm39) probably null Het
Kif11 A G 19: 37,379,313 (GRCm39) I335V probably benign Het
Lrrn4 C G 2: 132,714,076 (GRCm39) C290S probably damaging Het
Macrod2 T C 2: 141,074,102 (GRCm39) probably benign Het
Mgam A G 6: 40,646,738 (GRCm39) N688S probably benign Het
Myh8 G A 11: 67,188,026 (GRCm39) E933K probably damaging Het
Nat8f5 T C 6: 85,794,657 (GRCm39) Y101C probably damaging Het
Nhlrc1 A G 13: 47,168,188 (GRCm39) V23A probably benign Het
Nkx2-3 T A 19: 43,602,972 (GRCm39) F193I probably damaging Het
Nlrp4b T A 7: 10,449,414 (GRCm39) V172E probably benign Het
Nmrk1 G T 19: 18,622,438 (GRCm39) R172S probably benign Het
Nudcd3 T C 11: 6,063,286 (GRCm39) D201G probably damaging Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or10g9b C T 9: 39,917,634 (GRCm39) V204I probably benign Het
Or13a18 A G 7: 140,190,856 (GRCm39) Y259C probably damaging Het
Or2t44 G A 11: 58,677,420 (GRCm39) R120H probably benign Het
Or2y14 A G 11: 49,405,419 (GRCm39) E318G unknown Het
Or4c12b T A 2: 89,646,893 (GRCm39) D68E probably damaging Het
Or56a3 A T 7: 104,740,102 (GRCm39) I248N probably damaging Het
Or5ac23 A T 16: 59,149,514 (GRCm39) Y119* probably null Het
Pcdh15 T A 10: 74,021,177 (GRCm39) Y130* probably null Het
Pcdh9 G A 14: 94,124,379 (GRCm39) T597I probably damaging Het
Pcdhb19 A G 18: 37,631,090 (GRCm39) N295S possibly damaging Het
Pcnx3 T C 19: 5,731,607 (GRCm39) probably benign Het
Pdzph1 A T 17: 59,186,146 (GRCm39) I1215N probably damaging Het
Phf21a C T 2: 92,182,199 (GRCm39) T405I possibly damaging Het
Pkd1l2 C A 8: 117,781,757 (GRCm39) G763W probably damaging Het
Prox2 A G 12: 85,134,154 (GRCm39) F591L probably benign Het
Robo3 T A 9: 37,330,497 (GRCm39) H1033L possibly damaging Het
Sdha A T 13: 74,471,239 (GRCm39) C222* probably null Het
Sec16a T C 2: 26,304,402 (GRCm39) D2303G probably damaging Het
Shoc1 T C 4: 59,092,466 (GRCm39) I238M probably benign Het
Slc16a5 A G 11: 115,363,604 (GRCm39) K422E possibly damaging Het
Slc22a30 A T 19: 8,363,891 (GRCm39) M232K probably damaging Het
Slc35b3 A T 13: 39,121,734 (GRCm39) F300I probably damaging Het
Spata2l A G 8: 123,962,459 (GRCm39) V34A probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tecta T A 9: 42,256,885 (GRCm39) Q1597L possibly damaging Het
Tgfb1i1 A T 7: 127,847,719 (GRCm39) probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,807 (GRCm39) T234A probably benign Het
Usp20 A G 2: 30,907,520 (GRCm39) Y684C probably damaging Het
Zc3h4 T A 7: 16,163,536 (GRCm39) M585K unknown Het
Zfp292 A G 4: 34,806,747 (GRCm39) I2099T probably damaging Het
Other mutations in Aoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01488:Aoc3 APN 11 101,228,304 (GRCm39) missense possibly damaging 0.73
IGL02026:Aoc3 APN 11 101,228,421 (GRCm39) missense probably benign
IGL02500:Aoc3 APN 11 101,228,215 (GRCm39) nonsense probably null
R0463:Aoc3 UTSW 11 101,222,432 (GRCm39) missense probably damaging 1.00
R0524:Aoc3 UTSW 11 101,228,337 (GRCm39) missense probably damaging 1.00
R0538:Aoc3 UTSW 11 101,222,964 (GRCm39) missense possibly damaging 0.77
R0685:Aoc3 UTSW 11 101,227,273 (GRCm39) missense possibly damaging 0.84
R0740:Aoc3 UTSW 11 101,223,158 (GRCm39) missense probably benign 0.01
R0946:Aoc3 UTSW 11 101,223,131 (GRCm39) missense possibly damaging 0.89
R1723:Aoc3 UTSW 11 101,227,261 (GRCm39) missense possibly damaging 0.82
R1869:Aoc3 UTSW 11 101,222,293 (GRCm39) nonsense probably null
R3735:Aoc3 UTSW 11 101,223,045 (GRCm39) missense probably damaging 0.99
R4497:Aoc3 UTSW 11 101,222,871 (GRCm39) missense possibly damaging 0.70
R4613:Aoc3 UTSW 11 101,228,485 (GRCm39) intron probably benign
R4858:Aoc3 UTSW 11 101,222,488 (GRCm39) missense probably damaging 1.00
R4954:Aoc3 UTSW 11 101,222,925 (GRCm39) missense probably damaging 1.00
R4976:Aoc3 UTSW 11 101,221,800 (GRCm39) missense probably damaging 1.00
R6679:Aoc3 UTSW 11 101,222,279 (GRCm39) missense probably damaging 1.00
R7485:Aoc3 UTSW 11 101,228,229 (GRCm39) missense probably damaging 1.00
R7693:Aoc3 UTSW 11 101,223,338 (GRCm39) missense probably benign 0.00
R7888:Aoc3 UTSW 11 101,223,323 (GRCm39) missense probably damaging 1.00
R8041:Aoc3 UTSW 11 101,223,132 (GRCm39) missense probably benign 0.00
R8444:Aoc3 UTSW 11 101,232,573 (GRCm39) missense unknown
R8491:Aoc3 UTSW 11 101,223,042 (GRCm39) missense probably benign 0.41
R8685:Aoc3 UTSW 11 101,223,042 (GRCm39) missense probably benign 0.00
R8732:Aoc3 UTSW 11 101,222,643 (GRCm39) missense probably benign 0.00
R9660:Aoc3 UTSW 11 101,221,914 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- TGGTTTGCAATCAGGGGAC -3'
(R):5'- AGATCCTTGGGCCACTGAAAG -3'

Sequencing Primer
(F):5'- CCGGGCCACCTGGTTTG -3'
(R):5'- GAAGAAGACACTTGGCTCCCCTG -3'
Posted On 2016-11-21