Incidental Mutation 'R7888:Aoc3'
ID 609170
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 045940-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R7888 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101221432-101230256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101223323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 520 (H520Y)
Ref Sequence ENSEMBL: ENSMUSP00000099394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017316] [ENSMUST00000041095] [ENSMUST00000103105] [ENSMUST00000107264]
AlphaFold O70423
Predicted Effect probably benign
Transcript: ENSMUST00000017316
SMART Domains Protein: ENSMUSP00000017316
Gene: ENSMUSG00000019326

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 damaging
Transcript: ENSMUST00000103105
AA Change: H520Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326
AA Change: H520Y

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 0.8536 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 G T 14: 8,246,415 (GRCm38) Q459K probably benign Het
Ano3 T A 2: 110,496,773 (GRCm39) Y792F probably damaging Het
Atp4b A G 8: 13,439,811 (GRCm39) F137S probably damaging Het
Blvrb A G 7: 27,165,159 (GRCm39) T160A probably damaging Het
Brd2 G A 17: 34,335,995 (GRCm39) R73W probably damaging Het
Btaf1 A G 19: 36,943,036 (GRCm39) T306A probably benign Het
Ccdc154 G A 17: 25,383,578 (GRCm39) V212M possibly damaging Het
Ccdc40 A G 11: 119,119,967 (GRCm39) E3G unknown Het
Cenpb T A 2: 131,021,762 (GRCm39) E12V probably damaging Het
Cnot8 T C 11: 58,002,137 (GRCm39) S57P probably benign Het
Cryba4 T C 5: 112,398,918 (GRCm39) E42G probably benign Het
Fam72a T A 1: 131,456,578 (GRCm39) I47N probably damaging Het
Gm27027 A C 2: 93,787,880 (GRCm39) probably null Het
Itgb2 T C 10: 77,400,478 (GRCm39) V697A probably benign Het
Jakmip1 A G 5: 37,262,208 (GRCm39) N336D probably damaging Het
Kansl1 T C 11: 104,233,248 (GRCm39) T760A probably benign Het
Lrrc37a T A 11: 103,392,307 (GRCm39) E1039D probably benign Het
Meaf6 T G 4: 125,003,213 (GRCm39) probably null Het
Mpz T C 1: 170,987,204 (GRCm39) probably null Het
Mtss1 A T 15: 58,844,373 (GRCm39) M82K probably damaging Het
Myo6 T C 9: 80,203,947 (GRCm39) S1063P probably damaging Het
Niban2 T A 2: 32,812,137 (GRCm39) Y406* probably null Het
Nsun6 T A 2: 15,001,355 (GRCm39) E400D probably benign Het
Or10al5 A T 17: 38,062,888 (GRCm39) N48Y probably damaging Het
Or1e26 T C 11: 73,480,354 (GRCm39) D70G probably damaging Het
Or1l4b A T 2: 37,036,334 (GRCm39) M37L probably benign Het
Or2t26 T C 11: 49,039,266 (GRCm39) Y61H probably damaging Het
Or52ae7 T A 7: 103,120,006 (GRCm39) Y253* probably null Het
Or5au1 A G 14: 52,273,347 (GRCm39) S74P probably damaging Het
Or8j3b C A 2: 86,205,270 (GRCm39) C162F probably benign Het
Pfdn5 T A 15: 102,237,024 (GRCm39) V92E probably damaging Het
Pik3c2g T C 6: 139,842,470 (GRCm39) V801A Het
Psme2b T A 11: 48,836,402 (GRCm39) T182S possibly damaging Het
Ptcd3 G A 6: 71,860,431 (GRCm39) A592V probably damaging Het
Rabgap1 T A 2: 37,427,319 (GRCm39) Y633* probably null Het
Rnf39 A T 17: 37,258,133 (GRCm39) T222S probably damaging Het
Scnn1g A G 7: 121,342,878 (GRCm39) N277S probably damaging Het
Slc16a13 T G 11: 70,109,806 (GRCm39) I232L possibly damaging Het
Slco2b1 T G 7: 99,338,050 (GRCm39) R111S unknown Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Tmc3 T C 7: 83,249,217 (GRCm39) W269R probably damaging Het
Vmn2r4 T C 3: 64,313,943 (GRCm39) E346G probably damaging Het
Vps52 A G 17: 34,184,725 (GRCm39) N666S probably damaging Het
Wdfy4 C T 14: 32,812,920 (GRCm39) D1618N Het
Zfp773 C A 7: 7,135,978 (GRCm39) C206F probably benign 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
R5770:Aoc3 UTSW 11 101,222,578 (GRCm39) nonsense probably null
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
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'- CTTGTGGTCAGATCCGTGTC -3'
(R):5'- GGGGTTAGCCATTTCCCAAGATG -3'

Sequencing Primer
(F):5'- GGTCAGATCCGTGTCTACCTTG -3'
(R):5'- TCACATGTATAGAGTCTGGCAGC -3'
Posted On 2019-12-20