Incidental Mutation 'R8041:Aoc3'
ID 618535
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 067478-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R8041 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101221432-101230256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101223132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 456 (V456A)
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 benign
Transcript: ENSMUST00000103105
AA Change: V456A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326
AA Change: V456A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 A T 18: 61,891,754 (GRCm39) L21Q probably damaging Het
Ago1 G A 4: 126,335,729 (GRCm39) R661C probably damaging Het
Albfm1 T A 5: 90,740,864 (GRCm39) probably null Het
Aopep G C 13: 63,180,921 (GRCm39) W294C probably damaging Het
Cacna1b A T 2: 24,547,311 (GRCm39) F1223L probably damaging Het
Ccdc40 T C 11: 119,122,507 (GRCm39) F33S possibly damaging Het
Ccnjl T C 11: 43,470,538 (GRCm39) V102A probably damaging Het
Cd48 T C 1: 171,526,958 (GRCm39) V128A probably damaging Het
Cmah A G 13: 24,652,601 (GRCm39) D577G probably benign Het
Cnnm4 A G 1: 36,511,174 (GRCm39) K134R probably benign Het
Cntnap5a T A 1: 116,187,209 (GRCm39) Y594N probably damaging Het
Col14a1 A G 15: 55,318,626 (GRCm39) E1375G unknown Het
Comtd1 T A 14: 21,897,985 (GRCm39) E153V probably benign Het
Dchs1 T A 7: 105,404,395 (GRCm39) T2716S probably benign Het
Ddx4 A T 13: 112,762,928 (GRCm39) S143T probably benign Het
Dlg1 A G 16: 31,656,885 (GRCm39) D593G possibly damaging Het
Dok6 A G 18: 89,578,213 (GRCm39) I68T possibly damaging Het
Dpysl5 A G 5: 30,953,658 (GRCm39) I563V probably benign Het
Eapp A G 12: 54,739,650 (GRCm39) S56P probably damaging Het
Efcab3 T G 11: 104,810,305 (GRCm39) D3147E unknown Het
Fgd5 A T 6: 92,038,837 (GRCm39) D1157V probably damaging Het
Fmn1 T A 2: 113,194,939 (GRCm39) L213Q unknown Het
Foxo1 T A 3: 52,253,044 (GRCm39) Y402* probably null Het
Fyb2 C A 4: 104,857,681 (GRCm39) F619L possibly damaging Het
Gtf2i A T 5: 134,322,599 (GRCm39) probably null Het
Hrh1 G A 6: 114,456,878 (GRCm39) R53H not run Het
Hydin A T 8: 111,301,626 (GRCm39) M3786L probably benign Het
Ifi207 T C 1: 173,555,268 (GRCm39) R805G possibly damaging Het
Igfn1 C A 1: 135,895,797 (GRCm39) G1590* probably null Het
Jph3 A C 8: 122,516,201 (GRCm39) I740L probably benign Het
Kbtbd7 T A 14: 79,666,144 (GRCm39) F659I probably benign Het
Kcns2 A T 15: 34,839,291 (GRCm39) Q218L probably benign Het
Kcnt2 A G 1: 140,537,398 (GRCm39) N1119S probably benign Het
Krit1 A T 5: 3,857,309 (GRCm39) H38L probably benign Het
Krt20 T A 11: 99,328,663 (GRCm39) R87S probably damaging Het
Ly6g5c A G 17: 35,330,808 (GRCm39) E110G probably damaging Het
Mamdc4 A G 2: 25,454,707 (GRCm39) F1035S probably damaging Het
Mmp13 A T 9: 7,280,865 (GRCm39) D416V probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nrap A T 19: 56,352,768 (GRCm39) L566* probably null Het
Or12d17 T C 17: 37,777,540 (GRCm39) F148L probably benign Het
Or4b12 A T 2: 90,096,488 (GRCm39) C95* probably null Het
Or51ai2 T C 7: 103,586,788 (GRCm39) L67P probably damaging Het
Or5p69 T C 7: 107,966,741 (GRCm39) F15L probably damaging Het
Pcdhb19 T C 18: 37,630,367 (GRCm39) L54P possibly damaging Het
Pitpnm2 A G 5: 124,259,519 (GRCm39) F1272S probably damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Reep4 T C 14: 70,785,627 (GRCm39) Y186H probably benign Het
Rpgrip1 A G 14: 52,356,702 (GRCm39) T89A possibly damaging Het
Shc1 T C 3: 89,330,260 (GRCm39) S175P probably damaging Het
Sipa1l3 A G 7: 29,063,645 (GRCm39) S1156P probably damaging Het
Slc1a3 G A 15: 8,665,683 (GRCm39) P522L probably benign Het
Slc6a17 T A 3: 107,381,744 (GRCm39) T446S probably damaging Het
Tas1r2 A T 4: 139,387,290 (GRCm39) N250Y possibly damaging Het
Tex15 G T 8: 34,065,874 (GRCm39) R1768L probably damaging Het
Ttll9 G C 2: 152,844,956 (GRCm39) Q441H possibly damaging Het
Unc5c T A 3: 141,171,545 (GRCm39) V24E possibly damaging Het
Unc79 A G 12: 103,054,726 (GRCm39) E888G probably benign Het
Vmn2r19 T C 6: 123,312,750 (GRCm39) S607P possibly damaging Het
Vsig1 C T X: 139,833,875 (GRCm39) H232Y probably benign Het
Wdfy4 A G 14: 32,875,965 (GRCm39) probably null Het
Zbtb49 T C 5: 38,358,198 (GRCm39) D685G possibly 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
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
R7888:Aoc3 UTSW 11 101,223,323 (GRCm39) missense probably damaging 1.00
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'- GGCATTGGCAAATACTCTACCC -3'
(R):5'- ACTTTGAAGTGAGCGCTGTG -3'

Sequencing Primer
(F):5'- CCCCTGATCCGAGGGGTAG -3'
(R):5'- TGTGTACCGTGCCCAGC -3'
Posted On 2020-01-23