Incidental Mutation 'R4497:Aoc3'
ID 331033
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 041750-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R4497 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101221432-101230256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101222871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 369 (I369R)
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 possibly damaging
Transcript: ENSMUST00000103105
AA Change: I369R

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326
AA Change: I369R

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 G A 15: 81,779,486 (GRCm39) A97T probably damaging Het
Adat1 T C 8: 112,705,994 (GRCm39) S371G probably benign Het
Apobr A T 7: 126,186,694 (GRCm39) probably null Het
Arhgap12 A T 18: 6,111,774 (GRCm39) C69S probably damaging Het
Astn2 A G 4: 66,037,300 (GRCm39) probably benign Het
Bcas1 T C 2: 170,248,741 (GRCm39) D60G probably damaging Het
Cacnb4 T A 2: 52,367,783 (GRCm39) D62V probably damaging Het
Cbx8 C A 11: 118,931,618 (GRCm39) R20L probably damaging Het
Ccdc92 G A 5: 124,913,337 (GRCm39) T64M probably benign Het
Cps1 G T 1: 67,244,358 (GRCm39) S1135I probably null Het
Eml2 G A 7: 18,913,275 (GRCm39) R91H probably damaging Het
Fbxl3 G A 14: 103,320,313 (GRCm39) P426L probably damaging Het
Fhod3 T A 18: 25,243,296 (GRCm39) probably null Het
Gabrb2 T C 11: 42,488,521 (GRCm39) I329T probably benign Het
Gli3 T A 13: 15,898,156 (GRCm39) D745E possibly damaging Het
Itprid2 T A 2: 79,488,164 (GRCm39) V749E probably damaging Het
Lacc1 T A 14: 77,271,470 (GRCm39) N239I probably damaging Het
Lamb2 T A 9: 108,363,997 (GRCm39) C1008S probably damaging Het
Man2b1 G A 8: 85,817,565 (GRCm39) V349I probably benign Het
Mib1 A G 18: 10,811,985 (GRCm39) T961A possibly damaging Het
Mmp24 A G 2: 155,655,908 (GRCm39) I449V possibly damaging Het
Myo7b A G 18: 32,147,282 (GRCm39) I87T probably benign Het
Or13c7b A G 4: 43,821,175 (GRCm39) F62S probably damaging Het
Or5p72 T A 7: 108,022,122 (GRCm39) C115S probably benign Het
Pgr A G 9: 8,958,420 (GRCm39) E809G probably damaging Het
Ppp1r3g T A 13: 36,153,603 (GRCm39) V341E probably benign Het
Prkdc T A 16: 15,518,517 (GRCm39) S1091T probably benign Het
Rab44 G A 17: 29,358,871 (GRCm39) R353K probably benign Het
Reck G A 4: 43,891,001 (GRCm39) M46I probably benign Het
Rorb G T 19: 18,954,992 (GRCm39) S208Y possibly damaging Het
Serinc2 G T 4: 130,147,847 (GRCm39) T410N possibly damaging Het
Slc23a2 G A 2: 131,898,702 (GRCm39) R612* probably null Het
Slx4 T C 16: 3,812,773 (GRCm39) E145G probably damaging Het
Spag16 A G 1: 70,532,989 (GRCm39) D556G probably damaging Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Tmf1 A T 6: 97,149,293 (GRCm39) F485I probably benign Het
Trmo C T 4: 46,382,140 (GRCm39) V326M probably damaging Het
Tssk5 T C 15: 76,256,411 (GRCm39) D336G probably damaging Het
Ttyh2 A T 11: 114,601,789 (GRCm39) Q471L possibly damaging Het
Wdr33 A C 18: 32,026,132 (GRCm39) Q944H unknown Het
Wdr55 G A 18: 36,893,448 (GRCm39) V37M possibly damaging Het
Zbtb18 A T 1: 177,274,687 (GRCm39) S7C probably damaging Het
Zfhx4 G A 3: 5,464,680 (GRCm39) V1638M possibly damaging Het
Zfp81 A T 17: 33,553,677 (GRCm39) I379N 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
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
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'- CTAAAGTCCTCAGTGCCACC -3'
(R):5'- GGCCCTGGTTCTGTTCAAAC -3'

Sequencing Primer
(F):5'- AGCCAAGTGTCTTCTTCC -3'
(R):5'- GGTTCTGTTCAAACACACAAAATGC -3'
Posted On 2015-07-21