Incidental Mutation 'IGL02500:Aoc3'
ID 296001
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aoc3
Ensembl Gene ENSMUSG00000019326
Gene Name amine oxidase, copper containing 3
Synonyms semicarbazide-sensitive amine oxidase, SSAO, VAP1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # IGL02500
Quality Score
Status
Chromosome 11
Chromosomal Location 101221432-101230256 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 101228215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 674 (L674*)
Ref Sequence ENSEMBL: ENSMUSP00000099394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017316] [ENSMUST00000103105]
AlphaFold O70423
Predicted Effect probably null
Transcript: ENSMUST00000017316
AA Change: L394*
SMART Domains Protein: ENSMUSP00000017316
Gene: ENSMUSG00000019326
AA Change: L394*

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 null
Transcript: ENSMUST00000103105
AA Change: L674*
SMART Domains Protein: ENSMUSP00000099394
Gene: ENSMUSG00000019326
AA Change: L674*

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 noncoding transcript
Transcript: ENSMUST00000187880
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,856,338 (GRCm39) I409N possibly damaging Het
Arhgef10 G A 8: 15,011,238 (GRCm39) E265K probably damaging Het
Ccn1 T C 3: 145,354,455 (GRCm39) K152R probably damaging Het
Cd53 A G 3: 106,676,142 (GRCm39) I75T probably damaging Het
Col26a1 A T 5: 136,783,193 (GRCm39) L235* probably null Het
Crem G T 18: 3,273,477 (GRCm39) Q60K probably damaging Het
Cyp2j8 T C 4: 96,358,887 (GRCm39) D344G probably damaging Het
Dchs1 T C 7: 105,405,013 (GRCm39) T2510A probably benign Het
Dnajc4 T C 19: 6,965,456 (GRCm39) Q215R possibly damaging Het
Espl1 A G 15: 102,224,235 (GRCm39) H1262R probably benign Het
Exoc2 G T 13: 31,095,179 (GRCm39) T239K probably damaging Het
Fzd6 A T 15: 38,894,781 (GRCm39) S316C probably damaging Het
Htra1 A G 7: 130,586,704 (GRCm39) K429R probably benign Het
Il1rapl2 C T X: 137,747,252 (GRCm39) T647I possibly damaging Het
Kcnn3 T A 3: 89,568,419 (GRCm39) probably benign Het
Kiz G A 2: 146,705,733 (GRCm39) V98I probably benign Het
Klk1b24 A T 7: 43,837,748 (GRCm39) probably benign Het
Lrrc30 T A 17: 67,938,857 (GRCm39) N241I probably damaging Het
Map2k4 A G 11: 65,587,136 (GRCm39) V288A probably damaging Het
Mefv T C 16: 3,531,441 (GRCm39) H459R probably damaging Het
Mettl21a G T 1: 64,647,213 (GRCm39) Q115K probably benign Het
Msra A G 14: 64,522,637 (GRCm39) probably benign Het
Myh8 G A 11: 67,196,536 (GRCm39) R1752H probably benign Het
Nrp1 T C 8: 129,152,280 (GRCm39) F163S possibly damaging Het
Ntng1 T A 3: 110,042,646 (GRCm39) Y60F probably damaging Het
Pax6 G T 2: 105,523,115 (GRCm39) R317L probably benign Het
Pcdh17 A G 14: 84,770,909 (GRCm39) E1129G probably benign Het
Phlpp2 C T 8: 110,640,250 (GRCm39) H472Y probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Prkce A G 17: 86,476,342 (GRCm39) N108D probably benign Het
Prkdc T G 16: 15,532,146 (GRCm39) probably null Het
Ptprm T C 17: 67,227,043 (GRCm39) Y702C probably damaging Het
Rbbp8nl T C 2: 179,921,122 (GRCm39) T421A possibly damaging Het
Retnlg A T 16: 48,693,323 (GRCm39) L33F probably benign Het
Slc16a7 T A 10: 125,066,802 (GRCm39) Y279F probably damaging Het
Slc8a1 T C 17: 81,696,142 (GRCm39) Y964C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Sspo C A 6: 48,455,313 (GRCm39) C3047* probably null Het
Tmprss11b C T 5: 86,815,182 (GRCm39) probably null Het
Txnrd1 T G 10: 82,715,051 (GRCm39) W98G probably damaging Het
Ulk1 A T 5: 110,957,000 (GRCm39) I66N probably damaging Het
Ush2a A G 1: 188,554,893 (GRCm39) Y3557C probably damaging Het
Vmn2r57 T A 7: 41,077,650 (GRCm39) H172L probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp592 T A 7: 80,691,474 (GRCm39) C1218S 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
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
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
Posted On 2015-04-16