Incidental Mutation 'R0411:Smox'
ID 36638
Institutional Source Beutler Lab
Gene Symbol Smox
Ensembl Gene ENSMUSG00000027333
Gene Name spermine oxidase
Synonyms SMO, B130066H01Rik
MMRRC Submission 038613-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # R0411 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 131333624-131367103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 131362564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 281 (R281L)
Ref Sequence ENSEMBL: ENSMUSP00000105818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028806] [ENSMUST00000110179] [ENSMUST00000110180] [ENSMUST00000110181] [ENSMUST00000110182] [ENSMUST00000110183] [ENSMUST00000110186] [ENSMUST00000110189] [ENSMUST00000110188] [ENSMUST00000129143] [ENSMUST00000183575] [ENSMUST00000183947]
AlphaFold Q99K82
Predicted Effect probably benign
Transcript: ENSMUST00000028806
AA Change: R281L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000028806
Gene: ENSMUSG00000027333
AA Change: R281L

DomainStartEndE-ValueType
Pfam:FAD_binding_2 26 85 7.2e-8 PFAM
Pfam:DAO 26 194 2.5e-9 PFAM
Pfam:NAD_binding_8 29 96 3.8e-18 PFAM
Pfam:Amino_oxidase 34 275 4.2e-27 PFAM
Pfam:Amino_oxidase 302 544 3.4e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110179
SMART Domains Protein: ENSMUSP00000105808
Gene: ENSMUSG00000027333

DomainStartEndE-ValueType
Pfam:FAD_binding_2 26 85 2.3e-8 PFAM
Pfam:DAO 26 206 4.2e-10 PFAM
Pfam:Pyr_redox_3 28 101 2.3e-8 PFAM
Pfam:NAD_binding_8 29 96 1e-18 PFAM
Pfam:Amino_oxidase 34 118 6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110180
AA Change: R281L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105809
Gene: ENSMUSG00000027333
AA Change: R281L

DomainStartEndE-ValueType
Pfam:FAD_binding_2 26 85 5e-8 PFAM
Pfam:DAO 26 196 1.5e-9 PFAM
Pfam:NAD_binding_8 29 96 2.5e-18 PFAM
Pfam:Amino_oxidase 34 272 2.2e-27 PFAM
Pfam:Amino_oxidase 277 408 3.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110181
SMART Domains Protein: ENSMUSP00000105810
Gene: ENSMUSG00000027333

DomainStartEndE-ValueType
Pfam:FAD_binding_2 26 85 3.6e-8 PFAM
Pfam:DAO 26 202 8.9e-10 PFAM
Pfam:NAD_binding_8 29 96 1.2e-18 PFAM
Pfam:Amino_oxidase 34 116 2.1e-22 PFAM
Pfam:Amino_oxidase 197 374 1.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110182
SMART Domains Protein: ENSMUSP00000105811
Gene: ENSMUSG00000027333

DomainStartEndE-ValueType
Pfam:FAD_binding_3 24 79 1.2e-6 PFAM
Pfam:FAD_binding_2 26 87 1.6e-8 PFAM
Pfam:DAO 26 183 2.9e-9 PFAM
Pfam:Pyr_redox_3 28 103 1.4e-8 PFAM
Pfam:NAD_binding_8 29 96 6.3e-19 PFAM
Pfam:Amino_oxidase 34 118 3.6e-23 PFAM
Pfam:Amino_oxidase 129 179 1.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110183
SMART Domains Protein: ENSMUSP00000105812
Gene: ENSMUSG00000027333

DomainStartEndE-ValueType
Pfam:FAD_binding_2 26 85 2.3e-8 PFAM
Pfam:DAO 26 227 5.1e-10 PFAM
Pfam:Pyr_redox_3 28 103 2.2e-8 PFAM
Pfam:NAD_binding_8 29 96 1.1e-18 PFAM
Pfam:Amino_oxidase 34 118 6.2e-23 PFAM
Pfam:Amino_oxidase 141 237 4.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110186
AA Change: R281L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105815
Gene: ENSMUSG00000027333
AA Change: R281L

DomainStartEndE-ValueType
Pfam:FAD_binding_2 26 78 1.7e-7 PFAM
Pfam:DAO 26 132 7.9e-9 PFAM
Pfam:NAD_binding_8 29 95 5.6e-18 PFAM
Pfam:Amino_oxidase 34 275 2.9e-28 PFAM
Pfam:Amino_oxidase 304 574 2.5e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110189
AA Change: R281L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105818
Gene: ENSMUSG00000027333
AA Change: R281L

DomainStartEndE-ValueType
Pfam:FAD_binding_2 26 85 6.5e-8 PFAM
Pfam:DAO 26 194 2.2e-9 PFAM
Pfam:NAD_binding_8 29 96 3.4e-18 PFAM
Pfam:Amino_oxidase 34 275 3.5e-27 PFAM
Pfam:Amino_oxidase 302 462 5.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110188
AA Change: R281L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105817
Gene: ENSMUSG00000027333
AA Change: R281L

DomainStartEndE-ValueType
Pfam:FAD_binding_2 26 85 6.9e-8 PFAM
Pfam:DAO 26 194 2.4e-9 PFAM
Pfam:NAD_binding_8 29 96 3.6e-18 PFAM
Pfam:Amino_oxidase 34 275 3.8e-27 PFAM
Pfam:Amino_oxidase 302 463 2.4e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151627
Predicted Effect probably benign
Transcript: ENSMUST00000129143
SMART Domains Protein: ENSMUSP00000120237
Gene: ENSMUSG00000027333

DomainStartEndE-ValueType
Pfam:FAD_binding_3 24 79 9.3e-7 PFAM
Pfam:FAD_binding_2 26 86 8.9e-9 PFAM
Pfam:DAO 26 190 1.6e-10 PFAM
Pfam:Pyr_redox_3 28 102 9.5e-9 PFAM
Pfam:NAD_binding_8 29 96 2.7e-19 PFAM
Pfam:Amino_oxidase 34 118 6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183575
SMART Domains Protein: ENSMUSP00000139099
Gene: ENSMUSG00000027333

DomainStartEndE-ValueType
Pfam:Thi4 17 73 8.6e-7 PFAM
Pfam:FAD_binding_2 26 75 3.3e-9 PFAM
Pfam:DAO 26 79 4.2e-10 PFAM
Pfam:Pyr_redox 26 79 1.4e-7 PFAM
Pfam:Pyr_redox_3 28 77 2.1e-9 PFAM
Pfam:NAD_binding_8 29 80 6.8e-15 PFAM
Pfam:Amino_oxidase 34 76 3.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183947
SMART Domains Protein: ENSMUSP00000139278
Gene: ENSMUSG00000027333

DomainStartEndE-ValueType
Pfam:FAD_binding_3 24 79 1.4e-6 PFAM
Pfam:FAD_binding_2 26 85 1.8e-8 PFAM
Pfam:DAO 26 200 5e-10 PFAM
Pfam:Pyr_redox_3 28 102 1.7e-8 PFAM
Pfam:NAD_binding_8 29 96 7.7e-19 PFAM
Pfam:Amino_oxidase 34 118 4.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183881
Meta Mutation Damage Score 0.0710 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (66/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,053,834 (GRCm39) probably benign Het
6030469F06Rik A T 12: 31,234,730 (GRCm39) noncoding transcript Het
Acad11 T C 9: 103,993,495 (GRCm39) F541L probably damaging Het
Acin1 G T 14: 54,884,231 (GRCm39) R92S probably damaging Het
Appl1 A G 14: 26,662,213 (GRCm39) S490P probably benign Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Arih1 A T 9: 59,393,266 (GRCm39) I122N possibly damaging Het
Bmi1 T C 2: 18,687,983 (GRCm39) probably benign Het
Bmpr1a G A 14: 34,137,834 (GRCm39) T391I possibly damaging Het
Cacna1s A G 1: 136,041,041 (GRCm39) K1256E probably damaging Het
Cacng3 C T 7: 122,367,795 (GRCm39) P225L probably damaging Het
Cd101 A T 3: 100,925,843 (GRCm39) probably null Het
Cd55 A G 1: 130,390,294 (GRCm39) probably benign Het
Cenpe T C 3: 134,928,016 (GRCm39) I258T probably damaging Het
Cfap251 C T 5: 123,428,117 (GRCm39) T538M probably damaging Het
Cma2 A G 14: 56,211,135 (GRCm39) probably benign Het
Ddost T A 4: 138,036,964 (GRCm39) S176T probably benign Het
Ddx19b A T 8: 111,750,596 (GRCm39) probably null Het
Dmxl2 A G 9: 54,286,223 (GRCm39) I2681T probably damaging Het
Ern1 C T 11: 106,289,412 (GRCm39) E964K probably benign Het
Exoc1l G T 5: 76,648,334 (GRCm39) V47L possibly damaging Het
Galntl5 C T 5: 25,425,172 (GRCm39) R430C probably benign Het
Gga3 A G 11: 115,478,259 (GRCm39) L511P probably damaging Het
Gria2 C T 3: 80,618,165 (GRCm39) probably benign Het
Hmbs A T 9: 44,252,949 (GRCm39) L28* probably null Het
Iffo2 A G 4: 139,330,532 (GRCm39) E220G probably damaging Het
Ifi30 A G 8: 71,217,562 (GRCm39) probably benign Het
Irf2 T A 8: 47,299,096 (GRCm39) C297S probably benign Het
Izumo4 T C 10: 80,538,918 (GRCm39) Y94H probably damaging Het
Klhdc9 A G 1: 171,187,353 (GRCm39) V215A probably benign Het
Kmt2a T C 9: 44,731,261 (GRCm39) probably benign Het
Kmt2c A T 5: 25,580,955 (GRCm39) C513S probably damaging Het
Lyg1 A T 1: 37,988,977 (GRCm39) M81K possibly damaging Het
Maip1 T G 1: 57,454,852 (GRCm39) W279G probably damaging Het
Myo7a T C 7: 97,721,144 (GRCm39) T1263A probably benign Het
Naa15 T A 3: 51,373,060 (GRCm39) I701N possibly damaging Het
Ncoa3 A G 2: 165,910,463 (GRCm39) N1292S probably benign Het
Necab2 T A 8: 120,180,979 (GRCm39) probably benign Het
Nfatc1 T A 18: 80,741,257 (GRCm39) I234F possibly damaging Het
Olfm1 G A 2: 28,098,223 (GRCm39) R95K possibly damaging Het
Or10ag56 A G 2: 87,139,402 (GRCm39) T90A probably benign Het
Or10ak8 A T 4: 118,773,823 (GRCm39) N280K possibly damaging Het
Otoa T C 7: 120,755,750 (GRCm39) probably null Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pard6g A G 18: 80,160,337 (GRCm39) D150G probably damaging Het
Pax5 A G 4: 44,609,783 (GRCm39) L215S probably damaging Het
Pja2 A T 17: 64,594,516 (GRCm39) probably benign Het
Plk4 T A 3: 40,765,654 (GRCm39) probably benign Het
Polr1a A T 6: 71,955,405 (GRCm39) H1687L possibly damaging Het
Ptcd2 G A 13: 99,479,899 (GRCm39) L41F probably damaging Het
Ropn1 T A 16: 34,490,334 (GRCm39) S62T probably benign Het
Setd1a T C 7: 127,395,223 (GRCm39) probably benign Het
Setdb1 T C 3: 95,234,997 (GRCm39) D902G probably damaging Het
Sik3 T A 9: 46,120,068 (GRCm39) L719Q probably damaging Het
Slc36a1 G T 11: 55,123,333 (GRCm39) V433F probably benign Het
Slc6a3 T C 13: 73,705,169 (GRCm39) V220A possibly damaging Het
Slc6a5 A T 7: 49,561,539 (GRCm39) R24W probably damaging Het
Sulf2 G T 2: 165,935,436 (GRCm39) H226N probably damaging Het
Syne2 C T 12: 76,106,358 (GRCm39) probably null Het
Tenm3 C T 8: 48,740,826 (GRCm39) S1210N possibly damaging Het
Tns1 A T 1: 73,964,920 (GRCm39) V1237E probably damaging Het
Trf C T 9: 103,094,700 (GRCm39) V92M probably damaging Het
Ttn A G 2: 76,539,717 (GRCm39) V34423A possibly damaging Het
Vmn2r118 A G 17: 55,918,021 (GRCm39) probably benign Het
Vmn2r19 A G 6: 123,286,703 (GRCm39) Y112C probably damaging Het
Zfp326 G T 5: 106,026,641 (GRCm39) A15S possibly damaging Het
Other mutations in Smox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Smox APN 2 131,353,979 (GRCm39) missense possibly damaging 0.91
IGL02022:Smox APN 2 131,362,037 (GRCm39) missense probably damaging 0.98
R0368:Smox UTSW 2 131,364,078 (GRCm39) missense probably damaging 1.00
R1416:Smox UTSW 2 131,364,051 (GRCm39) missense probably damaging 1.00
R1601:Smox UTSW 2 131,362,094 (GRCm39) missense probably damaging 1.00
R1959:Smox UTSW 2 131,362,384 (GRCm39) missense probably damaging 0.97
R2173:Smox UTSW 2 131,353,944 (GRCm39) missense possibly damaging 0.91
R2215:Smox UTSW 2 131,362,190 (GRCm39) critical splice donor site probably null
R4179:Smox UTSW 2 131,366,770 (GRCm39) missense possibly damaging 0.84
R5282:Smox UTSW 2 131,363,026 (GRCm39) missense probably damaging 0.99
R5630:Smox UTSW 2 131,366,786 (GRCm39) nonsense probably null
R5979:Smox UTSW 2 131,358,334 (GRCm39) missense probably damaging 0.99
R6984:Smox UTSW 2 131,364,031 (GRCm39) missense possibly damaging 0.90
R6986:Smox UTSW 2 131,364,031 (GRCm39) missense possibly damaging 0.90
R7073:Smox UTSW 2 131,364,031 (GRCm39) missense possibly damaging 0.90
R7074:Smox UTSW 2 131,364,031 (GRCm39) missense possibly damaging 0.90
R7183:Smox UTSW 2 131,362,486 (GRCm39) missense possibly damaging 0.91
R8054:Smox UTSW 2 131,364,100 (GRCm39) missense probably benign 0.01
R9222:Smox UTSW 2 131,362,843 (GRCm39) missense possibly damaging 0.65
X0026:Smox UTSW 2 131,358,155 (GRCm39) missense probably damaging 1.00
Z1176:Smox UTSW 2 131,362,461 (GRCm39) missense probably damaging 0.98
Z1177:Smox UTSW 2 131,354,006 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGCGCCTTTGGAGAATGGAC -3'
(R):5'- GGACATCGAAGCCACAGATCTTGC -3'

Sequencing Primer
(F):5'- CTTTGGAGAATGGACGGAGATCC -3'
(R):5'- AGGGCTCCTCAAATTCAAGG -3'
Posted On 2013-05-09