Incidental Mutation 'R1959:Smox'
ID 218115
Institutional Source Beutler Lab
Gene Symbol Smox
Ensembl Gene ENSMUSG00000027333
Gene Name spermine oxidase
Synonyms SMO, B130066H01Rik
MMRRC Submission 039973-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.358) question?
Stock # R1959 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 131333624-131367103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 131362384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 221 (A221D)
Ref Sequence ENSEMBL: ENSMUSP00000105818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028806] [ENSMUST00000110179] [ENSMUST00000110180] [ENSMUST00000110181] [ENSMUST00000110182] [ENSMUST00000110183] [ENSMUST00000110186] [ENSMUST00000110188] [ENSMUST00000110189] [ENSMUST00000183575] [ENSMUST00000129143] [ENSMUST00000183947]
AlphaFold Q99K82
Predicted Effect probably damaging
Transcript: ENSMUST00000028806
AA Change: A221D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028806
Gene: ENSMUSG00000027333
AA Change: A221D

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 damaging
Transcript: ENSMUST00000110180
AA Change: A221D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105809
Gene: ENSMUSG00000027333
AA Change: A221D

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 damaging
Transcript: ENSMUST00000110186
AA Change: A221D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105815
Gene: ENSMUSG00000027333
AA Change: A221D

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 damaging
Transcript: ENSMUST00000110188
AA Change: A221D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105817
Gene: ENSMUSG00000027333
AA Change: A221D

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 probably damaging
Transcript: ENSMUST00000110189
AA Change: A221D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105818
Gene: ENSMUSG00000027333
AA Change: A221D

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 noncoding transcript
Transcript: ENSMUST00000151143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151627
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: ENSMUST00000183881
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: 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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
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: 130 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,214,257 (GRCm39) Y191H probably damaging Het
Aco1 T C 4: 40,167,193 (GRCm39) probably null Het
Adap1 A G 5: 139,259,096 (GRCm39) Y364H probably benign Het
Add2 T C 6: 86,073,738 (GRCm39) F209S probably damaging Het
Adgb A T 10: 10,270,993 (GRCm39) D883E probably benign Het
Anapc1 C A 2: 128,475,335 (GRCm39) R1381S probably benign Het
Aoah A G 13: 20,978,564 (GRCm39) M1V probably null Het
Arap1 C A 7: 101,022,222 (GRCm39) A8E probably damaging Het
Arhgap10 A G 8: 78,136,255 (GRCm39) F319S possibly damaging Het
Btrc T G 19: 45,515,782 (GRCm39) I480S probably damaging Het
Cabin1 A T 10: 75,570,924 (GRCm39) V784E possibly damaging Het
Card9 T A 2: 26,244,885 (GRCm39) probably null Het
Cdk18 A G 1: 132,045,559 (GRCm39) I238T possibly damaging Het
Clec12a A C 6: 129,327,444 (GRCm39) T21P possibly damaging Het
Commd3 A T 2: 18,678,774 (GRCm39) I70F probably benign Het
Cspg5 G A 9: 110,080,094 (GRCm39) V340M probably damaging Het
Cyb5r4 G A 9: 86,937,902 (GRCm39) S307N possibly damaging Het
Cyp26c1 T A 19: 37,675,825 (GRCm39) F230I probably damaging Het
Ddx11 A G 17: 66,437,723 (GRCm39) M150V probably benign Het
Dennd4b A G 3: 90,176,080 (GRCm39) Y190C probably damaging Het
Det1 A G 7: 78,493,191 (GRCm39) V271A probably benign Het
Dgkd C A 1: 87,857,549 (GRCm39) P754T possibly damaging Het
Dhx36 T C 3: 62,386,806 (GRCm39) S649G probably benign Het
Dlgap5 A G 14: 47,653,843 (GRCm39) I62T possibly damaging Het
Dmgdh A G 13: 93,857,067 (GRCm39) M724V probably benign Het
Dnah7a A G 1: 53,724,142 (GRCm39) S108P probably benign Het
Dock4 A T 12: 40,760,797 (GRCm39) K495M probably damaging Het
Dse A G 10: 34,036,202 (GRCm39) Y225H probably damaging Het
Emx1 G A 6: 85,180,916 (GRCm39) R211K probably damaging Het
Ergic2 A G 6: 148,100,852 (GRCm39) probably null Het
Fbxo27 G A 7: 28,397,797 (GRCm39) C277Y possibly damaging Het
Fcrl1 T C 3: 87,283,827 (GRCm39) I9T possibly damaging Het
Fjx1 T C 2: 102,281,152 (GRCm39) E261G probably benign Het
Flacc1 A T 1: 58,698,437 (GRCm39) V327D possibly damaging Het
Flnb C T 14: 7,884,735 (GRCm38) Q445* probably null Het
Flrt2 G A 12: 95,747,074 (GRCm39) V471I probably benign Het
Frmd4a G A 2: 4,539,997 (GRCm39) V210M probably damaging Het
Fsip2 A G 2: 82,821,894 (GRCm39) K5876E probably benign Het
Galnt10 T C 11: 57,656,443 (GRCm39) L209P probably damaging Het
Gata5 A T 2: 179,968,729 (GRCm39) S382T possibly damaging Het
Glt6d1 C A 2: 25,684,425 (GRCm39) V194L probably damaging Het
Gm10803 T G 2: 93,394,288 (GRCm39) V20G unknown Het
Gm44511 T G 6: 128,797,234 (GRCm39) T52P probably damaging Het
Gpat4 A T 8: 23,672,952 (GRCm39) L88Q possibly damaging Het
Gpr15 T A 16: 58,538,370 (GRCm39) I240L probably benign Het
Hivep2 A T 10: 14,008,453 (GRCm39) I1684F probably benign Het
Hmcn1 T C 1: 150,525,427 (GRCm39) T3366A probably benign Het
Hnmt A G 2: 23,893,894 (GRCm39) V200A possibly damaging Het
Hps6 A T 19: 45,992,774 (GRCm39) H237L probably benign Het
Hspg2 C T 4: 137,292,206 (GRCm39) P4033S probably damaging Het
Ift70b C T 2: 75,767,443 (GRCm39) E437K probably benign Het
Irf9 T A 14: 55,845,174 (GRCm39) S297T possibly damaging Het
Kdm3b T C 18: 34,945,448 (GRCm39) V753A possibly damaging Het
Kif21a G A 15: 90,855,051 (GRCm39) A703V probably damaging Het
Kif27 T G 13: 58,440,937 (GRCm39) R1159S probably benign Het
Krtap4-16 A G 11: 99,742,373 (GRCm39) V9A unknown Het
Lama2 G T 10: 27,298,614 (GRCm39) P161T probably damaging Het
Ltbp4 G A 7: 27,028,443 (GRCm39) P273L unknown Het
Lvrn T A 18: 47,027,784 (GRCm39) S866R probably damaging Het
Med13 A G 11: 86,189,805 (GRCm39) Y1035H probably damaging Het
Mertk T A 2: 128,601,010 (GRCm39) N331K probably damaging Het
Mios T A 6: 8,215,437 (GRCm39) F211Y probably benign Het
Mpeg1 G A 19: 12,440,275 (GRCm39) V578M probably damaging Het
Mphosph9 A T 5: 124,453,764 (GRCm39) S183T possibly damaging Het
Mrto4 A T 4: 139,076,949 (GRCm39) I56N probably damaging Het
Muc5b T C 7: 141,416,374 (GRCm39) C3107R possibly damaging Het
Ncoa2 A G 1: 13,230,476 (GRCm39) Y1023H probably damaging Het
Nlrp2 T C 7: 5,330,737 (GRCm39) E553G probably damaging Het
Nlrp6 GAGAAGAAGAAGAAGAAGAAGA GAGAAGAAGAAGAAGAAGA 7: 140,504,026 (GRCm39) probably benign Het
Nr2f1 T C 13: 78,337,935 (GRCm39) T237A probably damaging Het
Nup205 C A 6: 35,210,301 (GRCm39) Q1621K probably benign Het
Nup50l A G 6: 96,142,250 (GRCm39) S265P possibly damaging Het
Nxpe2 T A 9: 48,231,026 (GRCm39) S448C probably benign Het
Ogdh T A 11: 6,296,638 (GRCm39) C498S possibly damaging Het
Oplah G A 15: 76,181,664 (GRCm39) T1119I probably damaging Het
Or14a256 A T 7: 86,265,639 (GRCm39) F71L probably benign Het
Or2ag15 T C 7: 106,340,601 (GRCm39) E180G probably damaging Het
Or2d2 A T 7: 106,727,717 (GRCm39) D294E possibly damaging Het
Or5ak24 T C 2: 85,260,963 (GRCm39) D70G probably damaging Het
Or5d46 T C 2: 88,170,545 (GRCm39) L212P probably damaging Het
Or6p1 A T 1: 174,258,471 (GRCm39) K159M probably damaging Het
Or8s8 T C 15: 98,354,634 (GRCm39) S148P probably damaging Het
Pcdhb9 T A 18: 37,536,369 (GRCm39) Y788N probably damaging Het
Pcsk5 T C 19: 17,410,782 (GRCm39) D1870G unknown Het
Pde6g A G 11: 120,338,962 (GRCm39) L76P probably damaging Het
Peak1 A T 9: 56,114,073 (GRCm39) Y593N probably damaging Het
Pfas C T 11: 68,885,110 (GRCm39) G16R probably damaging Het
Pkd1l2 A T 8: 117,769,970 (GRCm39) probably null Het
Pla2g3 C T 11: 3,440,983 (GRCm39) T316I probably benign Het
Ptpru T A 4: 131,530,788 (GRCm39) I489F probably damaging Het
Rere T G 4: 150,553,247 (GRCm39) H146Q probably benign Het
Rundc1 A T 11: 101,322,322 (GRCm39) Q272L probably damaging Het
Scml4 T C 10: 42,832,017 (GRCm39) L305P probably damaging Het
Sec16a A T 2: 26,320,144 (GRCm39) H1431Q probably benign Het
Serpina1a G A 12: 103,820,059 (GRCm39) Q373* probably null Het
Shank1 A T 7: 43,974,801 (GRCm39) N377I unknown Het
Shc2 T C 10: 79,462,625 (GRCm39) probably null Het
Slc22a29 C A 19: 8,146,557 (GRCm39) R415M probably benign Het
Slc7a2 A T 8: 41,368,002 (GRCm39) I589F probably damaging Het
Smim8 C T 4: 34,771,316 (GRCm39) R26Q probably damaging Het
Sox5 A G 6: 143,819,831 (GRCm39) S62P possibly damaging Het
Spg21 A C 9: 65,391,774 (GRCm39) K240N probably damaging Het
Sv2c C T 13: 96,113,153 (GRCm39) V599M probably damaging Het
Tanc2 T A 11: 105,801,121 (GRCm39) H1112Q probably damaging Het
Tbata T C 10: 61,011,623 (GRCm39) I58T possibly damaging Het
Tbc1d2 T G 4: 46,606,419 (GRCm39) Y842S probably benign Het
Tctn1 A T 5: 122,379,903 (GRCm39) probably null Het
Tenm1 T C X: 41,916,078 (GRCm39) D402G probably benign Het
Tfcp2l1 T C 1: 118,597,119 (GRCm39) V400A probably benign Het
Tm9sf2 T A 14: 122,363,576 (GRCm39) L99I probably benign Het
Top2a T C 11: 98,886,803 (GRCm39) probably null Het
Traf7 C A 17: 24,732,255 (GRCm39) G191C probably damaging Het
Trpm1 T A 7: 63,879,978 (GRCm39) L661Q probably damaging Het
Ttn T C 2: 76,580,967 (GRCm39) I23309V probably benign Het
Usp50 T C 2: 126,619,881 (GRCm39) K199E possibly damaging Het
Vmn1r218 T C 13: 23,320,683 (GRCm39) F10S probably damaging Het
Vmn2r89 C A 14: 51,694,897 (GRCm39) T459K probably benign Het
Vps13a T G 19: 16,655,302 (GRCm39) S1909R possibly damaging Het
Vwa5b2 T C 16: 20,420,941 (GRCm39) probably null Het
Vwa8 A G 14: 79,219,800 (GRCm39) H516R possibly damaging Het
Wnk1 T C 6: 119,946,208 (GRCm39) I648M probably damaging Het
Zfat G C 15: 68,018,392 (GRCm39) P974R probably benign Het
Zfc3h1 T A 10: 115,259,158 (GRCm39) I1601K probably benign Het
Zfp239 A G 6: 117,848,778 (GRCm39) K172R probably benign Het
Zfp335 C T 2: 164,736,722 (GRCm39) G971D probably damaging Het
Zfp532 A T 18: 65,757,563 (GRCm39) I499F probably damaging Het
Zfp647 T C 15: 76,795,314 (GRCm39) T449A possibly damaging Het
Zfp938 C T 10: 82,061,465 (GRCm39) G385D probably damaging Het
Zfp959 T G 17: 56,204,404 (GRCm39) V147G probably damaging Het
Znfx1 A T 2: 166,892,270 (GRCm39) C649S probably 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
R0411:Smox UTSW 2 131,362,564 (GRCm39) missense probably benign 0.02
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
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'- GATCCAGCAGTACCTGAAGG -3'
(R):5'- ATTGTGATCACCCTCACCACG -3'

Sequencing Primer
(F):5'- GCTGTGGAGTATAGATGCCAG -3'
(R):5'- ACGGGGCTCGATCTCAG -3'
Posted On 2014-08-01