Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01678:Smox'

103717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smox

Ensembl Gene

ENSMUSG00000027333

Gene Name

spermine oxidase

Synonyms

SMO, B130066H01Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

IGL01678

Quality Score

Status

Chromosome

Chromosomal Location

131333624-131367103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 131353979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 17 (R17H)

Ref Sequence

ENSEMBL: ENSMUSP00000114956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028806] [ENSMUST00000110179] [ENSMUST00000110180] [ENSMUST00000110181] [ENSMUST00000110182] [ENSMUST00000110183] [ENSMUST00000110186] [ENSMUST00000110188] [ENSMUST00000183947] [ENSMUST00000110189] [ENSMUST00000131698] [ENSMUST00000183575] [ENSMUST00000129143]

AlphaFold

Q99K82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028806
AA Change: R17H

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028806
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000110179
AA Change: R17H

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105808
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000110180
AA Change: R17H

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105809
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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
AA Change: R17H

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105810
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000110182
AA Change: R17H

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105811
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000110183
AA Change: R17H

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105812
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000110186
AA Change: R17H

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105815
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000110188
AA Change: R17H

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105817
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000183947
AA Change: R17H

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139278
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000110189
AA Change: R17H

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105818
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000131698
AA Change: R17H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114956
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	24	56	1.1e-6	PFAM
Pfam:DAO	26	56	8.1e-9	PFAM
Pfam:FAD_binding_2	26	56	2.9e-8	PFAM
Pfam:NAD_binding_8	29	56	6.5e-9	PFAM
Pfam:Amino_oxidase	34	56	1.3e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183575
AA Change: R17H

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139099
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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: ENSMUST00000129143
AA Change: R17H

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120237
Gene: ENSMUSG00000027333
AA Change: R17H

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000149180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151627

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,443 (GRCm39)	M236K	probably benign	Het
Abcc1	T	A	16: 14,222,883 (GRCm39)	M186K	probably null	Het
Adamts3	T	C	5: 89,855,715 (GRCm39)	N385S	probably damaging	Het
Adamts6	T	C	13: 104,450,196 (GRCm39)	V299A	probably damaging	Het
Angel1	T	C	12: 86,763,800 (GRCm39)	E500G	probably benign	Het
Car9	T	C	4: 43,512,941 (GRCm39)		probably benign	Het
Colec11	A	G	12: 28,644,867 (GRCm39)	F209S	probably damaging	Het
Dnaaf10	T	C	11: 17,182,790 (GRCm39)	V317A	probably benign	Het
Dock10	A	G	1: 80,521,069 (GRCm39)	Y1179H	probably damaging	Het
Ece1	T	A	4: 137,690,044 (GRCm39)	W697R	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Flii	G	T	11: 60,607,672 (GRCm39)		probably benign	Het
Frmpd1	T	A	4: 45,243,717 (GRCm39)	D63E	probably damaging	Het
Ftmt	A	T	18: 52,465,206 (GRCm39)	H174L	probably damaging	Het
Gpr37l1	A	G	1: 135,094,791 (GRCm39)	V151A	probably damaging	Het
Inppl1	T	C	7: 101,481,803 (GRCm39)	T180A	probably benign	Het
Klhdc4	T	C	8: 122,523,677 (GRCm39)	D513G	possibly damaging	Het
Klrb1a	A	G	6: 128,595,411 (GRCm39)		probably benign	Het
Nit1	A	G	1: 171,170,262 (GRCm39)	V270A	probably damaging	Het
Or6c5	A	C	10: 129,074,537 (GRCm39)	D173A	possibly damaging	Het
Phox2b	T	A	5: 67,256,262 (GRCm39)	Y8F	probably damaging	Het
Psg20	T	A	7: 18,414,795 (GRCm39)	S364C	probably damaging	Het
Rab38	T	A	7: 88,079,740 (GRCm39)	V44E	probably damaging	Het
Rapgef4	T	C	2: 72,072,569 (GRCm39)		probably benign	Het
Ror1	C	T	4: 100,283,165 (GRCm39)	P410L	possibly damaging	Het
Rptn	A	G	3: 93,304,118 (GRCm39)	N484D	probably benign	Het
Sirpb1a	G	T	3: 15,476,370 (GRCm39)	S142R	probably damaging	Het
Top6bl	T	A	19: 4,722,193 (GRCm39)	I76L	possibly damaging	Het
Trpm7	A	T	2: 126,658,719 (GRCm39)	C1146S	probably damaging	Het
Upf3a	C	T	8: 13,841,930 (GRCm39)	A155V	probably benign	Het
Vmn1r212	A	T	13: 23,068,081 (GRCm39)	V84D	probably damaging	Het
Vmn2r40	T	C	7: 8,923,105 (GRCm39)	N419D	probably damaging	Het
Zfp143	C	A	7: 109,679,558 (GRCm39)		probably benign	Het
Zmat4	T	A	8: 24,392,064 (GRCm39)	C7S	probably damaging	Het

Other mutations in Smox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-01-21