Mutagenetix > Incidental Mutation

Incidental Mutation 'R7073:Smox'

549007

Institutional Source

Beutler Lab

Gene Symbol

Smox

Ensembl Gene

ENSMUSG00000027333

Gene Name

spermine oxidase

Synonyms

SMO, B130066H01Rik

MMRRC Submission

045169-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

R7073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131333624-131367103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131364031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 45 (A45V)

Gene Model

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

AlphaFold

Q99K82

Predicted Effect

silent
Transcript: ENSMUST00000028806

SMART Domains

Protein: ENSMUSP00000028806
Gene: ENSMUSG00000027333

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: A221V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105808
Gene: ENSMUSG00000027333
AA Change: A221V

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

silent
Transcript: ENSMUST00000110180

SMART Domains

Protein: ENSMUSP00000105809
Gene: ENSMUSG00000027333

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

silent
Transcript: ENSMUST00000110181

SMART Domains

Protein: ENSMUSP00000105810
Gene: ENSMUSG00000027333

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

probably benign
Transcript: ENSMUST00000110182

SMART Domains

Protein: ENSMUSP00000105811
Gene: ENSMUSG00000027333

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

probably benign
Transcript: ENSMUST00000110183

SMART Domains

Protein: ENSMUSP00000105812
Gene: ENSMUSG00000027333

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

silent
Transcript: ENSMUST00000110186

SMART Domains

Protein: ENSMUSP00000105815
Gene: ENSMUSG00000027333

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

probably benign
Transcript: ENSMUST00000110188

SMART Domains

Protein: ENSMUSP00000105817
Gene: ENSMUSG00000027333

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

probably benign
Transcript: ENSMUST00000110189

SMART Domains

Protein: ENSMUSP00000105818
Gene: ENSMUSG00000027333

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

probably benign
Transcript: ENSMUST00000129143

SMART Domains

Protein: ENSMUSP00000120237
Gene: ENSMUSG00000027333

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

probably benign
Transcript: ENSMUST00000183575

SMART Domains

Protein: ENSMUSP00000139099
Gene: ENSMUSG00000027333

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

possibly damaging
Transcript: ENSMUST00000183881
AA Change: A45V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000183947

SMART Domains

Protein: ENSMUSP00000139278
Gene: ENSMUSG00000027333

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	G	13: 81,709,593 (GRCm39)	E1133D	probably damaging	Het
Ankrd13b	A	T	11: 77,363,335 (GRCm39)	D505E	probably benign	Het
Ano1	C	T	7: 144,192,289 (GRCm39)	E361K	probably damaging	Het
Arap3	T	A	18: 38,107,495 (GRCm39)	K1341*	probably null	Het
Arhgef17	A	C	7: 100,579,198 (GRCm39)	Y583*	probably null	Het
Ash1l	G	A	3: 88,892,647 (GRCm39)	E1509K	probably damaging	Het
B430305J03Rik	T	G	3: 61,271,681 (GRCm39)	R21S	unknown	Het
Bbof1	A	G	12: 84,473,609 (GRCm39)	E313G	probably damaging	Het
Catsperb	C	T	12: 101,475,497 (GRCm39)	T347I	probably benign	Het
Ccdc24	G	T	4: 117,729,201 (GRCm39)	A92D	probably damaging	Het
Ccdc63	T	C	5: 122,249,073 (GRCm39)	T419A	probably benign	Het
Ccdc7a	C	T	8: 129,618,866 (GRCm39)	V893I	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,330 (GRCm39)	D537E	probably benign	Het
Cd276	T	C	9: 58,444,615 (GRCm39)	S119G	probably damaging	Het
Cdkn3	T	C	14: 47,004,647 (GRCm39)	Y70H	possibly damaging	Het
Cdo1	G	A	18: 46,861,266 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,581,247 (GRCm39)	F10Y	probably damaging	Het
Cep290	A	T	10: 100,374,865 (GRCm39)	K1370N	possibly damaging	Het
Crb1	T	A	1: 139,176,049 (GRCm39)	I645F	probably damaging	Het
Cul7	T	C	17: 46,969,657 (GRCm39)	W975R	probably damaging	Het
Ddx39b	A	C	17: 35,471,826 (GRCm39)	E324A	probably benign	Het
Diaph1	T	G	18: 38,022,867 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,321,318 (GRCm39)	R3917*	probably null	Het
Dnph1	T	A	17: 46,807,815 (GRCm39)	L27Q	probably damaging	Het
Duox2	A	G	2: 122,119,788 (GRCm39)	F880S	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Enpep	A	T	3: 129,106,319 (GRCm39)	Y302*	probably null	Het
Ergic2	G	T	6: 148,096,707 (GRCm39)	H186Q	probably damaging	Het
Fam83b	T	C	9: 76,453,031 (GRCm39)	D12G	probably benign	Het
Fbxw16	A	T	9: 109,270,123 (GRCm39)	V206D	probably damaging	Het
Fhod1	A	T	8: 106,063,771 (GRCm39)	V278D	unknown	Het
Gba2	G	C	4: 43,573,753 (GRCm39)	Q180E	probably damaging	Het
Grhl3	G	A	4: 135,300,723 (GRCm39)	L5F	probably benign	Het
H2-T15	A	T	17: 36,369,235 (GRCm39)	C7S	unknown	Het
Ifit1bl1	C	T	19: 34,576,667 (GRCm39)		probably null	Het
Ift57	A	G	16: 49,584,230 (GRCm39)	T413A	probably benign	Het
Itga2	A	G	13: 114,996,149 (GRCm39)	F714S	probably damaging	Het
Jmy	A	G	13: 93,577,841 (GRCm39)	S776P	probably benign	Het
Kbtbd8	G	A	6: 95,098,814 (GRCm39)	A108T	probably damaging	Het
Kpna6	G	A	4: 129,548,139 (GRCm39)	A230V	probably damaging	Het
Lrfn1	C	T	7: 28,159,397 (GRCm39)	L439F	possibly damaging	Het
Lrrc1	T	A	9: 77,375,847 (GRCm39)	I147F	probably benign	Het
Lrrc7	C	T	3: 157,832,884 (GRCm39)	G1425R	probably damaging	Het
Madd	T	A	2: 90,992,854 (GRCm39)	I1022F	probably damaging	Het
Map2k2	A	T	10: 80,942,017 (GRCm39)	T13S	probably benign	Het
Mdc1	G	A	17: 36,164,960 (GRCm39)	V1459I	probably benign	Het
Mdh1b	G	A	1: 63,760,719 (GRCm39)	T114M	probably damaging	Het
Mfsd2a	T	C	4: 122,845,088 (GRCm39)	I208V	possibly damaging	Het
Mmrn1	T	A	6: 60,965,411 (GRCm39)	D1147E	probably damaging	Het
Nbeal2	T	A	9: 110,455,177 (GRCm39)	I2574F	probably damaging	Het
Nr1d1	T	G	11: 98,662,892 (GRCm39)	S34R	probably damaging	Het
Nr3c1	A	T	18: 39,619,449 (GRCm39)	D279E	probably benign	Het
Nrde2	T	C	12: 100,098,747 (GRCm39)	D640G	probably benign	Het
Odf4	A	G	11: 68,817,514 (GRCm39)	L58P	probably damaging	Het
Or4k41	A	T	2: 111,279,631 (GRCm39)	I49F	probably benign	Het
Or4p22	A	T	2: 88,317,651 (GRCm39)	I192F	probably benign	Het
Otud6b	A	C	4: 14,811,743 (GRCm39)	M300R	probably damaging	Het
Pamr1	T	A	2: 102,471,280 (GRCm39)	D534E	probably benign	Het
Pcdh7	T	A	5: 57,878,299 (GRCm39)	V618E	probably benign	Het
Pcgf6	A	C	19: 47,031,226 (GRCm39)	N266K	possibly damaging	Het
Plcz1	A	T	6: 139,968,849 (GRCm39)	Y196*	probably null	Het
Plxna1	A	T	6: 89,334,311 (GRCm39)	L106Q	probably damaging	Het
Qrich2	G	A	11: 116,337,701 (GRCm39)	A184V	probably damaging	Het
Rimkla	A	G	4: 119,325,275 (GRCm39)	L378S	probably benign	Het
Rufy1	G	T	11: 50,295,290 (GRCm39)	H472Q	probably benign	Het
Samd7	T	A	3: 30,810,631 (GRCm39)	M216K	probably benign	Het
Samd9l	A	T	6: 3,375,856 (GRCm39)	Y468*	probably null	Het
Scn2a	T	G	2: 65,558,787 (GRCm39)	L1194R	probably benign	Het
Sgo2a	T	A	1: 58,056,944 (GRCm39)	S1043T	possibly damaging	Het
Slc6a17	G	T	3: 107,378,755 (GRCm39)	H642Q	probably benign	Het
St6galnac3	T	A	3: 153,117,274 (GRCm39)	T150S	possibly damaging	Het
Strip2	T	A	6: 29,941,911 (GRCm39)	I627N	possibly damaging	Het
Sv2c	A	T	13: 96,224,758 (GRCm39)	C184S	probably damaging	Het
Tm7sf2	A	T	19: 6,116,527 (GRCm39)		probably null	Het
Ttc28	T	C	5: 111,371,282 (GRCm39)	I608T	possibly damaging	Het
Vmn1r183	T	G	7: 23,754,926 (GRCm39)	L243R	probably damaging	Het
Vmn1r68	T	C	7: 10,261,778 (GRCm39)	T107A	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Zfp516	T	A	18: 83,006,325 (GRCm39)		probably null	Het
Zpbp2	A	G	11: 98,443,335 (GRCm39)	D56G	probably damaging	Het

Other mutations in Smox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CCTGACTGCTTGATTGTCTTGAAG -3'
(R):5'- TTTCACCATGGGAGCCAACC -3'

Sequencing Primer
(F):5'- ATTGTCTTGAAGCCCAGGAG -3'
(R):5'- ATGGTGCCCTTAGTGAACAC -3'

Posted On

2019-05-15