Mutagenetix > Incidental Mutation

Incidental Mutation 'R8054:Smox'

619237

Institutional Source

Beutler Lab

Gene Symbol

Smox

Ensembl Gene

ENSMUSG00000027333

Gene Name

spermine oxidase

Synonyms

SMO, B130066H01Rik

MMRRC Submission

067491-MU

Accession Numbers

Essential gene?

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

Stock #

R8054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131333624-131367103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131364100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 468 (S468G)

Ref Sequence

ENSEMBL: ENSMUSP00000105817 (fasta)

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

probably null
Transcript: ENSMUST00000110179
AA Change: *244W

SMART Domains

Protein: ENSMUSP00000105808
Gene: ENSMUSG00000027333
AA Change: *244W

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
AA Change: S468G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105817
Gene: ENSMUSG00000027333
AA Change: S468G

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

probably null
Transcript: ENSMUST00000183881
AA Change: *68W

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,874,272 (GRCm39)	N399S	probably benign	Het
Akap9	T	C	5: 4,088,707 (GRCm39)		probably null	Het
Ankrd17	A	G	5: 90,438,914 (GRCm39)	I483T	probably benign	Het
Arl13b	T	C	16: 62,626,960 (GRCm39)	D247G	probably benign	Het
Brca2	A	G	5: 150,459,969 (GRCm39)	I415V	probably benign	Het
Brpf3	C	A	17: 29,055,571 (GRCm39)	S1173R	probably damaging	Het
Cby2	A	G	14: 75,821,339 (GRCm39)	Y129H	probably benign	Het
Ccar1	A	G	10: 62,583,215 (GRCm39)	L966P	unknown	Het
Cfap61	A	G	2: 145,815,438 (GRCm39)	N249S	probably damaging	Het
Clip4	T	A	17: 72,141,268 (GRCm39)	Y541N	possibly damaging	Het
Csn2	C	T	5: 87,845,886 (GRCm39)		probably null	Het
Cyp2c23	T	G	19: 43,995,555 (GRCm39)	E404A	probably damaging	Het
Cyp2e1	A	G	7: 140,350,871 (GRCm39)	E281G	possibly damaging	Het
Cyp2r1	T	A	7: 114,151,319 (GRCm39)		probably null	Het
D430041D05Rik	T	A	2: 103,985,390 (GRCm39)	I1226F	possibly damaging	Het
Dbx1	A	T	7: 49,282,498 (GRCm39)	W236R	probably damaging	Het
Dcp2	T	G	18: 44,538,774 (GRCm39)	N251K	probably benign	Het
Disp1	A	T	1: 182,869,812 (GRCm39)	Y869*	probably null	Het
Dnajc8	T	A	4: 132,272,068 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,621,226 (GRCm39)	N822D	probably benign	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Eml3	A	T	19: 8,916,414 (GRCm39)	T670S	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbn1	A	T	2: 125,187,938 (GRCm39)	D1530E	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hsd3b3	A	T	3: 98,649,331 (GRCm39)	Y331N	probably damaging	Het
Ino80d	T	C	1: 63,097,837 (GRCm39)	R791G	possibly damaging	Het
Itprid1	A	T	6: 55,953,424 (GRCm39)	K913N	probably damaging	Het
Jade2	T	C	11: 51,709,441 (GRCm39)	R523G	probably benign	Het
Kmt2d	A	T	15: 98,741,806 (GRCm39)	D4451E	unknown	Het
Lax1	T	C	1: 133,611,345 (GRCm39)	T76A	probably benign	Het
Map4k1	A	G	7: 28,689,181 (GRCm39)		probably benign	Het
Mcu	G	A	10: 59,290,817 (GRCm39)	T121M	probably damaging	Het
Mepce	T	A	5: 137,783,004 (GRCm39)	K441*	probably null	Het
Mettl21e	C	A	1: 44,245,815 (GRCm39)	V144F	probably damaging	Het
Muc6	T	A	7: 141,231,748 (GRCm39)	S1049C	probably damaging	Het
Myh14	C	T	7: 44,274,551 (GRCm39)	V1246M	probably damaging	Het
Myo3a	A	T	2: 22,464,329 (GRCm39)	Q1128L	probably benign	Het
Nat8f2	T	C	6: 85,844,754 (GRCm39)	S203G	probably benign	Het
Npas2	A	G	1: 39,326,652 (GRCm39)	T46A	possibly damaging	Het
Nup133	T	C	8: 124,675,956 (GRCm39)		probably benign	Het
Oplah	C	T	15: 76,190,457 (GRCm39)	R102H	probably benign	Het
Or1x6	T	A	11: 50,939,090 (GRCm39)	I52N	probably benign	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or5g29	A	T	2: 85,421,184 (GRCm39)	Q100L	probably damaging	Het
Or6d13	A	G	6: 116,517,960 (GRCm39)	H182R	probably damaging	Het
Or8g20	C	A	9: 39,396,033 (GRCm39)	C172F	probably damaging	Het
Osgep	C	T	14: 51,162,128 (GRCm39)		probably benign	Het
Pam	A	T	1: 97,768,114 (GRCm39)	D705E	probably damaging	Het
Pkd1l3	C	G	8: 110,373,008 (GRCm39)	N1284K	probably damaging	Het
Plekhg2	A	G	7: 28,064,741 (GRCm39)	F407S	probably damaging	Het
Pygl	A	G	12: 70,274,113 (GRCm39)		probably null	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rhobtb1	A	G	10: 69,084,720 (GRCm39)	N37S	probably damaging	Het
Sema6a	T	A	18: 47,424,972 (GRCm39)	D213V	probably damaging	Het
Skint11	A	T	4: 114,101,806 (GRCm39)	Q273L	possibly damaging	Het
Skint7	A	T	4: 111,839,426 (GRCm39)	H240L	probably benign	Het
Slc12a2	C	T	18: 58,054,944 (GRCm39)	Q862*	probably null	Het
Spc25	A	G	2: 69,035,257 (GRCm39)	S50P	probably damaging	Het
Srrm1	A	T	4: 135,052,326 (GRCm39)	S683T	unknown	Het
Syne1	T	C	10: 5,220,970 (GRCm39)	E3103G	probably benign	Het
Tenm4	C	A	7: 96,378,553 (GRCm39)		probably benign	Het
Tent4b	T	A	8: 88,974,186 (GRCm39)	I294N	probably damaging	Het
Tmem123	T	C	9: 7,791,064 (GRCm39)	S122P	possibly damaging	Het
Trav18	A	T	14: 54,068,572 (GRCm39)	K4I	probably benign	Het
Triml1	T	C	8: 43,583,420 (GRCm39)	S394G	probably damaging	Het
Ubr4	A	T	4: 139,195,413 (GRCm39)	S1212C	unknown	Het
Usp34	G	A	11: 23,311,295 (GRCm39)	R442Q		Het
Usp43	G	A	11: 67,782,284 (GRCm39)	P378L	probably damaging	Het
Vmn1r212	A	G	13: 23,067,935 (GRCm39)	F133L	probably benign	Het
Vmn1r213	A	G	13: 23,195,910 (GRCm39)	I164M	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,998 (GRCm39)	P347S	probably damaging	Het
Zfp106	A	T	2: 120,355,000 (GRCm39)	V1280E	possibly damaging	Het
Zfp317	T	C	9: 19,553,265 (GRCm39)	S13P	probably benign	Het
Zfp608	C	A	18: 55,032,618 (GRCm39)	A441S	probably benign	Het
Zup1	T	C	10: 33,816,248 (GRCm39)	D232G	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
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
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'- TCTTGAAGCCCAGGAGTTAAGAG -3'
(R):5'- TTTCACCATGGGAGCCAACC -3'

Sequencing Primer
(F):5'- CCCAGGAGTTAAGAGGATTGTCTG -3'
(R):5'- GGAGCCAACCCCATCGTTC -3'

Posted On

2020-01-23