Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Smox'

481290

Institutional Source

Beutler Lab

Gene Symbol

Smox

Ensembl Gene

ENSMUSG00000027333

Gene Name

spermine oxidase

Synonyms

SMO, B130066H01Rik

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R5979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131491496-131525922 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 131516414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 136 (V136I)

Ref Sequence

ENSEMBL: ENSMUSP00000139278 (fasta)

Gene Model

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

AlphaFold

Q99K82

Predicted Effect

probably damaging
Transcript: ENSMUST00000028806
AA Change: V136I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028806
Gene: ENSMUSG00000027333
AA Change: V136I

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: V136I

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105808
Gene: ENSMUSG00000027333
AA Change: V136I

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

probably damaging
Transcript: ENSMUST00000110180
AA Change: V136I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105809
Gene: ENSMUSG00000027333
AA Change: V136I

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

unknown
Transcript: ENSMUST00000110181
AA Change: V136I

SMART Domains

Protein: ENSMUSP00000105810
Gene: ENSMUSG00000027333
AA Change: V136I

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 damaging
Transcript: ENSMUST00000110182
AA Change: V136I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105811
Gene: ENSMUSG00000027333
AA Change: V136I

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 damaging
Transcript: ENSMUST00000110183
AA Change: V136I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105812
Gene: ENSMUSG00000027333
AA Change: V136I

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

probably damaging
Transcript: ENSMUST00000110186
AA Change: V136I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105815
Gene: ENSMUSG00000027333
AA Change: V136I

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 damaging
Transcript: ENSMUST00000110188
AA Change: V136I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105817
Gene: ENSMUSG00000027333
AA Change: V136I

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 damaging
Transcript: ENSMUST00000110189
AA Change: V136I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105818
Gene: ENSMUSG00000027333
AA Change: V136I

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 damaging
Transcript: ENSMUST00000129143
AA Change: V136I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120237
Gene: ENSMUSG00000027333
AA Change: V136I

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: ENSMUST00000131698

SMART Domains

Protein: ENSMUSP00000114956
Gene: ENSMUSG00000027333

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

noncoding transcript
Transcript: ENSMUST00000149180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151627

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 benign
Transcript: ENSMUST00000183881

Predicted Effect

probably damaging
Transcript: ENSMUST00000183947
AA Change: V136I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139278
Gene: ENSMUSG00000027333
AA Change: V136I

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: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109	I103V	possibly damaging	Het
Adam3	T	C	8: 24,677,367	N36S	probably benign	Het
Adamts3	A	G	5: 89,861,669	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400	D1571A	probably damaging	Het
Brd4	T	C	17: 32,198,726	D124G	probably benign	Het
C2cd2	G	A	16: 97,875,218	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281	Y217C	probably damaging	Het
Cfh	C	A	1: 140,118,671	V556F	possibly damaging	Het
Chka	T	G	19: 3,884,513	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543		probably null	Het
Coq10b	T	C	1: 55,052,918	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393		probably null	Het
Dhx35	G	T	2: 158,842,869	R536L	probably benign	Het
Dnah8	G	T	17: 30,815,664	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283		probably null	Het
Dst	T	A	1: 34,160,372		probably benign	Het
Ehbp1	C	A	11: 22,151,887	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923		probably null	Het
Gprin1	G	A	13: 54,739,978	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274		probably null	Het
Mroh7	T	C	4: 106,720,926	N185S	probably benign	Het
Muc2	A	G	7: 141,697,250		probably null	Het
Muc2	G	A	7: 141,751,406	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,548,971	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192	K90E	probably benign	Het
Olfr311	A	G	11: 58,841,840	H242R	probably damaging	Het
Olfr713	G	A	7: 107,036,336	M60I	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Ovch2	G	A	7: 107,794,388	T177I	possibly damaging	Het
Parn	A	C	16: 13,606,171	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746	F1377L	probably damaging	Het
Pign	G	T	1: 105,589,274	S542R	probably benign	Het
Prex2	G	T	1: 11,132,372	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223	N380S	probably benign	Het
Rbm12	A	C	2: 156,097,759		probably benign	Het
Rgl1	A	G	1: 152,557,493	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053	V154A	probably benign	Het
Skiv2l	A	T	17: 34,841,463	N851K	probably benign	Het
Sspo	C	T	6: 48,463,693	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040		probably benign	Het
Zfp213	C	A	17: 23,557,911	E386*	probably null	Het

Other mutations in Smox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01678:Smox	APN	2	131512059	missense	possibly damaging	0.91
IGL02022:Smox	APN	2	131520117	missense	probably damaging	0.98
R0368:Smox	UTSW	2	131522158	missense	probably damaging	1.00
R0411:Smox	UTSW	2	131520644	missense	probably benign	0.02
R1416:Smox	UTSW	2	131522131	missense	probably damaging	1.00
R1601:Smox	UTSW	2	131520174	missense	probably damaging	1.00
R1959:Smox	UTSW	2	131520464	missense	probably damaging	0.97
R2173:Smox	UTSW	2	131512024	missense	possibly damaging	0.91
R2215:Smox	UTSW	2	131520270	critical splice donor site	probably null
R4179:Smox	UTSW	2	131524850	missense	possibly damaging	0.84
R5282:Smox	UTSW	2	131521106	missense	probably damaging	0.99
R5630:Smox	UTSW	2	131524866	nonsense	probably null
R6984:Smox	UTSW	2	131522111	missense	possibly damaging	0.90
R6986:Smox	UTSW	2	131522111	missense	possibly damaging	0.90
R7073:Smox	UTSW	2	131522111	missense	possibly damaging	0.90
R7074:Smox	UTSW	2	131522111	missense	possibly damaging	0.90
R7183:Smox	UTSW	2	131520566	missense	possibly damaging	0.91
R8054:Smox	UTSW	2	131522180	missense	probably benign	0.01
R9222:Smox	UTSW	2	131520923	missense	possibly damaging	0.65
X0026:Smox	UTSW	2	131516235	missense	probably damaging	1.00
Z1176:Smox	UTSW	2	131520541	missense	probably damaging	0.98
Z1177:Smox	UTSW	2	131512086	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGGTCTCTTGTCACTACCAG -3'
(R):5'- CATGAATCCCCACACTGTCCTG -3'

Sequencing Primer
(F):5'- GGTCTCTTGTCACTACCAGGAGAC -3'
(R):5'- ACACTGTCCTGATGCTCACTCAG -3'

Posted On

2017-06-26