Incidental Mutation 'R1416:Smox'
| ID |
159569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smox
|
| Ensembl Gene |
ENSMUSG00000027333 |
| Gene Name |
spermine oxidase |
| Synonyms |
SMO, B130066H01Rik |
| MMRRC Submission |
039472-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.330)
|
| Stock # |
R1416 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
131333624-131367103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 131364051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 481
(S481F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028806]
[ENSMUST00000110179]
[ENSMUST00000110180]
[ENSMUST00000110181]
[ENSMUST00000110182]
[ENSMUST00000110183]
[ENSMUST00000110186]
[ENSMUST00000183575]
[ENSMUST00000110189]
[ENSMUST00000129143]
[ENSMUST00000183947]
[ENSMUST00000110188]
|
| AlphaFold |
Q99K82 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028806
AA Change: S481F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028806
Gene: ENSMUSG00000027333
AA Change: S481F
| 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: P228S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105808
Gene: ENSMUSG00000027333
AA Change: P228S
| 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: S345F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105809
Gene: ENSMUSG00000027333
AA Change: S345F
| 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 damaging
Transcript: ENSMUST00000110181
AA Change: S311F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105810
Gene: ENSMUSG00000027333
AA Change: S311F
| 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 |
probably damaging
Transcript: ENSMUST00000110186
AA Change: S481F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105815
Gene: ENSMUSG00000027333
AA Change: S481F
| 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 |
unknown
Transcript: ENSMUST00000183881
AA Change: P52S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151143
|
| 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: 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9669 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
94% (63/67) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
C |
9: 103,950,822 (GRCm39) |
S49P |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,674,238 (GRCm39) |
I250T |
possibly damaging |
Het |
| Alox5 |
G |
A |
6: 116,400,106 (GRCm39) |
Q278* |
probably null |
Het |
| Anxa7 |
G |
A |
14: 20,512,775 (GRCm39) |
R253C |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,243,164 (GRCm39) |
T1059S |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 112,008,197 (GRCm39) |
E101G |
probably damaging |
Het |
| Bcr |
A |
T |
10: 74,897,338 (GRCm39) |
I161F |
possibly damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,845,140 (GRCm39) |
E1309G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cep41 |
C |
T |
6: 30,657,356 (GRCm39) |
S233N |
probably damaging |
Het |
| Col5a1 |
T |
G |
2: 27,812,076 (GRCm39) |
S53A |
unknown |
Het |
| Cplane1 |
C |
T |
15: 8,276,422 (GRCm39) |
Q2689* |
probably null |
Het |
| Efnb2 |
A |
G |
8: 8,672,329 (GRCm39) |
|
probably null |
Het |
| Epb41l5 |
T |
C |
1: 119,477,606 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
A |
G |
7: 119,390,397 (GRCm39) |
F77S |
probably damaging |
Het |
| Ern1 |
C |
T |
11: 106,312,806 (GRCm39) |
|
probably benign |
Het |
| Eya3 |
T |
C |
4: 132,434,440 (GRCm39) |
|
probably benign |
Het |
| Icos |
T |
C |
1: 61,033,802 (GRCm39) |
L144P |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,690,591 (GRCm39) |
V717A |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,742,019 (GRCm39) |
E232G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,888,228 (GRCm39) |
I2344T |
probably damaging |
Het |
| Mettl5 |
A |
T |
2: 69,701,633 (GRCm39) |
F207I |
possibly damaging |
Het |
| Mtor |
G |
T |
4: 148,575,871 (GRCm39) |
E1342* |
probably null |
Het |
| Nrap |
A |
G |
19: 56,315,725 (GRCm39) |
Y1360H |
possibly damaging |
Het |
| Nsun7 |
T |
C |
5: 66,418,423 (GRCm39) |
V51A |
probably damaging |
Het |
| Or5an11 |
C |
A |
19: 12,246,258 (GRCm39) |
F221L |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,469 (GRCm39) |
L228P |
probably damaging |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Or8k27 |
T |
C |
2: 86,275,664 (GRCm39) |
I221V |
probably benign |
Het |
| Or9m1b |
T |
A |
2: 87,836,915 (GRCm39) |
Y60F |
probably damaging |
Het |
| Otud6b |
A |
C |
4: 14,818,473 (GRCm39) |
L143V |
probably damaging |
Het |
| Pabir2 |
T |
C |
X: 52,335,023 (GRCm39) |
*256W |
probably null |
Het |
| Pp2d1 |
T |
C |
17: 53,822,835 (GRCm39) |
N77S |
probably benign |
Het |
| Ppp4r3c2 |
A |
T |
X: 88,797,283 (GRCm39) |
M372L |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,699,273 (GRCm39) |
G26* |
probably null |
Het |
| Rarb |
T |
C |
14: 16,435,177 (GRCm38) |
M290V |
possibly damaging |
Het |
| Rusc2 |
A |
G |
4: 43,421,617 (GRCm39) |
E679G |
possibly damaging |
Het |
| Scap |
T |
C |
9: 110,213,841 (GRCm39) |
V1268A |
probably damaging |
Het |
| Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
| Shisa3 |
C |
G |
5: 67,768,777 (GRCm39) |
P226A |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,531,453 (GRCm39) |
V2570A |
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Sult4a1 |
C |
T |
15: 83,970,847 (GRCm39) |
R186Q |
probably benign |
Het |
| Taf2 |
G |
T |
15: 54,901,806 (GRCm39) |
A796E |
possibly damaging |
Het |
| Taf4b |
T |
C |
18: 14,954,484 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,898,041 (GRCm39) |
Q593K |
probably benign |
Het |
| Tigd3 |
T |
C |
19: 5,941,753 (GRCm39) |
D459G |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,591,400 (GRCm39) |
L472Q |
probably damaging |
Het |
| Tmem169 |
G |
T |
1: 72,339,875 (GRCm39) |
V102F |
probably damaging |
Het |
| Tmem241 |
T |
C |
18: 12,126,631 (GRCm39) |
T274A |
probably benign |
Het |
| Trip10 |
A |
G |
17: 57,557,800 (GRCm39) |
Y28C |
probably damaging |
Het |
| Ubp1 |
T |
C |
9: 113,799,239 (GRCm39) |
V398A |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,775,415 (GRCm39) |
Y567C |
probably damaging |
Het |
| Uckl1 |
A |
T |
2: 181,211,362 (GRCm39) |
M489K |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,169,080 (GRCm39) |
P1074S |
probably damaging |
Het |
| Vmn1r62 |
T |
C |
7: 5,678,904 (GRCm39) |
V195A |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,577,339 (GRCm39) |
I400L |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,800,824 (GRCm39) |
I371F |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,633,568 (GRCm39) |
T940A |
probably benign |
Het |
| Zfp105 |
A |
T |
9: 122,759,742 (GRCm39) |
Y471F |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,166 (GRCm39) |
H580Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAATACAGCTTGAGTCCAGCCCC -3'
(R):5'- TGCCCTTAGTGAACACTACCCCAG -3'
Sequencing Primer
(F):5'- CTTGATTGTCTTGAAGCCCAG -3'
(R):5'- GCCCTCCTCCCCTGGAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation