Incidental Mutation 'R6034:Selenoo'
| ID |
486464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selenoo
|
| Ensembl Gene |
ENSMUSG00000035757 |
| Gene Name |
selenoprotein O |
| Synonyms |
Selo, 1300018J18Rik |
| MMRRC Submission |
044206-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R6034 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88973287-88984543 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88983546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 529
(K529R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082439]
[ENSMUST00000109353]
[ENSMUST00000130700]
[ENSMUST00000166480]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041656
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1667 |
3.3e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082439
AA Change: K529R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000081020
Gene: ENSMUSG00000035757
AA Change: K529R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
|
Pfam:UPF0061
|
79 |
625 |
8.3e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109353
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1675 |
2.8e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130700
|
| SMART Domains |
Protein: ENSMUSP00000138382
Gene: ENSMUSG00000035757
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
|
Pfam:UPF0061
|
80 |
241 |
1.5e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163290
|
| SMART Domains |
Protein: ENSMUSP00000131359
Gene: ENSMUSG00000051786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
91 |
288 |
2.9e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164717
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166480
|
| SMART Domains |
Protein: ENSMUSP00000132108
Gene: ENSMUSG00000051786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
2 |
123 |
5e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169069
|
| SMART Domains |
Protein: ENSMUSP00000132786
Gene: ENSMUSG00000051786
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
77 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170877
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (55/57) |
| MGI Phenotype |
FUNCTION: This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
G |
T |
1: 34,760,984 (GRCm39) |
G80V |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Atad2 |
A |
T |
15: 57,971,959 (GRCm39) |
L306Q |
probably damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,659,645 (GRCm39) |
|
probably null |
Het |
| Atp6v1c2 |
C |
A |
12: 17,357,501 (GRCm39) |
G95V |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,922,278 (GRCm39) |
V2192E |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,542,091 (GRCm39) |
E597G |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,133,898 (GRCm39) |
M556V |
possibly damaging |
Het |
| Ccin |
G |
A |
4: 43,985,354 (GRCm39) |
R587K |
probably benign |
Het |
| Cdipt |
T |
G |
7: 126,577,497 (GRCm39) |
V81G |
probably damaging |
Het |
| Cert1 |
A |
C |
13: 96,746,308 (GRCm39) |
I236L |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,090,869 (GRCm39) |
K40E |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,196,872 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
T |
1: 46,496,418 (GRCm39) |
D101V |
probably benign |
Het |
| Fastkd3 |
T |
A |
13: 68,731,729 (GRCm39) |
W17R |
probably damaging |
Het |
| Gapdh |
T |
C |
6: 125,142,261 (GRCm39) |
D25G |
probably benign |
Het |
| H1f4 |
A |
G |
13: 23,806,296 (GRCm39) |
L62P |
probably damaging |
Het |
| H2-Ob |
T |
C |
17: 34,460,192 (GRCm39) |
V30A |
probably damaging |
Het |
| Hmgxb3 |
T |
A |
18: 61,265,594 (GRCm39) |
H1128L |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,680,711 (GRCm39) |
I255N |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,482,537 (GRCm39) |
D91G |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,944,666 (GRCm39) |
D462E |
possibly damaging |
Het |
| Kcnip4 |
G |
T |
5: 48,548,283 (GRCm39) |
R241S |
possibly damaging |
Het |
| Lilra5 |
T |
C |
7: 4,245,133 (GRCm39) |
L259P |
probably benign |
Het |
| Lipf |
T |
C |
19: 33,942,289 (GRCm39) |
I73T |
probably benign |
Het |
| Lsm7 |
T |
C |
10: 80,688,742 (GRCm39) |
|
probably null |
Het |
| Luzp2 |
T |
A |
7: 54,816,972 (GRCm39) |
L141M |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,850,137 (GRCm39) |
V1252E |
possibly damaging |
Het |
| Map10 |
T |
C |
8: 126,399,205 (GRCm39) |
L866P |
probably damaging |
Het |
| Mink1 |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 70,497,866 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,460 (GRCm39) |
I355V |
possibly damaging |
Het |
| Mtrf1l |
T |
A |
10: 5,773,834 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,163,187 (GRCm39) |
T339S |
probably benign |
Het |
| Naa15 |
A |
G |
3: 51,350,242 (GRCm39) |
D163G |
probably damaging |
Het |
| Oosp2 |
A |
G |
19: 11,628,879 (GRCm39) |
F74S |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4f7 |
T |
A |
2: 111,644,702 (GRCm39) |
Y123F |
probably damaging |
Het |
| Pard3 |
C |
G |
8: 127,791,077 (GRCm39) |
|
probably benign |
Het |
| Pcdha1 |
T |
A |
18: 37,063,651 (GRCm39) |
I105N |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,895,601 (GRCm39) |
T224A |
possibly damaging |
Het |
| Phf12 |
A |
G |
11: 77,908,895 (GRCm39) |
N325S |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,201,750 (GRCm39) |
|
probably null |
Het |
| Raet1e |
A |
G |
10: 22,057,990 (GRCm39) |
*252W |
probably null |
Het |
| Sap130 |
T |
C |
18: 31,822,459 (GRCm39) |
V655A |
possibly damaging |
Het |
| Sec16b |
A |
T |
1: 157,380,509 (GRCm39) |
K360I |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,351,927 (GRCm39) |
T101I |
possibly damaging |
Het |
| Slc22a15 |
A |
G |
3: 101,770,235 (GRCm39) |
F451L |
possibly damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,982 (GRCm39) |
S339T |
probably benign |
Het |
| Stard13 |
A |
T |
5: 151,018,965 (GRCm39) |
|
probably null |
Het |
| Synm |
A |
G |
7: 67,384,653 (GRCm39) |
V561A |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,617,460 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
T |
A |
5: 87,229,377 (GRCm39) |
D236V |
probably damaging |
Het |
| Vmn1r65 |
A |
G |
7: 6,011,868 (GRCm39) |
L122P |
probably damaging |
Het |
| Zc3h14 |
T |
C |
12: 98,737,632 (GRCm39) |
S40P |
probably benign |
Het |
| Zc3hav1l |
C |
A |
6: 38,272,215 (GRCm39) |
G185C |
probably damaging |
Het |
| Zfp563 |
G |
A |
17: 33,323,935 (GRCm39) |
A177T |
probably damaging |
Het |
|
| Other mutations in Selenoo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:Selenoo
|
APN |
15 |
88,979,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01922:Selenoo
|
APN |
15 |
88,983,852 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02103:Selenoo
|
APN |
15 |
88,984,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Selenoo
|
UTSW |
15 |
88,979,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0960:Selenoo
|
UTSW |
15 |
88,980,957 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1610:Selenoo
|
UTSW |
15 |
88,984,119 (GRCm39) |
missense |
probably benign |
|
|
R2152:Selenoo
|
UTSW |
15 |
88,983,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4177:Selenoo
|
UTSW |
15 |
88,983,662 (GRCm39) |
unclassified |
probably benign |
|
|
R4588:Selenoo
|
UTSW |
15 |
88,980,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4622:Selenoo
|
UTSW |
15 |
88,979,910 (GRCm39) |
nonsense |
probably null |
|
|
R4731:Selenoo
|
UTSW |
15 |
88,983,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4926:Selenoo
|
UTSW |
15 |
88,983,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4934:Selenoo
|
UTSW |
15 |
88,982,970 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4999:Selenoo
|
UTSW |
15 |
88,978,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Selenoo
|
UTSW |
15 |
88,978,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Selenoo
|
UTSW |
15 |
88,976,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Selenoo
|
UTSW |
15 |
88,978,508 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6034:Selenoo
|
UTSW |
15 |
88,983,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7238:Selenoo
|
UTSW |
15 |
88,973,427 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7287:Selenoo
|
UTSW |
15 |
88,982,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7378:Selenoo
|
UTSW |
15 |
88,973,681 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7818:Selenoo
|
UTSW |
15 |
88,981,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8058:Selenoo
|
UTSW |
15 |
88,976,942 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9233:Selenoo
|
UTSW |
15 |
88,984,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACTTGAGATCTGTAGAAACAC -3'
(R):5'- GAATTGCATGCCCCATGACC -3'
Sequencing Primer
(F):5'- CTTGAGATCTGTAGAAACACCCGGG -3'
(R):5'- AATTCAGGGCCATCTGCAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation