Incidental Mutation 'IGL00808:Selenov'
| ID |
9242 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Selenov
|
| Ensembl Gene |
ENSMUSG00000046750 |
| Gene Name |
selenoprotein V |
| Synonyms |
BC089491 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL00808
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
27984077-27990611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27989851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 218
(S218P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056589]
[ENSMUST00000108315]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056589
AA Change: S218P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000050372
Gene: ENSMUSG00000046750
AA Change: S218P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
|
Pfam:Rdx
|
246 |
324 |
4.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108315
|
| SMART Domains |
Protein: ENSMUSP00000103951
Gene: ENSMUSG00000003436
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Blast:EGF
|
60 |
118 |
3e-18 |
BLAST |
|
low complexity region
|
140 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
EGF
|
211 |
247 |
1.53e1 |
SMART |
|
EGF
|
275 |
308 |
3.08e-6 |
SMART |
|
EGF
|
313 |
349 |
8.25e-7 |
SMART |
|
EGF
|
354 |
387 |
2.83e-5 |
SMART |
|
EGF
|
392 |
425 |
1.04e-3 |
SMART |
|
EGF
|
430 |
463 |
7.07e-6 |
SMART |
|
transmembrane domain
|
489 |
511 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108316
AA Change: S218P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103952
Gene: ENSMUSG00000046750
AA Change: S218P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
|
Pfam:Rdx
|
245 |
320 |
4.4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138721
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156408
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a selenoproteim that contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
A |
G |
7: 28,314,377 (GRCm39) |
I297T |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,609,908 (GRCm39) |
E131G |
possibly damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,290,960 (GRCm39) |
L1491S |
probably benign |
Het |
| Arid4b |
T |
C |
13: 14,310,846 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
A |
1: 139,389,214 (GRCm39) |
S626T |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,897,571 (GRCm39) |
S238P |
probably damaging |
Het |
| Clns1a |
A |
G |
7: 97,365,721 (GRCm39) |
H241R |
probably damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,298,246 (GRCm39) |
F212L |
probably benign |
Het |
| Epha5 |
A |
T |
5: 84,254,559 (GRCm39) |
V519E |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,867,603 (GRCm39) |
D680G |
possibly damaging |
Het |
| Kras |
T |
C |
6: 145,192,474 (GRCm39) |
T20A |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,225,830 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,616,121 (GRCm39) |
|
probably benign |
Het |
| Pde8a |
G |
A |
7: 80,932,762 (GRCm39) |
|
probably null |
Het |
| Rasgef1a |
A |
T |
6: 118,065,164 (GRCm39) |
K384M |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,555,662 (GRCm39) |
Y785N |
probably damaging |
Het |
| Ttll13 |
G |
T |
7: 79,909,297 (GRCm39) |
A661S |
possibly damaging |
Het |
|
| Other mutations in Selenov |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02261:Selenov
|
APN |
7 |
27,990,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1844:Selenov
|
UTSW |
7 |
27,989,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Selenov
|
UTSW |
7 |
27,987,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Selenov
|
UTSW |
7 |
27,987,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4819:Selenov
|
UTSW |
7 |
27,989,746 (GRCm39) |
splice site |
probably null |
|
|
R5237:Selenov
|
UTSW |
7 |
27,987,572 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5898:Selenov
|
UTSW |
7 |
27,987,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6431:Selenov
|
UTSW |
7 |
27,987,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Selenov
|
UTSW |
7 |
27,989,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8047:Selenov
|
UTSW |
7 |
27,990,108 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8464:Selenov
|
UTSW |
7 |
27,987,897 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8917:Selenov
|
UTSW |
7 |
27,987,728 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0022:Selenov
|
UTSW |
7 |
27,990,498 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1088:Selenov
|
UTSW |
7 |
27,990,093 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2012-12-06 |
Incidental Mutation