Incidental Mutation 'IGL03015:Selenon'
| ID |
407904 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Selenon
|
| Ensembl Gene |
ENSMUSG00000050989 |
| Gene Name |
selenoprotein N |
| Synonyms |
Sepn1, 1110019I12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
134265203-134279477 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134272829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 203
(N203S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060435]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060435
AA Change: N203S
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060026
Gene: ENSMUSG00000050989
AA Change: N203S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
65 |
N/A |
INTRINSIC |
|
SCOP:d1k94a_
|
76 |
113 |
4e-3 |
SMART |
|
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
555 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127585
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in the orthologous gene in human are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. Knockout mice deleted for this gene exhibit abnormal lung development. This protein is a 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. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit satellite cell loss and impaired muscle regeneration. Mice homozygous for a different knock-out allele exhibit subtle core lesions in skeletal muscle after induced oxidative stress and abnormal lung development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
G |
14: 29,708,273 (GRCm39) |
W184G |
possibly damaging |
Het |
| Asb4 |
T |
C |
6: 5,398,515 (GRCm39) |
V160A |
possibly damaging |
Het |
| Cct8 |
C |
A |
16: 87,283,553 (GRCm39) |
|
probably benign |
Het |
| Daw1 |
T |
A |
1: 83,161,103 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,277,435 (GRCm39) |
I325V |
probably benign |
Het |
| Lipk |
A |
G |
19: 33,996,108 (GRCm39) |
T7A |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,206,504 (GRCm39) |
V55A |
probably damaging |
Het |
| Malrd1 |
A |
C |
2: 16,047,082 (GRCm39) |
D1736A |
unknown |
Het |
| Nav3 |
T |
A |
10: 109,554,158 (GRCm39) |
I1735F |
probably damaging |
Het |
| Nmbr |
T |
A |
10: 14,636,412 (GRCm39) |
V127E |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 97,979,965 (GRCm39) |
T160A |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,169,996 (GRCm39) |
M819V |
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,055,914 (GRCm39) |
S759P |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,741,165 (GRCm39) |
E318G |
possibly damaging |
Het |
| Syt13 |
A |
G |
2: 92,781,725 (GRCm39) |
I309V |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,169,147 (GRCm39) |
T1096I |
probably benign |
Het |
| Vwf |
T |
G |
6: 125,661,101 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Selenon |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Selenon
|
APN |
4 |
134,267,037 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02832:Selenon
|
APN |
4 |
134,268,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Selenon
|
UTSW |
4 |
134,278,725 (GRCm39) |
splice site |
probably benign |
|
|
I0000:Selenon
|
UTSW |
4 |
134,270,012 (GRCm39) |
splice site |
probably benign |
|
|
R1400:Selenon
|
UTSW |
4 |
134,278,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1436:Selenon
|
UTSW |
4 |
134,267,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Selenon
|
UTSW |
4 |
134,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2886:Selenon
|
UTSW |
4 |
134,270,380 (GRCm39) |
missense |
probably null |
1.00 |
|
R3884:Selenon
|
UTSW |
4 |
134,267,081 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4647:Selenon
|
UTSW |
4 |
134,272,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Selenon
|
UTSW |
4 |
134,270,387 (GRCm39) |
nonsense |
probably null |
|
|
R5091:Selenon
|
UTSW |
4 |
134,275,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5412:Selenon
|
UTSW |
4 |
134,269,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5553:Selenon
|
UTSW |
4 |
134,268,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Selenon
|
UTSW |
4 |
134,270,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7222:Selenon
|
UTSW |
4 |
134,275,288 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7470:Selenon
|
UTSW |
4 |
134,267,061 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8301:Selenon
|
UTSW |
4 |
134,278,725 (GRCm39) |
splice site |
probably benign |
|
|
R8452:Selenon
|
UTSW |
4 |
134,275,398 (GRCm39) |
splice site |
probably null |
|
|
R8753:Selenon
|
UTSW |
4 |
134,275,330 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8921:Selenon
|
UTSW |
4 |
134,268,153 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9570:Selenon
|
UTSW |
4 |
134,270,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9785:Selenon
|
UTSW |
4 |
134,270,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation