Incidental Mutation 'IGL00946:Selenon'
| ID |
27283 |
| 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 # |
IGL00946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
134265203-134279477 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 134267037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060435]
[ENSMUST00000102550]
[ENSMUST00000116279]
[ENSMUST00000131613]
[ENSMUST00000146808]
[ENSMUST00000154769]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000060435
AA Change: N522Y
|
| SMART Domains |
Protein: ENSMUSP00000060026
Gene: ENSMUSG00000050989
AA Change: N522Y
| 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 |
probably benign
Transcript: ENSMUST00000102550
|
| SMART Domains |
Protein: ENSMUSP00000099609
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
7 |
251 |
4.9e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116279
|
| SMART Domains |
Protein: ENSMUSP00000111983
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
7 |
251 |
4.9e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127585
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131613
|
| SMART Domains |
Protein: ENSMUSP00000123326
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
5 |
201 |
2.3e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146808
|
| SMART Domains |
Protein: ENSMUSP00000120200
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
5 |
225 |
1.5e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154769
|
| SMART Domains |
Protein: ENSMUSP00000117943
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
5 |
237 |
1.5e-84 |
PFAM |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,790,373 (GRCm39) |
I538T |
probably benign |
Het |
| Bmp10 |
A |
T |
6: 87,411,344 (GRCm39) |
Q379L |
probably damaging |
Het |
| Cacna2d4 |
G |
A |
6: 119,248,876 (GRCm39) |
A446T |
possibly damaging |
Het |
| Chrdl1 |
G |
A |
X: 142,077,164 (GRCm39) |
|
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,168,112 (GRCm39) |
H370R |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,461,434 (GRCm39) |
T698A |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,472,534 (GRCm39) |
T593A |
possibly damaging |
Het |
| Dus1l |
T |
C |
11: 120,684,701 (GRCm39) |
T157A |
probably damaging |
Het |
| Efcab6 |
T |
C |
15: 83,902,897 (GRCm39) |
N151S |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,324,002 (GRCm39) |
H448Q |
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,673,121 (GRCm39) |
D221G |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,139,898 (GRCm39) |
G996S |
probably benign |
Het |
| Fn1 |
G |
A |
1: 71,684,699 (GRCm39) |
|
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,027,924 (GRCm39) |
Y10C |
probably damaging |
Het |
| Ghitm |
C |
T |
14: 36,847,203 (GRCm39) |
M290I |
probably benign |
Het |
| Gpd2 |
T |
C |
2: 57,158,096 (GRCm39) |
|
probably null |
Het |
| Htr2a |
T |
A |
14: 74,943,582 (GRCm39) |
Y387* |
probably null |
Het |
| Lrrc7 |
T |
A |
3: 157,866,993 (GRCm39) |
Q916L |
probably benign |
Het |
| Mfsd9 |
A |
C |
1: 40,812,940 (GRCm39) |
D458E |
probably benign |
Het |
| Nmb |
T |
C |
7: 80,552,208 (GRCm39) |
I123M |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,329,058 (GRCm39) |
|
probably null |
Het |
| Or10j7 |
A |
T |
1: 173,011,190 (GRCm39) |
D270E |
probably benign |
Het |
| Or4d5 |
A |
G |
9: 40,012,450 (GRCm39) |
I112T |
probably benign |
Het |
| Or4k49 |
T |
A |
2: 111,495,489 (GRCm39) |
M306K |
probably benign |
Het |
| Pola1 |
T |
C |
X: 92,524,145 (GRCm39) |
I1165M |
probably benign |
Het |
| Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
| Stk39 |
T |
A |
2: 68,144,908 (GRCm39) |
T389S |
possibly damaging |
Het |
| Tmx3 |
A |
G |
18: 90,558,178 (GRCm39) |
E410G |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,584,177 (GRCm39) |
V2660E |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,175,932 (GRCm39) |
L40P |
possibly damaging |
Het |
| Wdr25 |
C |
T |
12: 108,990,953 (GRCm39) |
S380F |
possibly damaging |
Het |
| Xpo7 |
T |
C |
14: 70,909,098 (GRCm39) |
T808A |
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,726,142 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Selenon |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02832:Selenon
|
APN |
4 |
134,268,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03015:Selenon
|
APN |
4 |
134,272,829 (GRCm39) |
missense |
probably benign |
0.43 |
|
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 |
2013-04-17 |
Incidental Mutation