Incidental Mutation 'R3884:Selenon'
| ID |
310580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selenon
|
| Ensembl Gene |
ENSMUSG00000050989 |
| Gene Name |
selenoprotein N |
| Synonyms |
Sepn1, 1110019I12Rik |
| MMRRC Submission |
040797-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3884 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
134265203-134279477 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134267081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 507
(N507S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060435]
[ENSMUST00000102550]
[ENSMUST00000116279]
[ENSMUST00000131613]
[ENSMUST00000154769]
[ENSMUST00000146808]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060435
AA Change: N507S
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060026
Gene: ENSMUSG00000050989
AA Change: N507S
| 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: ENSMUST00000154769
|
| SMART Domains |
Protein: ENSMUSP00000117943
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
5 |
237 |
1.5e-84 |
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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
G |
A |
15: 98,495,055 (GRCm39) |
S719F |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,224,727 (GRCm39) |
V998A |
probably damaging |
Het |
| Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,224,824 (GRCm39) |
E820G |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,910,677 (GRCm39) |
D71V |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
| Cnot7 |
A |
T |
8: 40,963,171 (GRCm39) |
M1K |
probably null |
Het |
| Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
| Depdc5 |
G |
A |
5: 33,101,421 (GRCm39) |
E904K |
probably damaging |
Het |
| Dip2c |
G |
T |
13: 9,601,894 (GRCm39) |
L284F |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
| Gabra4 |
T |
C |
5: 71,814,600 (GRCm39) |
D40G |
probably benign |
Het |
| Gm9925 |
T |
C |
18: 74,198,399 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
T |
A |
17: 12,928,355 (GRCm39) |
Q996L |
probably benign |
Het |
| Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
| Lin9 |
G |
T |
1: 180,515,630 (GRCm39) |
G427* |
probably null |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Lyg2 |
C |
G |
1: 37,949,150 (GRCm39) |
A71P |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
| Myl3 |
A |
G |
9: 110,597,027 (GRCm39) |
H129R |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,580,702 (GRCm39) |
K604R |
probably damaging |
Het |
| Nedd4 |
C |
T |
9: 72,632,359 (GRCm39) |
P398S |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,241,885 (GRCm39) |
V309A |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,110 (GRCm39) |
Q25L |
possibly damaging |
Het |
| Or6c210 |
T |
C |
10: 129,496,407 (GRCm39) |
V244A |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,205,787 (GRCm39) |
Y301C |
probably damaging |
Het |
| Parl |
A |
T |
16: 20,101,762 (GRCm39) |
M90K |
probably damaging |
Het |
| Plxnc1 |
A |
T |
10: 94,746,549 (GRCm39) |
|
probably null |
Het |
| Prkd2 |
C |
A |
7: 16,587,180 (GRCm39) |
S375R |
probably benign |
Het |
| Prss44 |
T |
C |
9: 110,643,764 (GRCm39) |
I136T |
possibly damaging |
Het |
| Rock1 |
G |
A |
18: 10,122,768 (GRCm39) |
T351I |
probably damaging |
Het |
| Slc38a7 |
C |
T |
8: 96,572,809 (GRCm39) |
G141R |
probably damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,560,705 (GRCm39) |
N27486I |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,209,753 (GRCm39) |
M346T |
probably damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,191,886 (GRCm39) |
F306L |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACCAGGTCCAGGTCCTC -3'
(R):5'- GCTCTGGTGAGAAAATTCTTGG -3'
Sequencing Primer
(F):5'- TCCTCTAGGACTAGGGCTGGAG -3'
(R):5'- TACTGGTTCCTACCCTGGGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation