Incidental Mutation 'R5553:Selenon'
ID |
435216 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Selenon
|
Ensembl Gene |
ENSMUSG00000050989 |
Gene Name |
selenoprotein N |
Synonyms |
Sepn1, 1110019I12Rik |
MMRRC Submission |
043110-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5553 (G1)
|
Quality Score |
223 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
134265203-134279477 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 134268228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 435
(R435L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060435]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060435
AA Change: R435L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060026 Gene: ENSMUSG00000050989 AA Change: R435L
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
A |
15: 60,792,690 (GRCm39) |
I86F |
probably damaging |
Het |
Abca13 |
C |
T |
11: 9,278,158 (GRCm39) |
L3113F |
probably damaging |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Ano8 |
T |
A |
8: 71,937,641 (GRCm39) |
|
probably null |
Het |
Arid1b |
A |
T |
17: 5,364,152 (GRCm39) |
S1041C |
probably damaging |
Het |
Bsn |
T |
A |
9: 107,987,620 (GRCm39) |
|
probably benign |
Het |
Cbr3 |
A |
G |
16: 93,480,451 (GRCm39) |
E80G |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 17,605,875 (GRCm39) |
E271G |
probably benign |
Het |
Dock3 |
T |
A |
9: 106,868,309 (GRCm39) |
K658N |
possibly damaging |
Het |
Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
Dppa1 |
T |
A |
11: 46,503,861 (GRCm39) |
|
probably null |
Het |
Fen1 |
T |
C |
19: 10,177,787 (GRCm39) |
N219S |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,793,090 (GRCm39) |
T416A |
probably benign |
Het |
Gm14393 |
A |
T |
2: 174,903,639 (GRCm39) |
C89* |
probably null |
Het |
Grin2c |
C |
T |
11: 115,143,551 (GRCm39) |
M736I |
probably null |
Het |
Heatr5b |
A |
T |
17: 79,060,780 (GRCm39) |
|
probably null |
Het |
Hspbap1 |
G |
T |
16: 35,621,967 (GRCm39) |
W104L |
probably damaging |
Het |
Igfn1 |
C |
T |
1: 135,895,622 (GRCm39) |
G1648E |
probably damaging |
Het |
Irf4 |
A |
G |
13: 30,935,811 (GRCm39) |
Y122C |
probably damaging |
Het |
Kremen2 |
A |
G |
17: 23,960,776 (GRCm39) |
|
probably benign |
Het |
Niban1 |
C |
T |
1: 151,592,986 (GRCm39) |
T557M |
probably damaging |
Het |
Nubpl |
T |
A |
12: 52,228,082 (GRCm39) |
L169M |
possibly damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,604 (GRCm39) |
S1200P |
possibly damaging |
Het |
Or1j20 |
A |
G |
2: 36,760,477 (GRCm39) |
I300V |
probably benign |
Het |
Or5p61 |
A |
T |
7: 107,758,478 (GRCm39) |
S201T |
probably benign |
Het |
Parp14 |
G |
T |
16: 35,677,306 (GRCm39) |
H887Q |
probably benign |
Het |
Paxip1 |
G |
A |
5: 27,980,637 (GRCm39) |
|
probably benign |
Het |
Piwil1 |
T |
C |
5: 128,822,565 (GRCm39) |
M392T |
probably benign |
Het |
Plekhm3 |
T |
C |
1: 64,961,045 (GRCm39) |
S404G |
possibly damaging |
Het |
Prelid3a |
T |
C |
18: 67,610,093 (GRCm39) |
L141P |
probably damaging |
Het |
Ptprb |
T |
A |
10: 116,186,090 (GRCm39) |
V1715E |
probably damaging |
Het |
Rc3h2 |
G |
A |
2: 37,288,323 (GRCm39) |
R420* |
probably null |
Het |
Slc29a4 |
T |
C |
5: 142,705,791 (GRCm39) |
L425P |
probably damaging |
Het |
Slc30a9 |
T |
A |
5: 67,502,947 (GRCm39) |
|
probably null |
Het |
Slc9a5 |
T |
C |
8: 106,083,672 (GRCm39) |
V404A |
probably damaging |
Het |
Ssc5d |
A |
T |
7: 4,939,289 (GRCm39) |
D575V |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,721,940 (GRCm39) |
|
probably null |
Het |
Vmn2r100 |
A |
G |
17: 19,725,110 (GRCm39) |
Q13R |
possibly damaging |
Het |
Wfikkn1 |
T |
A |
17: 26,097,468 (GRCm39) |
L285F |
possibly damaging |
Het |
Zcchc17 |
A |
G |
4: 130,247,927 (GRCm39) |
|
probably null |
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 |
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 |
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'- GATACTTCCTGGTATCTGGGCC -3'
(R):5'- TGTCCATGCTGATCCTACAAC -3'
Sequencing Primer
(F):5'- TATCTGGGCCCAGTGCTGTC -3'
(R):5'- AGCCTCCTGAGTGCTAGGATAC -3'
|
Posted On |
2016-10-24 |