Incidental Mutation 'I0000:Selenon'
ID 17685
Institutional Source Beutler Lab
Gene Symbol Selenon
Ensembl Gene ENSMUSG00000050989
Gene Name selenoprotein N
Synonyms Sepn1, 1110019I12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # I0000 (G3) of strain 635
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 134265203-134279477 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 134270012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000060026
Gene: ENSMUSG00000050989

DomainStartEndE-ValueType
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: 90.9%
  • 3x: 86.6%
Validation Efficiency 67% (62/92)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,376,716 (GRCm39) V1933A probably damaging Het
Acsm4 T A 7: 119,310,415 (GRCm39) F467I probably damaging Het
Ankrd55 A T 13: 112,485,259 (GRCm39) probably benign Het
Bfsp1 T C 2: 143,687,888 (GRCm39) Y179C probably damaging Het
Ccdc61 A G 7: 18,637,474 (GRCm39) I51T probably damaging Het
Ccdc81 A G 7: 89,547,259 (GRCm39) L43P probably damaging Het
Ddias A G 7: 92,515,848 (GRCm39) V15A possibly damaging Het
Dpp6 A T 5: 27,603,920 (GRCm39) T62S probably benign Het
Ereg G A 5: 91,237,068 (GRCm39) C129Y probably benign Het
Fras1 G A 5: 96,888,688 (GRCm39) G2745S probably damaging Het
Gzf1 C T 2: 148,528,540 (GRCm39) probably benign Het
Herc2 T A 7: 55,786,477 (GRCm39) probably benign Het
Hsd17b4 A G 18: 50,293,295 (GRCm39) D278G probably benign Homo
Ifitm3 A G 7: 140,590,441 (GRCm39) S40P possibly damaging Het
Klf5 C T 14: 99,540,911 (GRCm39) T307M probably damaging Homo
Lnpep A T 17: 17,799,233 (GRCm39) C141S probably damaging Homo
Mmp19 A T 10: 128,634,329 (GRCm39) D362V probably benign Het
Or4a72 T C 2: 89,405,497 (GRCm39) Y191C probably damaging Het
Pnpla6 G A 8: 3,592,322 (GRCm39) A1222T probably benign Het
Rbm26 C A 14: 105,391,003 (GRCm39) R161L unknown Homo
Septin11 A G 5: 93,313,118 (GRCm39) T322A probably benign Het
Sh3bp4 T A 1: 89,065,518 (GRCm39) D37E probably benign Het
Tango2 G A 16: 18,130,530 (GRCm39) R80W possibly damaging Homo
Tjap1 C T 17: 46,569,955 (GRCm39) C345Y probably damaging Homo
Wdr62 T C 7: 29,944,752 (GRCm39) D455G probably benign Het
Zbtb48 A G 4: 152,104,315 (GRCm39) I671T probably benign Het
Zfp318 T C 17: 46,710,485 (GRCm39) L736P probably damaging Homo
Other mutations in Selenon
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-01-31