Incidental Mutation 'R8301:Selenon'
ID 656514
Institutional Source Beutler Lab
Gene Symbol Selenon
Ensembl Gene ENSMUSG00000050989
Gene Name selenoprotein N
Synonyms Sepn1, 1110019I12Rik
MMRRC Submission 067789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8301 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 134537892-134552166 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 134551414 bp (GRCm38)
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

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 87,972,505 (GRCm38) I374F probably benign Het
Ak9 G A 10: 41,424,716 (GRCm38) V1108I Het
Aldh16a1 C T 7: 45,141,982 (GRCm38) A790T possibly damaging Het
Anks1 A T 17: 28,059,580 (GRCm38) probably benign Het
Antxr2 T G 5: 97,977,679 (GRCm38) T240P probably benign Het
Arfgef1 A T 1: 10,179,833 (GRCm38) M945K probably damaging Het
Arhgef17 T C 7: 100,879,659 (GRCm38) T1591A probably benign Het
Aurka A G 2: 172,356,930 (GRCm38) S374P probably damaging Het
Bccip T C 7: 133,719,204 (GRCm38) S236P probably benign Het
Cacna1s T A 1: 136,073,441 (GRCm38) probably benign Het
Calm1 A G 12: 100,205,685 (GRCm38) E132G probably benign Het
Casz1 A G 4: 148,946,043 (GRCm38) D1173G probably damaging Het
Cdh17 A G 4: 11,795,659 (GRCm38) D413G probably damaging Het
Cfap57 A G 4: 118,593,074 (GRCm38) I617T possibly damaging Het
Creb5 A G 6: 53,681,033 (GRCm38) D116G possibly damaging Het
Csnka2ip A C 16: 64,478,991 (GRCm38) S337A unknown Het
Ddx60 A G 8: 62,000,597 (GRCm38) E1250G probably benign Het
Dlgap2 T A 8: 14,823,577 (GRCm38) S727T probably benign Het
Dpy19l1 T C 9: 24,485,111 (GRCm38) probably benign Het
Ebf2 A G 14: 67,238,982 (GRCm38) T134A possibly damaging Het
Echdc2 A T 4: 108,172,909 (GRCm38) M136L probably benign Het
Enpp2 A G 15: 54,851,407 (GRCm38) F598S probably benign Het
Extl3 A C 14: 65,076,284 (GRCm38) L483R probably damaging Het
Gcat T C 15: 79,035,889 (GRCm38) V227A possibly damaging Het
Hsf2 A G 10: 57,505,346 (GRCm38) D344G probably damaging Het
Ighm C T 12: 113,421,545 (GRCm38) G265D Het
Igsf9b T G 9: 27,334,739 (GRCm38) probably benign Het
Ints6 A G 14: 62,702,453 (GRCm38) V596A probably benign Het
Ints8 T C 4: 11,246,120 (GRCm38) E182G probably damaging Het
Iqgap2 A G 13: 95,682,151 (GRCm38) probably null Het
Kalrn G T 16: 34,357,100 (GRCm38) Q250K probably benign Het
Lrrc1 T A 9: 77,544,488 (GRCm38) N46Y probably damaging Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Naa50 A G 16: 44,157,131 (GRCm38) N74S probably benign Het
Neb T C 2: 52,288,835 (GRCm38) N1303S probably benign Het
Nfs1 A T 2: 156,134,493 (GRCm38) C160* probably null Het
Olfr472 A G 7: 107,903,626 (GRCm38) K303R probably benign Het
Olfr591 T G 7: 103,173,073 (GRCm38) K188T probably damaging Het
Olfr740 T A 14: 50,453,564 (GRCm38) S171T probably benign Het
Olfr809 T C 10: 129,776,840 (GRCm38) S309P probably benign Het
Orm2 T C 4: 63,363,026 (GRCm38) F67S possibly damaging Het
Pex5 A G 6: 124,405,183 (GRCm38) S180P probably benign Het
Phf14 G C 6: 11,992,062 (GRCm38) G746R probably damaging Het
Pkm T A 9: 59,668,631 (GRCm38) V110E probably damaging Het
Plekha6 T G 1: 133,264,687 (GRCm38) N78K probably damaging Het
Plxna2 G A 1: 194,790,175 (GRCm38) V1076I probably benign Het
Polq C A 16: 37,061,819 (GRCm38) D1448E probably damaging Het
Pot1b T C 17: 55,687,895 (GRCm38) T256A probably benign Het
Prkch C T 12: 73,702,764 (GRCm38) T377I possibly damaging Het
Prl3c1 A C 13: 27,199,185 (GRCm38) probably benign Het
Prl7b1 A C 13: 27,602,772 (GRCm38) V158G possibly damaging Het
Prss22 T C 17: 23,993,981 (GRCm38) S261G probably damaging Het
Psd T C 19: 46,321,102 (GRCm38) probably benign Het
Psg18 A T 7: 18,353,377 (GRCm38) Y119N probably damaging Het
Rbm6 T G 9: 107,852,794 (GRCm38) R218S probably damaging Het
Rnf213 T A 11: 119,434,742 (GRCm38) S1491T Het
Rsf1 T C 7: 97,661,925 (GRCm38) S621P Het
Runx1 C A 16: 92,605,656 (GRCm38) *466L probably null Het
Samd4 A G 14: 47,016,678 (GRCm38) I200V probably benign Het
Sdsl C T 5: 120,459,519 (GRCm38) C241Y probably benign Het
Setx C T 2: 29,145,690 (GRCm38) P729L possibly damaging Het
Sf1 C T 19: 6,368,366 (GRCm38) Q55* probably null Het
Slc12a5 A T 2: 164,993,691 (GRCm38) N833I probably damaging Het
Slc1a4 T C 11: 20,332,286 (GRCm38) R63G probably damaging Het
Tmeff2 G T 1: 51,181,837 (GRCm38) A324S probably benign Het
Tmem217 A G 17: 29,526,492 (GRCm38) I88T possibly damaging Het
Tnfsf8 A T 4: 63,860,878 (GRCm38) I61N probably benign Het
Tpbgl G T 7: 99,625,567 (GRCm38) A361E probably damaging Het
Trhde T A 10: 114,487,006 (GRCm38) E667V probably benign Het
Unc13b A G 4: 43,263,568 (GRCm38) T1598A probably benign Het
Vmn2r73 A T 7: 85,858,302 (GRCm38) C601S probably benign Het
Zfp873 C A 10: 82,060,879 (GRCm38) H481Q probably damaging Het
Other mutations in Selenon
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Selenon APN 4 134,539,726 (GRCm38) unclassified probably benign
IGL02832:Selenon APN 4 134,540,908 (GRCm38) missense probably damaging 1.00
IGL03015:Selenon APN 4 134,545,518 (GRCm38) missense probably benign 0.43
G1Funyon:Selenon UTSW 4 134,551,414 (GRCm38) splice site probably benign
I0000:Selenon UTSW 4 134,542,701 (GRCm38) splice site probably benign
R1400:Selenon UTSW 4 134,551,518 (GRCm38) missense probably benign 0.00
R1436:Selenon UTSW 4 134,540,686 (GRCm38) missense probably damaging 1.00
R1932:Selenon UTSW 4 134,544,618 (GRCm38) missense probably damaging 0.99
R2886:Selenon UTSW 4 134,543,069 (GRCm38) missense probably null 1.00
R3884:Selenon UTSW 4 134,539,770 (GRCm38) missense possibly damaging 0.80
R4647:Selenon UTSW 4 134,545,657 (GRCm38) missense probably damaging 1.00
R4721:Selenon UTSW 4 134,543,076 (GRCm38) nonsense probably null
R5091:Selenon UTSW 4 134,547,973 (GRCm38) missense probably damaging 1.00
R5412:Selenon UTSW 4 134,542,438 (GRCm38) missense probably benign 0.00
R5553:Selenon UTSW 4 134,540,917 (GRCm38) missense probably damaging 1.00
R7048:Selenon UTSW 4 134,542,843 (GRCm38) missense probably benign 0.04
R7222:Selenon UTSW 4 134,547,977 (GRCm38) missense possibly damaging 0.60
R7470:Selenon UTSW 4 134,539,750 (GRCm38) missense probably benign 0.29
R8452:Selenon UTSW 4 134,548,087 (GRCm38) splice site probably null
R8753:Selenon UTSW 4 134,548,019 (GRCm38) missense probably benign 0.21
R8921:Selenon UTSW 4 134,540,842 (GRCm38) missense possibly damaging 0.92
R9570:Selenon UTSW 4 134,542,744 (GRCm38) missense probably benign 0.01
R9785:Selenon UTSW 4 134,543,063 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-12-09