Incidental Mutation 'R7470:Selenon'
ID 579104
Institutional Source Beutler Lab
Gene Symbol Selenon
Ensembl Gene ENSMUSG00000050989
Gene Name selenoprotein N
Synonyms Sepn1, 1110019I12Rik
MMRRC Submission 045544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7470 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 134265203-134279477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 134267061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 514 (S514A)
Ref Sequence ENSEMBL: ENSMUSP00000060026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060435] [ENSMUST00000102550] [ENSMUST00000116279] [ENSMUST00000131613] [ENSMUST00000146808] [ENSMUST00000154769]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000060435
AA Change: S514A

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000060026
Gene: ENSMUSG00000050989
AA Change: S514A

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 probably benign
Transcript: ENSMUST00000102550
SMART Domains Protein: ENSMUSP00000099609
Gene: ENSMUSG00000046671

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 7 251 4.9e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116279
SMART Domains Protein: ENSMUSP00000111983
Gene: ENSMUSG00000046671

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 7 251 4.9e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131613
SMART Domains Protein: ENSMUSP00000123326
Gene: ENSMUSG00000046671

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 5 201 2.3e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146808
SMART Domains Protein: ENSMUSP00000120200
Gene: ENSMUSG00000046671

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 5 225 1.5e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154769
SMART Domains Protein: ENSMUSP00000117943
Gene: ENSMUSG00000046671

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 5 237 1.5e-84 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,898,622 (GRCm39) V238E possibly damaging Het
Actn3 G A 19: 4,917,842 (GRCm39) S375L possibly damaging Het
Adgrg6 T C 10: 14,319,810 (GRCm39) T476A probably benign Het
Afm T A 5: 90,679,486 (GRCm39) S327T probably damaging Het
Apol7e T A 15: 77,602,143 (GRCm39) M247K probably benign Het
Aqp12 T A 1: 92,936,385 (GRCm39) L237Q probably damaging Het
Arhgef12 A T 9: 42,951,848 (GRCm39) S63T probably damaging Het
Axdnd1 T A 1: 156,204,086 (GRCm39) E393V Het
Cacna1g T A 11: 94,352,765 (GRCm39) D365V possibly damaging Het
Ccdc3 T A 2: 5,143,115 (GRCm39) V124E possibly damaging Het
Ccr7 C T 11: 99,036,383 (GRCm39) V180M possibly damaging Het
Cd47 T A 16: 49,704,585 (GRCm39) I119K Het
Cenpe A T 3: 134,947,916 (GRCm39) L1158F probably damaging Het
Cfi A G 3: 129,648,736 (GRCm39) R207G probably benign Het
Cyp2j6 T C 4: 96,423,708 (GRCm39) Y220C probably benign Het
Ddhd2 A G 8: 26,225,087 (GRCm39) F577L probably benign Het
Dhx40 T C 11: 86,667,528 (GRCm39) E537G probably damaging Het
Disp3 A T 4: 148,345,527 (GRCm39) C438S possibly damaging Het
Dock3 A G 9: 106,882,644 (GRCm39) S380P probably damaging Het
Ehmt2 A G 17: 35,118,372 (GRCm39) E106G possibly damaging Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Gm11554 A C 11: 99,695,190 (GRCm39) S8A unknown Het
Grm7 A G 6: 111,478,476 (GRCm39) I54V Het
Hbs1l T C 10: 21,234,683 (GRCm39) F579L possibly damaging Het
Hgf C A 5: 16,823,854 (GRCm39) Q684K probably benign Het
Igsf3 T C 3: 101,358,391 (GRCm39) Y741H possibly damaging Het
Il17rb C A 14: 29,719,990 (GRCm39) G304W probably damaging Het
Ino80c C T 18: 24,241,895 (GRCm39) W163* probably null Het
Kcnt1 A C 2: 25,799,845 (GRCm39) D997A probably damaging Het
Klf7 C T 1: 64,081,472 (GRCm39) probably null Het
Lingo1 T C 9: 56,527,908 (GRCm39) Y233C probably damaging Het
Lmo7 C A 14: 102,138,040 (GRCm39) T914K possibly damaging Het
Mark1 G T 1: 184,660,241 (GRCm39) Y138* probably null Het
Mcm3ap C A 10: 76,344,231 (GRCm39) T1791K probably damaging Het
Mcts2 T C 2: 152,529,582 (GRCm39) I131T probably benign Het
Mipep A G 14: 61,040,344 (GRCm39) D288G probably benign Het
Ms4a8a T A 19: 11,053,714 (GRCm39) N131Y possibly damaging Het
Nalcn T C 14: 123,809,456 (GRCm39) E232G probably benign Het
Nat10 C T 2: 103,565,226 (GRCm39) A452T probably benign Het
Nfatc2 G A 2: 168,365,227 (GRCm39) Q596* probably null Het
Nudt13 G T 14: 20,359,791 (GRCm39) G173W probably damaging Het
Or10n1 C A 9: 39,524,998 (GRCm39) T45K probably benign Het
Or1e16 T A 11: 73,286,714 (GRCm39) I45F probably damaging Het
Or5l14 A T 2: 87,792,793 (GRCm39) C148S possibly damaging Het
Or8b4 T A 9: 37,830,592 (GRCm39) I213N probably damaging Het
Otud4 T C 8: 80,399,989 (GRCm39) V901A probably benign Het
Pah G A 10: 87,399,286 (GRCm39) R155Q probably damaging Het
Pkd1l3 A G 8: 110,365,008 (GRCm39) H1130R probably benign Het
Pnliprp1 A G 19: 58,720,457 (GRCm39) N111S possibly damaging Het
Ppp1r21 T C 17: 88,869,649 (GRCm39) Y401H probably damaging Het
Prr14 A G 7: 127,074,997 (GRCm39) K466R probably null Het
Ralgapa2 A G 2: 146,266,587 (GRCm39) L663P probably damaging Het
Reg3d A T 6: 78,353,071 (GRCm39) C171S possibly damaging Het
Reln G T 5: 22,147,739 (GRCm39) L2404I probably damaging Het
Rnasel A C 1: 153,629,777 (GRCm39) I98L probably benign Het
Rnf216 T C 5: 142,978,480 (GRCm39) D886G possibly damaging Het
Rp1l1 A G 14: 64,266,015 (GRCm39) R534G probably benign Het
Sema3d T A 5: 12,558,152 (GRCm39) I228N probably damaging Het
Serpinb9g T A 13: 33,670,617 (GRCm39) I35N probably damaging Het
Siglec1 A C 2: 130,917,744 (GRCm39) H1044Q probably benign Het
Skint5 T A 4: 113,614,128 (GRCm39) I693F unknown Het
Skint5 G T 4: 113,743,000 (GRCm39) L370M unknown Het
Slc12a1 G A 2: 125,059,815 (GRCm39) W905* probably null Het
Slc26a9 G C 1: 131,691,781 (GRCm39) V675L probably benign Het
Slc5a7 A T 17: 54,583,990 (GRCm39) Y433* probably null Het
Slc7a4 A G 16: 17,392,977 (GRCm39) I274T probably benign Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Spen T C 4: 141,206,605 (GRCm39) D674G unknown Het
Ssh1 T C 5: 114,080,488 (GRCm39) T981A possibly damaging Het
Sycp2l T C 13: 41,316,580 (GRCm39) S180P probably benign Het
Tdrd7 C A 4: 45,990,144 (GRCm39) S181R probably benign Het
Thada T C 17: 84,533,469 (GRCm39) N1661D probably benign Het
Tsga13 C A 6: 30,876,981 (GRCm39) D179Y possibly damaging Het
Ttf2 T G 3: 100,870,478 (GRCm39) Q198H possibly damaging Het
Ugt2b37 T G 5: 87,401,971 (GRCm39) Y220S probably benign Het
Unc79 C T 12: 103,061,235 (GRCm39) T1145I probably damaging Het
Unc80 T A 1: 66,661,621 (GRCm39) M1682K probably benign Het
Vcp A G 4: 42,982,891 (GRCm39) S652P probably damaging Het
Vmn2r-ps158 T A 7: 42,697,310 (GRCm39) M789K probably damaging Het
Wrnip1 T A 13: 33,000,310 (GRCm39) L439* probably null Het
Zfhx2 A G 14: 55,304,207 (GRCm39) I1259T possibly damaging Het
Zfp369 A T 13: 65,439,960 (GRCm39) T215S probably benign Het
Zfp64 A T 2: 168,767,731 (GRCm39) V627E probably damaging Het
Zfp873 T C 10: 81,895,773 (GRCm39) I168T probably benign Het
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
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
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'- ACTTCCAGTTTGAAACAGACTCCG -3'
(R):5'- ATGGAATGACCTAACCTGGGC -3'

Sequencing Primer
(F):5'- GTTTGAAACAGACTCCGGGCAC -3'
(R):5'- TGGGCATCTCTAGGCAGTACATC -3'
Posted On 2019-10-07