Incidental Mutation 'IGL03015:Selenon'
ID407904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selenon
Ensembl Gene ENSMUSG00000050989
Gene Nameselenoprotein N
SynonymsSepn1, 1110019I12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03015
Quality Score
Status
Chromosome4
Chromosomal Location134537892-134552166 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134545518 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 203 (N203S)
Ref Sequence ENSEMBL: ENSMUSP00000060026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060435]
Predicted Effect probably benign
Transcript: ENSMUST00000060435
AA Change: N203S

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000060026
Gene: ENSMUSG00000050989
AA Change: N203S

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
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T G 14: 29,986,316 W184G possibly damaging Het
Asb4 T C 6: 5,398,515 V160A possibly damaging Het
Cct8 C A 16: 87,486,665 probably benign Het
Daw1 T A 1: 83,183,382 probably benign Het
Itpr2 T C 6: 146,375,937 I325V probably benign Het
Lipk A G 19: 34,018,708 T7A probably benign Het
Ly75 A G 2: 60,376,160 V55A probably damaging Het
Malrd1 A C 2: 16,042,271 D1736A unknown Het
Nav3 T A 10: 109,718,297 I1735F probably damaging Het
Nmbr T A 10: 14,760,668 V127E probably damaging Het
Notch2 A G 3: 98,072,649 T160A possibly damaging Het
Prrt4 T C 6: 29,169,997 M819V probably benign Het
Psmd1 T C 1: 86,128,192 S759P probably damaging Het
Rnf13 A G 3: 57,833,744 E318G possibly damaging Het
Syt13 A G 2: 92,951,380 I309V possibly damaging Het
Ush2a C T 1: 188,436,950 T1096I probably benign Het
Vwf T G 6: 125,684,138 probably benign Het
Other mutations in Selenon
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Selenon APN 4 134539726 unclassified probably benign
IGL02832:Selenon APN 4 134540908 missense probably damaging 1.00
I0000:Selenon UTSW 4 134542701 splice site probably benign
R1400:Selenon UTSW 4 134551518 missense probably benign 0.00
R1436:Selenon UTSW 4 134540686 missense probably damaging 1.00
R1932:Selenon UTSW 4 134544618 missense probably damaging 0.99
R2886:Selenon UTSW 4 134543069 missense probably null 1.00
R3884:Selenon UTSW 4 134539770 missense possibly damaging 0.80
R4647:Selenon UTSW 4 134545657 missense probably damaging 1.00
R4721:Selenon UTSW 4 134543076 nonsense probably null
R5091:Selenon UTSW 4 134547973 missense probably damaging 1.00
R5412:Selenon UTSW 4 134542438 missense probably benign 0.00
R5553:Selenon UTSW 4 134540917 missense probably damaging 1.00
R7048:Selenon UTSW 4 134542843 missense probably benign 0.04
R7222:Selenon UTSW 4 134547977 missense possibly damaging 0.60
R7470:Selenon UTSW 4 134539750 missense probably benign 0.29
Posted On2016-08-02