Incidental Mutation 'IGL00551:Selenos'
List |< first << previous [record 22 of 25] next >> last >|
ID5230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selenos
Ensembl Gene ENSMUSG00000075701
Gene Nameselenoprotein S
SynonymsC78786, H4, H-47, H-4, H47, Vimp, 1500011E07Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00551
Quality Score
Status
Chromosome7
Chromosomal Location66079649-66089405 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66087194 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 137 (E137G)
Ref Sequence ENSEMBL: ENSMUSP00000145846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101801] [ENSMUST00000205279] [ENSMUST00000206044] [ENSMUST00000206575]
Predicted Effect probably benign
Transcript: ENSMUST00000101801
AA Change: E137G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099301
Gene: ENSMUSG00000075701
AA Change: E137G

DomainStartEndE-ValueType
Pfam:Selenoprotein_S 1 188 1.8e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205965
Predicted Effect probably benign
Transcript: ENSMUST00000206044
AA Change: E49G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000206575
AA Change: E137G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein that is localized in the endoplasmic reticulum (ER). It is involved in the degradation process of misfolded proteins in the ER, and may also have a role in inflammation control. 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. Two additional phylogenetically conserved stem-loop structures (Stem-loop 1 and Stem-loop 2) in the 3' UTR have been shown to function as modulators of Sec insertion in this protein (PMID:23614019). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017]
PHENOTYPE: This locus encodes an antigen recognized by cytotoxic T lymphocytes in thymus, bone marrow, liver and newborn heart. It was originally identified by differences in resistance to transplantable tumors in C57BL/10 and B10.129(21M). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b C T 7: 101,580,569 C41Y probably damaging Het
Btk A G X: 134,573,934 Y42H probably damaging Het
Cacna1e T C 1: 154,403,683 D1720G probably damaging Het
Ccr5 T C 9: 124,124,588 I76T probably damaging Het
Chd3 A G 11: 69,346,629 V1913A probably damaging Het
Dmxl2 A G 9: 54,450,838 Y526H probably damaging Het
Dnah8 A T 17: 30,663,478 K675* probably null Het
Eif2b1 A G 5: 124,576,869 F115L probably damaging Het
Erlin1 T C 19: 44,059,146 D112G probably damaging Het
Fabp12 A G 3: 10,246,055 probably benign Het
Fam47c A G X: 78,738,454 E214G probably damaging Het
Fkbp5 G T 17: 28,401,046 probably benign Het
Hist1h1c C A 13: 23,738,845 probably benign Het
Kidins220 G T 12: 25,038,560 probably benign Het
Limd2 T C 11: 106,159,205 E15G probably benign Het
Mga T A 2: 119,919,814 C696S possibly damaging Het
Naa16 A G 14: 79,355,729 F468L probably damaging Het
Ndufaf1 A G 2: 119,660,469 S37P probably damaging Het
Phrf1 A G 7: 141,258,877 probably benign Het
Prr14 A G 7: 127,474,647 T228A probably benign Het
Rfc1 A T 5: 65,296,009 F265L probably benign Het
Tars T C 15: 11,388,221 probably null Het
Tpcn1 A G 5: 120,560,325 I44T probably benign Het
Usp26 A G X: 51,757,305 V31A probably benign Het
Other mutations in Selenos
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Selenos APN 7 66080389 missense probably damaging 1.00
X0011:Selenos UTSW 7 66079783 missense probably benign 0.00
Posted On2012-04-20