Incidental Mutation 'IGL02255:Selenof'
ID 286555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selenof
Ensembl Gene ENSMUSG00000037072
Gene Name selenoprotein F
Synonyms Sep15
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02255
Quality Score
Status
Chromosome 3
Chromosomal Location 144276188-144303438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144302588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 121 (V121A)
Ref Sequence ENSEMBL: ENSMUSP00000046910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082437] [ENSMUST00000106211] [ENSMUST00000151086]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000082437
AA Change: V121A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046910
Gene: ENSMUSG00000037072
AA Change: V121A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
Pfam:Sep15_SelM 85 160 2.1e-32 PFAM
Predicted Effect silent
Transcript: ENSMUST00000106211
SMART Domains Protein: ENSMUSP00000101817
Gene: ENSMUSG00000037072

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144859
Predicted Effect probably benign
Transcript: ENSMUST00000151086
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the SEP15/selenoprotein M family. The exact function of this protein is not known; however, it has been found to associate with UDP-glucose:glycoprotein glucosyltransferase (UGTR), an endoplasmic reticulum(ER)-resident protein, which is involved in the quality control of protein folding. The association with UGTR retains this protein in the ER, where it may play a role in protein folding. Knockout studies in mice also suggest a role for this gene in cataract formation and colon carcinogenesis. 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. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit mild oxidative stress in the liver and develop cataracts by 1.5 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 C T 12: 84,088,799 (GRCm39) L216F probably damaging Het
Acp7 C T 7: 28,314,148 (GRCm39) C349Y probably damaging Het
Cdc42ep5 G A 7: 4,154,399 (GRCm39) Q130* probably null Het
Cip2a T A 16: 48,831,176 (GRCm39) D541E probably damaging Het
Dmxl2 A G 9: 54,301,052 (GRCm39) I2353T probably benign Het
Dnmt3a T A 12: 3,922,886 (GRCm39) probably benign Het
Dtx3l A G 16: 35,753,706 (GRCm39) V300A probably benign Het
Fbxo15 G T 18: 84,982,321 (GRCm39) probably null Het
Fbxw22 C A 9: 109,215,619 (GRCm39) probably benign Het
Gli2 A T 1: 118,772,079 (GRCm39) probably null Het
Gli3 T A 13: 15,823,304 (GRCm39) I342N probably damaging Het
Gm5431 T A 11: 48,779,785 (GRCm39) N657I possibly damaging Het
Mybpc1 A T 10: 88,372,290 (GRCm39) I766N probably damaging Het
Or5b119 T A 19: 13,457,349 (GRCm39) Y71F probably damaging Het
Pkhd1 A T 1: 20,654,325 (GRCm39) I244N probably damaging Het
Ret G T 6: 118,152,081 (GRCm39) probably null Het
Rrp12 A T 19: 41,861,410 (GRCm39) F966I probably damaging Het
Rubcn T C 16: 32,647,715 (GRCm39) I681V probably benign Het
Srl A T 16: 4,305,422 (GRCm39) V541D probably damaging Het
Thbs2 T C 17: 14,910,047 (GRCm39) E184G probably benign Het
Vmn2r81 G A 10: 79,083,806 (GRCm39) W60* probably null Het
Zfp526 A G 7: 24,924,958 (GRCm39) M406V possibly damaging Het
Other mutations in Selenof
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Selenof APN 3 144,302,669 (GRCm39) missense probably damaging 1.00
R0415:Selenof UTSW 3 144,283,453 (GRCm39) missense probably damaging 1.00
R1540:Selenof UTSW 3 144,300,685 (GRCm39) nonsense probably null
R1616:Selenof UTSW 3 144,302,642 (GRCm39) makesense probably null
R4633:Selenof UTSW 3 144,302,622 (GRCm39) nonsense probably null
R4791:Selenof UTSW 3 144,302,584 (GRCm39) missense probably damaging 1.00
R4831:Selenof UTSW 3 144,296,411 (GRCm39) missense probably damaging 0.98
R9632:Selenof UTSW 3 144,283,370 (GRCm39) missense probably benign 0.01
R9710:Selenof UTSW 3 144,283,370 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16