Incidental Mutation 'R4999:Selenoo'
ID 389768
Institutional Source Beutler Lab
Gene Symbol Selenoo
Ensembl Gene ENSMUSG00000035757
Gene Name selenoprotein O
Synonyms Selo, 1300018J18Rik
MMRRC Submission 042593-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R4999 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 88973287-88984543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88978387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 270 (R270H)
Ref Sequence ENSEMBL: ENSMUSP00000081020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082439] [ENSMUST00000109353] [ENSMUST00000130700]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000082439
AA Change: R270H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081020
Gene: ENSMUSG00000035757
AA Change: R270H

DomainStartEndE-ValueType
low complexity region 24 38 N/A INTRINSIC
Pfam:UPF0061 79 625 8.3e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109353
SMART Domains Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 355 1675 2.8e-94 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000130700
AA Change: V251M
SMART Domains Protein: ENSMUSP00000138382
Gene: ENSMUSG00000035757
AA Change: V251M

DomainStartEndE-ValueType
low complexity region 24 38 N/A INTRINSIC
Pfam:UPF0061 80 241 1.5e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164717
Meta Mutation Damage Score 0.2463 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian 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. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik A G 1: 16,139,022 (GRCm39) probably null Het
Abca4 T A 3: 121,899,019 (GRCm39) V667D probably damaging Het
Aco1 A G 4: 40,176,507 (GRCm39) I224V probably damaging Het
Arel1 C T 12: 84,978,541 (GRCm39) V364M probably damaging Het
Arhgap42 A G 9: 9,009,435 (GRCm39) V484A probably damaging Het
Asap2 T C 12: 21,302,766 (GRCm39) F681L probably benign Het
Atrn C A 2: 130,817,874 (GRCm39) D809E probably damaging Het
Ccdc70 G A 8: 22,463,266 (GRCm39) V19M possibly damaging Het
Ccp110 G T 7: 118,329,235 (GRCm39) E73* probably null Het
Cfap57 A C 4: 118,453,045 (GRCm39) S553A probably benign Het
Cftr A G 6: 18,221,613 (GRCm39) K212E probably benign Het
Chkb A T 15: 89,312,368 (GRCm39) Y216N probably damaging Het
Cntnap2 G T 6: 45,897,768 (GRCm39) D149Y probably damaging Het
Cpd A G 11: 76,737,048 (GRCm39) probably null Het
Creb3l1 C T 2: 91,813,571 (GRCm39) D489N probably benign Het
Crhbp A G 13: 95,578,753 (GRCm39) F123L probably damaging Het
Cryab T C 9: 50,665,909 (GRCm39) V100A possibly damaging Het
Csmd2 T C 4: 128,415,723 (GRCm39) I2684T probably benign Het
Ctbp2 G T 7: 132,616,378 (GRCm39) P186T possibly damaging Het
Ctnna2 T C 6: 76,892,745 (GRCm39) N814S possibly damaging Het
Dntt T C 19: 41,028,295 (GRCm39) V197A probably damaging Het
Fam135a G A 1: 24,059,758 (GRCm39) A1187V possibly damaging Het
Filip1l A T 16: 57,390,778 (GRCm39) Q455H probably benign Het
Grm2 T C 9: 106,531,189 (GRCm39) E100G probably damaging Het
Gtf2ird2 G A 5: 134,246,306 (GRCm39) V855M probably damaging Het
Heatr9 A T 11: 83,409,618 (GRCm39) I118N possibly damaging Het
Htra3 T C 5: 35,828,469 (GRCm39) H137R probably benign Het
Iars1 A G 13: 49,863,137 (GRCm39) S530G probably damaging Het
Klhdc4 T A 8: 122,523,342 (GRCm39) M510L probably benign Het
Lipc T C 9: 70,724,013 (GRCm39) T204A probably benign Het
Lrp1 A G 10: 127,389,648 (GRCm39) V3129A probably damaging Het
Macf1 G A 4: 123,388,702 (GRCm39) T1120I probably benign Het
Maco1 A G 4: 134,555,444 (GRCm39) I343T probably benign Het
Map4 T C 9: 109,867,445 (GRCm39) probably benign Het
Mbtps1 A T 8: 120,260,087 (GRCm39) V420D probably damaging Het
Mta2 G T 19: 8,927,747 (GRCm39) D523Y probably benign Het
Mtcl2 C T 2: 156,864,776 (GRCm39) G1144D probably benign Het
Muc4 A G 16: 32,576,670 (GRCm39) probably benign Het
Mug1 C T 6: 121,855,902 (GRCm39) Q965* probably null Het
Myo1e T A 9: 70,260,594 (GRCm39) I584N probably damaging Het
Nolc1 T C 19: 46,067,359 (GRCm39) V80A probably damaging Het
Nop56 G T 2: 130,117,645 (GRCm39) V91L probably benign Het
Or5b99 A T 19: 12,976,583 (GRCm39) M78L probably benign Het
Or5h23 A T 16: 58,906,765 (GRCm39) L27Q probably damaging Het
Or6f2 T C 7: 139,756,933 (GRCm39) V300A probably damaging Het
Osbpl3 T C 6: 50,313,277 (GRCm39) E107G probably damaging Het
Pde3a T A 6: 141,195,751 (GRCm39) C146S probably benign Het
Pfkm A G 15: 98,026,123 (GRCm39) M573V probably damaging Het
Pkd1l2 C T 8: 117,774,113 (GRCm39) probably null Het
Plekhg3 T C 12: 76,612,021 (GRCm39) I374T possibly damaging Het
Ppig T A 2: 69,571,830 (GRCm39) V183D unknown Het
Prom1 T G 5: 44,194,876 (GRCm39) I290L probably benign Het
Rufy3 T A 5: 88,785,085 (GRCm39) M387K probably damaging Het
Sema3d T A 5: 12,558,054 (GRCm39) probably null Het
Sema6c C T 3: 95,075,674 (GRCm39) T175I probably damaging Het
Serpina3k T C 12: 104,307,305 (GRCm39) I179T probably damaging Het
Sf3b3 T C 8: 111,567,835 (GRCm39) T207A probably benign Het
Slc22a26 C A 19: 7,779,546 (GRCm39) R90L probably damaging Het
Slitrk5 T C 14: 111,917,648 (GRCm39) V424A probably damaging Het
Smarca2 G T 19: 26,698,255 (GRCm39) E89* probably null Het
Stab2 T A 10: 86,773,773 (GRCm39) S853C probably damaging Het
Stk17b A T 1: 53,800,306 (GRCm39) probably null Het
Taar5 T A 10: 23,847,445 (GRCm39) I281N possibly damaging Het
Tars3 A T 7: 65,308,683 (GRCm39) E284D probably damaging Het
Tbx15 C A 3: 99,223,649 (GRCm39) T279K probably damaging Het
Tfr2 G A 5: 137,585,187 (GRCm39) V740I probably benign Het
Tlr12 T C 4: 128,511,473 (GRCm39) E259G probably benign Het
Tmem145 A G 7: 25,008,459 (GRCm39) T302A probably benign Het
Trappc14 T A 5: 138,259,884 (GRCm39) T391S probably damaging Het
Trpa1 G T 1: 14,946,085 (GRCm39) H1015Q probably benign Het
Tspan8 A G 10: 115,653,534 (GRCm39) Y10C possibly damaging Het
Ttll7 A G 3: 146,600,224 (GRCm39) N44S probably damaging Het
Uba7 T C 9: 107,857,038 (GRCm39) probably null Het
Ube2j2 G A 4: 156,030,841 (GRCm39) M1I probably null Het
Ubr5 C A 15: 38,009,912 (GRCm39) A1022S probably benign Het
Usf1 T G 1: 171,243,331 (GRCm39) I36S probably damaging Het
Vmn1r181 A T 7: 23,683,790 (GRCm39) D85V probably damaging Het
Vmn1r3 A T 4: 3,185,009 (GRCm39) Y99* probably null Het
Vmn1r72 T C 7: 11,404,300 (GRCm39) I49M possibly damaging Het
Vmn2r99 A G 17: 19,582,397 (GRCm39) M1V probably null Het
Vsig10 T A 5: 117,482,040 (GRCm39) V410E probably damaging Het
Zc3h7b A G 15: 81,663,334 (GRCm39) Y442C probably damaging Het
Zfyve26 G T 12: 79,327,159 (GRCm39) Y730* probably null Het
Other mutations in Selenoo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Selenoo APN 15 88,979,875 (GRCm39) missense probably damaging 1.00
IGL01922:Selenoo APN 15 88,983,852 (GRCm39) missense probably benign 0.06
IGL02103:Selenoo APN 15 88,984,173 (GRCm39) missense probably damaging 1.00
R0655:Selenoo UTSW 15 88,979,858 (GRCm39) missense probably damaging 1.00
R0960:Selenoo UTSW 15 88,980,957 (GRCm39) missense probably benign 0.08
R1610:Selenoo UTSW 15 88,984,119 (GRCm39) missense probably benign
R2152:Selenoo UTSW 15 88,983,485 (GRCm39) missense probably benign 0.01
R4177:Selenoo UTSW 15 88,983,662 (GRCm39) unclassified probably benign
R4588:Selenoo UTSW 15 88,980,921 (GRCm39) missense probably benign 0.01
R4622:Selenoo UTSW 15 88,979,910 (GRCm39) nonsense probably null
R4731:Selenoo UTSW 15 88,983,531 (GRCm39) missense probably benign 0.00
R4926:Selenoo UTSW 15 88,983,881 (GRCm39) missense probably damaging 0.98
R4934:Selenoo UTSW 15 88,982,970 (GRCm39) missense probably damaging 0.98
R5000:Selenoo UTSW 15 88,978,387 (GRCm39) missense probably damaging 1.00
R5033:Selenoo UTSW 15 88,976,969 (GRCm39) missense probably damaging 1.00
R5120:Selenoo UTSW 15 88,978,508 (GRCm39) missense possibly damaging 0.79
R6034:Selenoo UTSW 15 88,983,546 (GRCm39) missense probably benign 0.00
R6034:Selenoo UTSW 15 88,983,546 (GRCm39) missense probably benign 0.00
R7238:Selenoo UTSW 15 88,973,427 (GRCm39) missense probably benign 0.15
R7287:Selenoo UTSW 15 88,982,903 (GRCm39) missense probably benign 0.01
R7378:Selenoo UTSW 15 88,973,681 (GRCm39) missense probably benign 0.07
R7818:Selenoo UTSW 15 88,981,019 (GRCm39) missense probably damaging 1.00
R8058:Selenoo UTSW 15 88,976,942 (GRCm39) missense possibly damaging 0.95
R9233:Selenoo UTSW 15 88,984,044 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATCTGGCAATGCTCTGGC -3'
(R):5'- TAAGTACTTCCAGGCTGCCC -3'

Sequencing Primer
(F):5'- CTGTGTGCTGCTGTATCTCCATAG -3'
(R):5'- AGGCTGCCCAGTTCTTGAG -3'
Posted On 2016-06-06