Incidental Mutation 'R4797:Selenoi'
ID 369125
Institutional Source Beutler Lab
Gene Symbol Selenoi
Ensembl Gene ENSMUSG00000075703
Gene Name selenoprotein I
Synonyms D5Wsu178e, C79563, 4933402G07Rik, Ept1
MMRRC Submission 042421-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R4797 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 30437579-30477425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30457740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 90 (W90R)
Ref Sequence ENSEMBL: ENSMUSP00000118368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000132404] [ENSMUST00000145167] [ENSMUST00000145858]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000132404
SMART Domains Protein: ENSMUSP00000117343
Gene: ENSMUSG00000075703

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 46 188 1.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138001
Predicted Effect probably damaging
Transcript: ENSMUST00000145167
AA Change: W90R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118368
Gene: ENSMUSG00000075703
AA Change: W90R

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 48 129 1.8e-16 PFAM
low complexity region 151 167 N/A INTRINSIC
low complexity region 323 339 N/A INTRINSIC
low complexity region 346 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145858
AA Change: F53L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151468
Meta Mutation Damage Score 0.9227 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 96% (69/72)
MGI Phenotype FUNCTION: The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,008,945 (GRCm39) T1195A probably benign Het
Apobr G A 7: 126,186,756 (GRCm39) E756K probably benign Het
Arpc3 A G 5: 122,542,215 (GRCm39) E77G possibly damaging Het
Atp2b2 A T 6: 113,766,847 (GRCm39) M464K possibly damaging Het
Atxn7l2 A G 3: 108,111,866 (GRCm39) S379P probably damaging Het
Ccdc91 A T 6: 147,493,641 (GRCm39) E344D unknown Het
Cdc42bpg G A 19: 6,370,477 (GRCm39) R1190Q probably damaging Het
Cdh17 C A 4: 11,810,390 (GRCm39) Q694K probably benign Het
Chordc1 G T 9: 18,203,672 (GRCm39) probably benign Het
Copg1 A G 6: 87,880,450 (GRCm39) probably benign Het
Dcbld1 T C 10: 52,160,223 (GRCm39) V37A probably damaging Het
Ddb2 A G 2: 91,067,163 (GRCm39) probably benign Het
Dok5 A T 2: 170,672,042 (GRCm39) R115* probably null Het
Drc7 T C 8: 95,800,925 (GRCm39) I649T probably damaging Het
Efr3a A G 15: 65,729,437 (GRCm39) T713A probably damaging Het
Epg5 G A 18: 78,073,614 (GRCm39) D2494N probably benign Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Glb1l3 T C 9: 26,739,742 (GRCm39) D356G probably damaging Het
Gm1818 A T 12: 48,602,393 (GRCm39) noncoding transcript Het
Gsta5 A T 9: 78,211,679 (GRCm39) Y147F probably benign Het
Hcrtr2 C A 9: 76,161,816 (GRCm39) M191I probably damaging Het
Heatr1 G A 13: 12,426,929 (GRCm39) E685K probably benign Het
Hsd3b2 A T 3: 98,618,979 (GRCm39) L322Q probably damaging Het
Hsd3b9 T A 3: 98,363,747 (GRCm39) R62* probably null Het
Htra4 T C 8: 25,523,675 (GRCm39) T297A probably damaging Het
Il22 C A 10: 118,041,058 (GRCm39) R55S probably damaging Het
Ints1 G A 5: 139,757,631 (GRCm39) T324M possibly damaging Het
Ints15 A G 5: 143,297,504 (GRCm39) F181S probably benign Het
Ints7 T C 1: 191,329,045 (GRCm39) V268A probably damaging Het
Kctd20 G A 17: 29,185,766 (GRCm39) V370I probably damaging Het
Lama1 T A 17: 68,023,770 (GRCm39) M55K probably benign Het
Larp1 C A 11: 57,938,806 (GRCm39) S494* probably null Het
Ldb3 A T 14: 34,277,470 (GRCm39) H262Q possibly damaging Het
Lepr C A 4: 101,637,244 (GRCm39) T711K possibly damaging Het
Mon2 T C 10: 122,852,422 (GRCm39) I984V probably benign Het
Naip2 T A 13: 100,298,243 (GRCm39) S598C probably damaging Het
Oasl1 A G 5: 115,066,217 (GRCm39) M112V probably benign Het
Or2d2b A T 7: 106,705,234 (GRCm39) M278K probably benign Het
Or6c214 A T 10: 129,590,390 (GRCm39) S310T probably benign Het
Or7c19 G T 8: 85,957,567 (GRCm39) A148S probably benign Het
P2ry1 T A 3: 60,910,881 (GRCm39) S7T probably benign Het
Pidd1 G T 7: 141,022,899 (GRCm39) R98S possibly damaging Het
Pkd1l1 A C 11: 8,911,340 (GRCm39) F312L unknown Het
Pla2r1 A T 2: 60,334,524 (GRCm39) M416K possibly damaging Het
Pold1 T C 7: 44,191,325 (GRCm39) E194G possibly damaging Het
Poldip2 T A 11: 78,404,813 (GRCm39) Y77N probably damaging Het
Ppp2r3d G T 9: 101,089,179 (GRCm39) N381K probably benign Het
Prrc2a G A 17: 35,369,018 (GRCm39) P2006L probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsu1 A G 2: 13,221,537 (GRCm39) probably benign Het
Spag17 T A 3: 99,891,795 (GRCm39) D216E possibly damaging Het
Spata31 C A 13: 65,070,556 (GRCm39) Y901* probably null Het
Ssrp1 T A 2: 84,876,066 (GRCm39) Y607* probably null Het
Stk10 T A 11: 32,548,471 (GRCm39) N346K probably benign Het
Surf1 G T 2: 26,806,358 (GRCm39) probably benign Het
Synj2 A T 17: 6,084,163 (GRCm39) E283V probably damaging Het
Tg G A 15: 66,629,855 (GRCm39) probably null Het
Traf1 A T 2: 34,846,289 (GRCm39) D42E probably benign Het
Ttn T C 2: 76,571,209 (GRCm39) I26561M probably damaging Het
Ubp1 T C 9: 113,785,070 (GRCm39) Y128H probably damaging Het
Vmn1r216 T A 13: 23,283,506 (GRCm39) I63K probably benign Het
Vmn1r49 T A 6: 90,049,612 (GRCm39) H130L probably benign Het
Vmn2r90 C T 17: 17,932,567 (GRCm39) T158I probably damaging Het
Vps13d T C 4: 144,780,725 (GRCm39) S885G probably damaging Het
Other mutations in Selenoi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Selenoi APN 5 30,461,222 (GRCm39) missense probably damaging 0.97
IGL01645:Selenoi APN 5 30,462,821 (GRCm39) unclassified probably benign
IGL03136:Selenoi APN 5 30,462,725 (GRCm39) missense probably damaging 1.00
IGL03232:Selenoi APN 5 30,461,259 (GRCm39) missense probably damaging 1.00
R0506:Selenoi UTSW 5 30,471,954 (GRCm39) missense probably benign 0.00
R1750:Selenoi UTSW 5 30,462,771 (GRCm39) missense probably benign 0.32
R3767:Selenoi UTSW 5 30,461,187 (GRCm39) missense probably damaging 1.00
R3925:Selenoi UTSW 5 30,461,086 (GRCm39) missense probably damaging 1.00
R4540:Selenoi UTSW 5 30,461,085 (GRCm39) missense probably damaging 1.00
R7461:Selenoi UTSW 5 30,471,926 (GRCm39) missense possibly damaging 0.50
R7613:Selenoi UTSW 5 30,471,926 (GRCm39) missense possibly damaging 0.50
R8857:Selenoi UTSW 5 30,461,160 (GRCm39) nonsense probably null
R9027:Selenoi UTSW 5 30,437,607 (GRCm39) unclassified probably benign
R9696:Selenoi UTSW 5 30,453,413 (GRCm39) missense probably benign 0.00
Z1176:Selenoi UTSW 5 30,457,764 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCCAAGAGTTACTTTGATTTTGGTG -3'
(R):5'- ACCTATCAATTGGAACCCGGC -3'

Sequencing Primer
(F):5'- ACTTTGATTTTGGTGGAGTTTACTAC -3'
(R):5'- TGGAACCCGGCATTAATAGACTCTAG -3'
Posted On 2016-02-04