Incidental Mutation 'IGL03136:Selenoi'
ID 410520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selenoi
Ensembl Gene ENSMUSG00000075703
Gene Name selenoprotein I
Synonyms D5Wsu178e, C79563, 4933402G07Rik, Ept1
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # IGL03136
Quality Score
Status
Chromosome 5
Chromosomal Location 30437579-30477425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30462725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 197 (Y197H)
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 damaging
Transcript: ENSMUST00000132404
AA Change: Y172H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117343
Gene: ENSMUSG00000075703
AA Change: Y172H

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: Y197H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118368
Gene: ENSMUSG00000075703
AA Change: Y197H

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
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,719,122 (GRCm39) L7S unknown Het
Abr C T 11: 76,316,121 (GRCm39) W571* probably null Het
Adam18 A T 8: 25,131,852 (GRCm39) C420S probably damaging Het
Akap5 G T 12: 76,376,649 (GRCm39) E694* probably null Het
Bbs1 T C 19: 4,941,019 (GRCm39) K565R probably benign Het
Brix1 A G 15: 10,478,852 (GRCm39) F189S probably damaging Het
Cnot4 C A 6: 35,028,176 (GRCm39) R480L probably damaging Het
Ctu2 A G 8: 123,205,940 (GRCm39) probably benign Het
Dhcr7 A G 7: 143,401,103 (GRCm39) H422R probably damaging Het
Dock1 A G 7: 134,770,118 (GRCm39) M1793V probably benign Het
Dock7 A G 4: 98,892,028 (GRCm39) F853L probably damaging Het
Fkbp15 G A 4: 62,258,466 (GRCm39) probably benign Het
Ftsj3 C T 11: 106,144,639 (GRCm39) D117N probably damaging Het
Gphn A G 12: 78,528,107 (GRCm39) I142V possibly damaging Het
Hsd3b1 G A 3: 98,760,301 (GRCm39) A230V probably damaging Het
Hydin G A 8: 111,145,156 (GRCm39) A836T probably benign Het
Ift52 G T 2: 162,867,254 (GRCm39) E71* probably null Het
Ms4a14 T C 19: 11,281,775 (GRCm39) D261G possibly damaging Het
Nid1 G A 13: 13,675,084 (GRCm39) V935I probably benign Het
Nrap T C 19: 56,330,687 (GRCm39) K1008E possibly damaging Het
Nup210 A C 6: 91,005,843 (GRCm39) V1340G probably benign Het
Or2aj4 A T 16: 19,385,103 (GRCm39) F177I probably damaging Het
Or5b94 T A 19: 12,652,331 (GRCm39) I254N probably damaging Het
Or8d6 T C 9: 39,854,332 (GRCm39) Y259H probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Pdcd6ip T A 9: 113,520,567 (GRCm39) N139I probably damaging Het
Pgbd1 A G 13: 21,617,609 (GRCm39) V80A possibly damaging Het
Pigw A G 11: 84,768,603 (GRCm39) I242T probably benign Het
Prtg T G 9: 72,764,267 (GRCm39) V580G possibly damaging Het
Ptpn13 T A 5: 103,691,329 (GRCm39) N1065K possibly damaging Het
Qrich1 G A 9: 108,422,117 (GRCm39) R577H probably damaging Het
Ryr3 G A 2: 112,506,319 (GRCm39) probably benign Het
Slc47a2 A G 11: 61,201,591 (GRCm39) C343R probably benign Het
Smurf2 A T 11: 106,721,874 (GRCm39) D527E probably benign Het
Spam1 C T 6: 24,797,010 (GRCm39) probably benign Het
Stkld1 T C 2: 26,841,435 (GRCm39) V460A probably benign Het
Tgoln1 G A 6: 72,591,096 (GRCm39) R339W probably damaging Het
Tprg1 T C 16: 25,231,512 (GRCm39) probably benign Het
Treml1 T G 17: 48,671,879 (GRCm39) probably benign Het
Ttc39b A T 4: 83,155,517 (GRCm39) V497E probably damaging Het
Vmn1r223 A G 13: 23,433,933 (GRCm39) T176A possibly damaging Het
Vmn2r75 A T 7: 85,797,911 (GRCm39) I634N possibly damaging Het
Vps13c A G 9: 67,857,592 (GRCm39) E2608G probably damaging Het
Zfp575 A G 7: 24,285,381 (GRCm39) C87R probably damaging Het
Zfp790 T A 7: 29,529,320 (GRCm39) Y668* probably null 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
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
R4797:Selenoi UTSW 5 30,457,740 (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
Posted On 2016-08-02