Incidental Mutation 'IGL01645:Selenoi'
ID 102649
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 # IGL01645
Quality Score
Status
Chromosome 5
Chromosomal Location 30437579-30477425 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 30462821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114389 (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 benign
Transcript: ENSMUST00000145167
SMART Domains Protein: ENSMUSP00000118368
Gene: ENSMUSG00000075703

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C T 7: 45,764,477 (GRCm39) C1156Y possibly damaging Het
Armh4 T C 14: 50,011,011 (GRCm39) E232G probably damaging Het
Atp8b1 G A 18: 64,679,184 (GRCm39) H766Y probably benign Het
Cacna2d1 C A 5: 16,217,389 (GRCm39) probably null Het
Card11 T A 5: 140,863,778 (GRCm39) T987S probably benign Het
Dennd2b T A 7: 109,126,841 (GRCm39) K540* probably null Het
Dmxl2 A T 9: 54,286,017 (GRCm39) Y2723N possibly damaging Het
Dnah11 T A 12: 118,150,733 (GRCm39) I342F possibly damaging Het
Dnajc10 A G 2: 80,170,871 (GRCm39) H454R possibly damaging Het
Dpy19l3 T C 7: 35,394,763 (GRCm39) T592A probably benign Het
Eea1 T A 10: 95,825,451 (GRCm39) S49T probably damaging Het
Esd T A 14: 74,987,159 (GRCm39) N294K probably benign Het
Fmo3 A G 1: 162,791,575 (GRCm39) V234A possibly damaging Het
Folh1 A G 7: 86,391,435 (GRCm39) F420L probably damaging Het
Gabra1 T C 11: 42,026,389 (GRCm39) N301S probably damaging Het
Gm5422 A T 10: 31,126,069 (GRCm39) noncoding transcript Het
Gorab A T 1: 163,214,000 (GRCm39) L310Q possibly damaging Het
Gsdme A G 6: 50,228,316 (GRCm39) Y51H probably damaging Het
Hrob T C 11: 102,146,012 (GRCm39) L96P probably damaging Het
Itpr1 T C 6: 108,450,560 (GRCm39) I1964T possibly damaging Het
Lmbr1 A G 5: 29,440,053 (GRCm39) L410P probably damaging Het
Lrrc37a T C 11: 103,395,090 (GRCm39) R112G probably benign Het
Mrgpra6 T C 7: 46,835,681 (GRCm39) T247A probably benign Het
Mroh4 A G 15: 74,483,207 (GRCm39) probably benign Het
Mycbpap T C 11: 94,394,293 (GRCm39) probably null Het
Myoz2 T A 3: 122,827,881 (GRCm39) K12N probably damaging Het
Odad2 T C 18: 7,268,491 (GRCm39) S343G probably benign Het
Or1d2 T C 11: 74,256,359 (GRCm39) I288T possibly damaging Het
P3h1 T G 4: 119,093,980 (GRCm39) F212V probably damaging Het
Pcnx2 T C 8: 126,614,656 (GRCm39) D265G probably damaging Het
Pkd1l3 C T 8: 110,361,934 (GRCm39) T992I possibly damaging Het
Prss58 T C 6: 40,874,244 (GRCm39) D144G probably damaging Het
Pth2 T A 7: 44,830,764 (GRCm39) L29Q possibly damaging Het
Rab1b A C 19: 5,154,962 (GRCm39) probably benign Het
Rasa2 A T 9: 96,464,834 (GRCm39) C190* probably null Het
Scn9a T C 2: 66,317,986 (GRCm39) K1501E possibly damaging Het
Slc11a2 T C 15: 100,286,999 (GRCm39) N558S probably benign Het
Sox10 T C 15: 79,040,539 (GRCm39) I173V probably benign Het
Sra1 A C 18: 36,804,526 (GRCm39) F476C probably damaging Het
Tmem119 T A 5: 113,933,409 (GRCm39) K131* probably null Het
Trim12c T A 7: 103,994,261 (GRCm39) K198* probably null Het
Ttn A G 2: 76,681,904 (GRCm39) probably benign Het
Unc119b C T 5: 115,265,371 (GRCm39) V154I probably benign Het
Usp47 T A 7: 111,654,069 (GRCm39) S108R probably damaging Het
Vmn1r15 T A 6: 57,235,547 (GRCm39) C138* probably null Het
Vmn1r191 T C 13: 22,363,614 (GRCm39) I47V probably benign Het
Wnt3 C T 11: 103,703,204 (GRCm39) A229V probably benign Het
Other mutations in Selenoi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Selenoi APN 5 30,461,222 (GRCm39) missense probably damaging 0.97
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
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 2014-01-21