Incidental Mutation 'IGL01537:Selenoi'
ID 89996
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: 0.880) question?
Stock # IGL01537
Quality Score
Status
Chromosome 5
Chromosomal Location 30437579-30477425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30461222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 128 (V128F)
Ref Sequence ENSEMBL: ENSMUSP00000117343 (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: V128F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117343
Gene: ENSMUSG00000075703
AA Change: V128F

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 46 188 1.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138001
Predicted Effect possibly damaging
Transcript: ENSMUST00000145167
AA Change: V153F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118368
Gene: ENSMUSG00000075703
AA Change: V153F

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 110,459,312 (GRCm39) R317G probably benign Het
B130006D01Rik T A 11: 95,616,992 (GRCm39) probably benign Het
Brinp2 T C 1: 158,074,379 (GRCm39) T581A probably damaging Het
Cacna1b A T 2: 24,548,540 (GRCm39) I1179N probably damaging Het
Cacnb3 A G 15: 98,541,301 (GRCm39) D434G probably damaging Het
Cdh19 T C 1: 110,847,341 (GRCm39) T423A possibly damaging Het
Chkb C T 15: 89,311,986 (GRCm39) probably benign Het
Cit T C 5: 116,071,913 (GRCm39) Y623H probably benign Het
Clstn3 G A 6: 124,408,559 (GRCm39) R918C possibly damaging Het
Dnah2 T A 11: 69,406,906 (GRCm39) M200L probably benign Het
Dnah9 T A 11: 65,838,506 (GRCm39) H3097L probably benign Het
Dst T A 1: 34,314,401 (GRCm39) L4217H probably damaging Het
Fam107b T A 2: 3,779,565 (GRCm39) L80Q probably damaging Het
Fgfr1 T A 8: 26,045,595 (GRCm39) C55S probably damaging Het
Igkv4-71 C A 6: 69,220,264 (GRCm39) G78* probably null Het
Igsf10 A G 3: 59,237,452 (GRCm39) S910P probably benign Het
Ikzf3 T C 11: 98,407,718 (GRCm39) D41G probably damaging Het
Larp1 T A 11: 57,933,648 (GRCm39) I358N possibly damaging Het
Marchf5 C T 19: 37,188,067 (GRCm39) probably benign Het
Mpdz T C 4: 81,287,895 (GRCm39) T455A probably damaging Het
Myo1b A G 1: 51,815,510 (GRCm39) V612A possibly damaging Het
Nipbl T C 15: 8,380,023 (GRCm39) D923G probably benign Het
Nlrp4b T C 7: 10,448,918 (GRCm39) F7L probably damaging Het
Npas4 T C 19: 5,037,355 (GRCm39) N313S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5 T A 9: 39,861,921 (GRCm39) T49S probably benign Het
Or13a22 A G 7: 140,072,751 (GRCm39) N67D probably damaging Het
Or4c107 T C 2: 88,788,885 (GRCm39) V25A probably benign Het
Pclo T C 5: 14,589,647 (GRCm39) V649A unknown Het
Pom121 A G 5: 135,421,389 (GRCm39) probably benign Het
Ptcd2 A T 13: 99,466,521 (GRCm39) I224N possibly damaging Het
Rsrp1 C T 4: 134,651,290 (GRCm39) P18L unknown Het
Sash1 A T 10: 8,605,422 (GRCm39) N989K probably damaging Het
Scn2a T A 2: 65,546,219 (GRCm39) H927Q probably benign Het
Slc25a42 T C 8: 70,642,092 (GRCm39) I117V probably benign Het
Spata1 A G 3: 146,195,558 (GRCm39) probably benign Het
Sptlc3 A T 2: 139,431,615 (GRCm39) Y379F possibly damaging Het
Tent4a A T 13: 69,648,678 (GRCm39) S693T probably benign Het
Tinag C T 9: 76,952,885 (GRCm39) R33K probably benign Het
Trappc8 T C 18: 20,968,061 (GRCm39) D1092G probably benign Het
Xntrpc A G 7: 101,722,401 (GRCm39) E22G probably damaging Het
Zbtb7b A G 3: 89,287,278 (GRCm39) M397T possibly damaging Het
Zgpat A G 2: 181,020,682 (GRCm39) D285G probably benign Het
Other mutations in Selenoi
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-03