Incidental Mutation 'IGL01992:Sepsecs'
ID 183554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sepsecs
Ensembl Gene ENSMUSG00000029173
Gene Name Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
Synonyms SecS, D5Ertd135e, SLA
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL01992
Quality Score
Status
Chromosome 5
Chromosomal Location 52797429-52827050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52801402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 420 (R420Q)
Ref Sequence ENSEMBL: ENSMUSP00000031069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031069] [ENSMUST00000126574] [ENSMUST00000150709]
AlphaFold Q6P6M7
PDB Structure Crystal structure of mouse selenocysteine synthase [X-RAY DIFFRACTION]
Crystal structure of mouse selenocysteine synthase, sodium iodide soak [X-RAY DIFFRACTION]
Crystal structure of mouse selenocysteine synthase, sodium phosphate soak [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000031069
AA Change: R420Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031069
Gene: ENSMUSG00000029173
AA Change: R420Q

DomainStartEndE-ValueType
Pfam:SepSecS 61 459 4e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126574
SMART Domains Protein: ENSMUSP00000114413
Gene: ENSMUSG00000029173

DomainStartEndE-ValueType
Pfam:SLA_LP_auto_ag 1 116 5.8e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150709
SMART Domains Protein: ENSMUSP00000115477
Gene: ENSMUSG00000029173

DomainStartEndE-ValueType
PDB:3HL2|D 1 69 4e-39 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199425
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano3 A G 2: 110,488,564 (GRCm39) M956T probably damaging Het
Ap2b1 T G 11: 83,226,356 (GRCm39) V289G probably damaging Het
Cacnb4 G T 2: 52,355,682 (GRCm39) H208Q probably damaging Het
Calhm6 A T 10: 34,003,533 (GRCm39) C125S probably damaging Het
Cd5l G A 3: 87,275,118 (GRCm39) R219Q probably benign Het
Dzip1l G T 9: 99,545,739 (GRCm39) G663W probably damaging Het
Ecel1 G A 1: 87,077,577 (GRCm39) probably benign Het
Eno1 A G 4: 150,323,993 (GRCm39) T19A probably damaging Het
Fndc3a G A 14: 72,811,996 (GRCm39) T315I probably benign Het
Galr1 T C 18: 82,411,942 (GRCm39) N308S probably damaging Het
Get3 G A 8: 85,745,185 (GRCm39) A294V possibly damaging Het
Maf A T 8: 116,432,702 (GRCm39) S301T probably damaging Het
Map3k5 C T 10: 19,904,879 (GRCm39) R394* probably null Het
Mroh8 C T 2: 157,055,616 (GRCm39) G994D probably damaging Het
Myo10 T C 15: 25,799,634 (GRCm39) V653A possibly damaging Het
Nucks1 A G 1: 131,858,828 (GRCm39) K196E unknown Het
Nup42 T C 5: 24,386,101 (GRCm39) V211A probably benign Het
Or4n4 C A 14: 50,518,798 (GRCm39) R304L probably benign Het
Or7e178 A T 9: 20,226,015 (GRCm39) I59N probably damaging Het
Or7g32 A T 9: 19,408,070 (GRCm39) I9F probably benign Het
Piwil1 C T 5: 128,824,396 (GRCm39) T493I probably null Het
Plcd1 T C 9: 118,905,053 (GRCm39) H216R probably benign Het
Pmp2 A T 3: 10,247,541 (GRCm39) Y49* probably null Het
Rnf38 A G 4: 44,138,806 (GRCm39) V229A probably damaging Het
Saxo2 T C 7: 82,284,108 (GRCm39) D250G probably damaging Het
Scn8a T G 15: 100,866,938 (GRCm39) V98G probably damaging Het
Scnn1a T A 6: 125,315,900 (GRCm39) probably null Het
Slit2 T C 5: 48,395,759 (GRCm39) S725P probably benign Het
Stk16 A G 1: 75,189,835 (GRCm39) Q207R probably benign Het
Tapt1 C T 5: 44,336,332 (GRCm39) V446M probably damaging Het
Tent5c A T 3: 100,379,946 (GRCm39) M270K probably damaging Het
Tex56 C T 13: 35,108,516 (GRCm39) probably null Het
Tnni3k A C 3: 154,667,663 (GRCm39) V250G probably damaging Het
Ttll8 C T 15: 88,799,848 (GRCm39) G531E possibly damaging Het
U2surp T A 9: 95,346,472 (GRCm39) E862D possibly damaging Het
U2surp A G 9: 95,364,234 (GRCm39) F561L probably damaging Het
Unc5d A G 8: 29,142,819 (GRCm39) Y878H probably damaging Het
Ust A G 10: 8,173,842 (GRCm39) M221T probably benign Het
Wasf3 T C 5: 146,392,401 (GRCm39) F157S probably damaging Het
Wdr64 G A 1: 175,533,637 (GRCm39) C91Y probably damaging Het
Zan T C 5: 137,422,368 (GRCm39) Y2750C unknown Het
Other mutations in Sepsecs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02685:Sepsecs APN 5 52,804,534 (GRCm39) missense probably benign
IGL03033:Sepsecs APN 5 52,818,018 (GRCm39) missense probably damaging 1.00
R1051:Sepsecs UTSW 5 52,822,698 (GRCm39) missense probably damaging 1.00
R1240:Sepsecs UTSW 5 52,818,021 (GRCm39) missense probably damaging 1.00
R2014:Sepsecs UTSW 5 52,804,966 (GRCm39) missense probably benign
R2015:Sepsecs UTSW 5 52,804,966 (GRCm39) missense probably benign
R3855:Sepsecs UTSW 5 52,821,616 (GRCm39) missense probably damaging 1.00
R4687:Sepsecs UTSW 5 52,801,213 (GRCm39) missense probably benign 0.00
R5120:Sepsecs UTSW 5 52,818,003 (GRCm39) missense probably damaging 1.00
R5314:Sepsecs UTSW 5 52,805,015 (GRCm39) missense probably benign 0.01
R5468:Sepsecs UTSW 5 52,801,356 (GRCm39) missense probably damaging 1.00
R6924:Sepsecs UTSW 5 52,821,646 (GRCm39) missense probably benign 0.13
R7002:Sepsecs UTSW 5 52,804,550 (GRCm39) critical splice acceptor site probably null
R7507:Sepsecs UTSW 5 52,801,397 (GRCm39) missense probably damaging 0.99
R7527:Sepsecs UTSW 5 52,801,393 (GRCm39) missense possibly damaging 0.85
R7792:Sepsecs UTSW 5 52,801,391 (GRCm39) missense probably damaging 1.00
R7798:Sepsecs UTSW 5 52,804,531 (GRCm39) missense probably benign
R9232:Sepsecs UTSW 5 52,823,344 (GRCm39) missense probably benign 0.01
R9429:Sepsecs UTSW 5 52,801,294 (GRCm39) missense probably benign 0.02
R9797:Sepsecs UTSW 5 52,826,239 (GRCm39) critical splice donor site probably null
RF003:Sepsecs UTSW 5 52,804,533 (GRCm39) missense probably benign 0.04
Posted On 2014-05-07