Incidental Mutation 'IGL03033:Sepsecs'
ID 408543
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 # IGL03033
Quality Score
Status
Chromosome 5
Chromosomal Location 52797429-52827050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52818018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 253 (N253S)
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 damaging
Transcript: ENSMUST00000031069
AA Change: N253S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031069
Gene: ENSMUSG00000029173
AA Change: N253S

DomainStartEndE-ValueType
Pfam:SepSecS 61 459 4e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123856
SMART Domains Protein: ENSMUSP00000114760
Gene: ENSMUSG00000029173

DomainStartEndE-ValueType
PDB:3BCB|A 2 45 4e-24 PDB
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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,452 (GRCm39) T566S probably benign Het
Ap3b1 A G 13: 94,585,003 (GRCm39) T405A probably benign Het
Bicd2 G T 13: 49,533,396 (GRCm39) V587L probably benign Het
Bsn A T 9: 107,993,192 (GRCm39) D853E probably damaging Het
Cacna1i C A 15: 80,246,440 (GRCm39) N611K probably damaging Het
Capn11 A G 17: 45,953,473 (GRCm39) L227P probably damaging Het
Copb2 A G 9: 98,452,426 (GRCm39) N70S probably benign Het
Ddb1 T C 19: 10,603,290 (GRCm39) V866A possibly damaging Het
Dst A G 1: 34,208,826 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,551 (GRCm39) Y117C probably damaging Het
Esyt1 T G 10: 128,352,252 (GRCm39) R758S probably benign Het
Gm20441 A G 10: 75,607,326 (GRCm39) F55S probably damaging Het
Gm20547 A T 17: 35,078,492 (GRCm39) M362K probably damaging Het
Gucy1b2 A G 14: 62,653,393 (GRCm39) V334A probably benign Het
Hnrnph3 A T 10: 62,853,958 (GRCm39) F53L probably benign Het
Kcnk18 C T 19: 59,223,616 (GRCm39) P254S probably benign Het
Lrfn5 T A 12: 61,886,833 (GRCm39) L207Q probably damaging Het
Lrp3 T C 7: 34,902,052 (GRCm39) M589V possibly damaging Het
Nlrp1b A G 11: 71,052,665 (GRCm39) V918A probably benign Het
Nsg2 A G 11: 31,951,836 (GRCm39) T29A probably damaging Het
Or51b4 T A 7: 103,530,724 (GRCm39) H242L probably damaging Het
Pank4 C T 4: 155,059,172 (GRCm39) T435I probably damaging Het
Prom1 C T 5: 44,163,502 (GRCm39) probably null Het
Prr14 G T 7: 127,071,135 (GRCm39) L3F probably damaging Het
Rfx7 A T 9: 72,440,271 (GRCm39) probably benign Het
Rhbdl3 A G 11: 80,237,653 (GRCm39) N295S probably damaging Het
Ripk3 A G 14: 56,024,622 (GRCm39) probably benign Het
Ror1 A T 4: 100,269,092 (GRCm39) N310I possibly damaging Het
Rpl23a T C 11: 78,072,408 (GRCm39) Y74C possibly damaging Het
Rtp3 A T 9: 110,815,162 (GRCm39) probably benign Het
Sbno1 A T 5: 124,514,213 (GRCm39) N1326K probably damaging Het
Setd2 A C 9: 110,380,343 (GRCm39) E1386A possibly damaging Het
Sf3b3 T C 8: 111,537,596 (GRCm39) I1211V possibly damaging Het
Sh3tc2 G A 18: 62,107,549 (GRCm39) V187M possibly damaging Het
Slc30a6 G T 17: 74,716,373 (GRCm39) E136* probably null Het
Sptan1 T A 2: 29,881,045 (GRCm39) V438E probably damaging Het
Stab2 A G 10: 86,832,667 (GRCm39) probably null Het
Sult2a1 T A 7: 13,566,635 (GRCm39) probably benign Het
Tmem198 A G 1: 75,459,612 (GRCm39) D189G possibly damaging Het
Tnfrsf8 C A 4: 145,019,219 (GRCm39) L205F possibly damaging Het
Vmn1r68 T A 7: 10,262,074 (GRCm39) E8V probably damaging Het
Wnk3 G A X: 150,059,924 (GRCm39) D742N probably damaging Het
Xpc A T 6: 91,468,297 (GRCm39) probably null Het
Zfp113 A T 5: 138,149,458 (GRCm39) probably benign Het
Zfp120 A T 2: 149,961,794 (GRCm39) D51E probably benign Het
Zfp473 C T 7: 44,382,522 (GRCm39) V603M probably benign Het
Other mutations in Sepsecs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Sepsecs APN 5 52,801,402 (GRCm39) missense probably benign 0.00
IGL02685:Sepsecs APN 5 52,804,534 (GRCm39) missense probably benign
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 2016-08-02