Incidental Mutation 'R1051:Sepsecs'
ID 93934
Institutional Source Beutler Lab
Gene Symbol Sepsecs
Ensembl Gene ENSMUSG00000029173
Gene Name Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
Synonyms SecS, D5Ertd135e, SLA
MMRRC Submission 039141-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R1051 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 52797429-52827050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52822698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 18 (A18T)
Ref Sequence ENSEMBL: ENSMUSP00000114413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031069] [ENSMUST00000126574] [ENSMUST00000150709]
AlphaFold Q6P6M7
Predicted Effect probably damaging
Transcript: ENSMUST00000031069
AA Change: A143T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031069
Gene: ENSMUSG00000029173
AA Change: A143T

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 damaging
Transcript: ENSMUST00000126574
AA Change: A18T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114413
Gene: ENSMUSG00000029173
AA Change: A18T

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,764,143 (GRCm39) S929P probably damaging Het
Acot1 T C 12: 84,056,378 (GRCm39) V32A probably damaging Het
Ank1 G A 8: 23,583,956 (GRCm39) G353D probably damaging Het
Baiap2l1 T A 5: 144,222,943 (GRCm39) H97L probably damaging Het
Casp8ap2 C A 4: 32,640,790 (GRCm39) P615T probably benign Het
Chrng A T 1: 87,136,785 (GRCm39) D218V possibly damaging Het
Col5a3 C A 9: 20,686,531 (GRCm39) V1365L unknown Het
Ddx49 A G 8: 70,747,335 (GRCm39) probably null Het
Dnaaf2 T C 12: 69,244,569 (GRCm39) D164G probably damaging Het
Eefsec A T 6: 88,274,829 (GRCm39) D378E probably benign Het
Farsb T C 1: 78,420,287 (GRCm39) I535V possibly damaging Het
Fat1 T G 8: 45,497,543 (GRCm39) S4343A probably damaging Het
Fbn2 T C 18: 58,145,425 (GRCm39) Y2737C probably damaging Het
Gtf3c1 T C 7: 125,306,821 (GRCm39) E10G probably damaging Het
Has1 T C 17: 18,068,541 (GRCm39) D271G probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il12rb2 A G 6: 67,333,719 (GRCm39) F187L probably benign Het
Kdsr G A 1: 106,675,310 (GRCm39) Q109* probably null Het
Klb G A 5: 65,536,670 (GRCm39) A667T probably damaging Het
Krba1 C T 6: 48,390,332 (GRCm39) R704C possibly damaging Het
Lenep A T 3: 89,309,780 (GRCm39) I56N possibly damaging Het
Lipc T C 9: 70,709,398 (GRCm39) I450V probably benign Het
Myh6 T C 14: 55,186,984 (GRCm39) N1329S probably benign Het
Myo5c T A 9: 75,198,165 (GRCm39) M1330K probably benign Het
Myo9b A G 8: 71,808,466 (GRCm39) E1691G probably damaging Het
Ninl C G 2: 150,812,046 (GRCm39) E240Q probably damaging Het
Nlgn1 T C 3: 25,966,869 (GRCm39) S195G probably damaging Het
Nlrp4c A G 7: 6,068,942 (GRCm39) E281G probably benign Het
Olfm2 T C 9: 20,579,759 (GRCm39) T331A probably damaging Het
Or1o1 A T 17: 37,717,341 (GRCm39) I301F possibly damaging Het
Or2d2 T A 7: 106,728,123 (GRCm39) D159V possibly damaging Het
Or8b9 T C 9: 37,766,657 (GRCm39) I181T probably damaging Het
Plekhh2 T C 17: 84,829,255 (GRCm39) probably null Het
Pramel4 A G 4: 143,795,068 (GRCm39) E485G possibly damaging Het
Prss12 A G 3: 123,279,174 (GRCm39) D417G probably null Het
Rhpn1 A T 15: 75,584,241 (GRCm39) Y456F probably damaging Het
Rnpc3 C T 3: 113,423,595 (GRCm39) E37K possibly damaging Het
Rp1l1 T G 14: 64,269,984 (GRCm39) L1857V probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sgms1 T A 19: 32,137,439 (GRCm39) L42F probably damaging Het
Sipa1l1 A T 12: 82,496,119 (GRCm39) D1720V possibly damaging Het
Slc13a3 A T 2: 165,250,740 (GRCm39) probably null Het
Slc25a40 A T 5: 8,480,450 (GRCm39) M67L probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Spesp1 T C 9: 62,179,924 (GRCm39) D328G possibly damaging Het
Sspo T A 6: 48,468,389 (GRCm39) C4363* probably null Het
Tbc1d8 C T 1: 39,420,534 (GRCm39) W666* probably null Het
Tubgcp2 T C 7: 139,578,809 (GRCm39) D721G probably benign Het
Vps54 CTTAAT CT 11: 21,228,001 (GRCm39) probably null Het
Wsb1 T C 11: 79,137,059 (GRCm39) S113G probably damaging Het
Zfp382 T C 7: 29,833,435 (GRCm39) F362S probably damaging Het
Zfp553 G T 7: 126,835,977 (GRCm39) G511* probably null Het
Zfp568 C T 7: 29,721,954 (GRCm39) Q299* probably null Het
Zfp688 G A 7: 127,018,397 (GRCm39) P243S probably damaging 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
IGL03033:Sepsecs APN 5 52,818,018 (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
Predicted Primers PCR Primer
(F):5'- GCACATAGAGGTCACCTCACAAGCAA -3'
(R):5'- GCCCATCACCGGGAAAACTGC -3'

Sequencing Primer
(F):5'- CAAGCAATTATACAAATGCGAATGG -3'
(R):5'- tccatctgcctctctgcc -3'
Posted On 2014-01-05