Incidental Mutation 'R3855:Sepsecs'
ID 276102
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 040901-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R3855 (G1)
Quality Score 207
Status Validated
Chromosome 5
Chromosomal Location 52797429-52827050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52821616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 74 (R74C)
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: R199C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031069
Gene: ENSMUSG00000029173
AA Change: R199C

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

PDB:3BCB|A 2 45 4e-24 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000126574
AA Change: R74C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114413
Gene: ENSMUSG00000029173
AA Change: R74C

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

PDB:3HL2|D 1 69 4e-39 PDB
Meta Mutation Damage Score 0.1402 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna A T 4: 63,291,705 (GRCm39) S1144R probably damaging Het
Apbb1ip T C 2: 22,765,187 (GRCm39) S623P unknown Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Ccnq T C 11: 78,642,013 (GRCm39) N159S probably benign Het
Cdc42bpa A G 1: 179,983,543 (GRCm39) probably benign Het
Cog2 T C 8: 125,256,742 (GRCm39) probably null Het
Dennd4c G A 4: 86,698,084 (GRCm39) V191M probably damaging Het
Dthd1 T A 5: 62,984,472 (GRCm39) H392Q probably benign Het
Dthd1 T C 5: 63,045,366 (GRCm39) V710A probably benign Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm4868 A G 5: 125,925,609 (GRCm39) noncoding transcript Het
Gpr179 T C 11: 97,232,260 (GRCm39) E648G probably damaging Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Itgb3bp T C 4: 99,686,957 (GRCm39) E76G possibly damaging Het
Khk A G 5: 31,084,401 (GRCm39) D82G probably benign Het
Kif17 A G 4: 138,018,821 (GRCm39) S533G probably benign Het
Kmt2a A G 9: 44,741,796 (GRCm39) probably benign Het
Kmt5c T C 7: 4,749,255 (GRCm39) F104S probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mdh1 C T 11: 21,509,281 (GRCm39) V234I probably benign Het
Nbas T A 12: 13,329,415 (GRCm39) I120N possibly damaging Het
Nfia A G 4: 97,951,259 (GRCm39) H362R probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nme5 A G 18: 34,702,884 (GRCm39) S135P possibly damaging Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Nufip2 T C 11: 77,583,715 (GRCm39) V543A probably damaging Het
Or1l4b A T 2: 37,036,835 (GRCm39) I204F possibly damaging Het
Or2y10 A G 11: 49,454,918 (GRCm39) T57A probably damaging Het
Otog T C 7: 45,923,184 (GRCm39) S1020P possibly damaging Het
Pear1 T C 3: 87,659,228 (GRCm39) H814R possibly damaging Het
Pkd1l1 A G 11: 8,915,047 (GRCm39) probably null Het
Pla2g4a T A 1: 149,705,928 (GRCm39) I711F possibly damaging Het
Ppig G A 2: 69,579,719 (GRCm39) V418I unknown Het
Prg4 T C 1: 150,327,751 (GRCm39) Y234C probably damaging Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Sh3bp1 C T 15: 78,785,361 (GRCm39) probably benign Het
Sox11 C A 12: 27,391,501 (GRCm39) G303C probably damaging Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vps26c A G 16: 94,311,665 (GRCm39) F95L probably benign Het
Xylt1 T G 7: 117,192,777 (GRCm39) L361R probably damaging Het
Zfp512 A G 5: 31,637,593 (GRCm39) R505G possibly 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
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
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

Sequencing Primer
Posted On 2015-04-06