Incidental Mutation 'R5314:Sepsecs'
ID 405734
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 042897-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R5314 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 52797429-52827050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52805015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 349 (S349T)
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: S349T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000031069
Gene: ENSMUSG00000029173
AA Change: S349T

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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
4930432M17Rik T C 3: 121,473,172 (GRCm39) F109S unknown Het
Ankhd1 A T 18: 36,694,111 (GRCm39) probably null Het
Atp8a1 C T 5: 67,863,248 (GRCm39) probably null Het
Ccdc136 G T 6: 29,417,497 (GRCm39) V707F probably benign Het
Ccdc157 A T 11: 4,100,078 (GRCm39) C91* probably null Het
Ceacam3 T A 7: 16,892,296 (GRCm39) N346K possibly damaging Het
Cfap251 A G 5: 123,460,626 (GRCm39) D1196G probably benign Het
Chd4 A G 6: 125,077,551 (GRCm39) E74G probably damaging Het
Cntn1 A G 15: 92,192,892 (GRCm39) M665V probably benign Het
Crtc2 C T 3: 90,168,348 (GRCm39) Q364* probably null Het
Csf1r T A 18: 61,262,796 (GRCm39) I857N probably damaging Het
Dner C T 1: 84,558,460 (GRCm39) G168D probably damaging Het
Edar T C 10: 58,443,182 (GRCm39) T315A probably benign Het
Egflam A G 15: 7,333,493 (GRCm39) V153A probably damaging Het
Enoph1 T C 5: 100,211,682 (GRCm39) I193T possibly damaging Het
Epc1 A G 18: 6,462,969 (GRCm39) I9T probably damaging Het
Fbxw18 T A 9: 109,522,246 (GRCm39) I208F possibly damaging Het
Gm4841 A G 18: 60,403,364 (GRCm39) V243A probably benign Het
Herc2 T C 7: 55,869,534 (GRCm39) V4297A probably damaging Het
Itsn2 C T 12: 4,677,960 (GRCm39) P106S probably benign Het
Kcnu1 A G 8: 26,352,486 (GRCm39) T218A probably damaging Het
Kif1a A G 1: 92,946,220 (GRCm39) S1677P probably damaging Het
Krt14 A T 11: 100,095,526 (GRCm39) M293K probably damaging Het
Meis3 T A 7: 15,917,989 (GRCm39) V307E probably damaging Het
Nadk2 A C 15: 9,108,401 (GRCm39) I417L probably benign Het
Nav2 AAGCAGCAGCAGCAGCAGCAGCAGCA AAGCAGCAGCAGCAGCAGCAGCA 7: 49,058,440 (GRCm39) probably benign Het
Neb A T 2: 52,171,515 (GRCm39) N1659K probably benign Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Or10w1 T C 19: 13,632,630 (GRCm39) V274A probably benign Het
Or8g32 T C 9: 39,305,785 (GRCm39) S233P probably damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pde3b A T 7: 114,093,772 (GRCm39) N339Y probably damaging Het
Pde8b A G 13: 95,223,361 (GRCm39) F298L possibly damaging Het
Phtf1 G A 3: 103,906,603 (GRCm39) R606H probably damaging Het
Psd4 A G 2: 24,290,528 (GRCm39) D535G possibly damaging Het
Rad51ap1 A G 6: 126,905,121 (GRCm39) V130A probably damaging Het
Rbm11 T C 16: 75,393,474 (GRCm39) F57L probably damaging Het
Rprd2 A G 3: 95,671,401 (GRCm39) V1334A possibly damaging Het
Satb2 T C 1: 56,870,686 (GRCm39) E433G probably damaging Het
Sema6b G A 17: 56,435,413 (GRCm39) R277* probably null Het
Slc35b2 T C 17: 45,877,424 (GRCm39) Y184H probably damaging Het
Slc7a2 T C 8: 41,368,067 (GRCm39) probably null Het
Smc1b T A 15: 84,955,066 (GRCm39) Y1062F probably benign Het
Snrnp70 G A 7: 45,026,476 (GRCm39) R298* probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Taar8c A T 10: 23,977,246 (GRCm39) C189S probably damaging Het
Tas1r2 T A 4: 139,382,672 (GRCm39) D103E probably damaging Het
Timd2 T C 11: 46,568,087 (GRCm39) I236V probably benign Het
Tmem87a A G 2: 120,208,407 (GRCm39) V316A probably damaging Het
Treml2 T A 17: 48,607,601 (GRCm39) L16Q probably damaging Het
Zcchc14 G A 8: 122,335,337 (GRCm39) probably benign Het
Zfp462 T C 4: 55,013,178 (GRCm39) Y567H probably damaging Het
Zfp551 G A 7: 12,150,087 (GRCm39) R441* probably null Het
Zfp930 A G 8: 69,679,373 (GRCm39) I59M 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
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
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'- TGATTCCCTCAGTTGATAGGTTTTACC -3'
(R):5'- TGTTCGCAGTGGCTCTGAAG -3'

Sequencing Primer
(F):5'- GAGAAGCATTAAAGCATTTTAAAGGC -3'
(R):5'- AAGCTCACTGTGTTGTGGTAAAG -3'
Posted On 2016-07-22