Incidental Mutation 'R1240:Sepsecs'
ID 151926
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 039307-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R1240 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 52797429-52827050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52818021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 252 (N252S)
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: N252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031069
Gene: ENSMUSG00000029173
AA Change: N252S

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T G 5: 124,227,984 (GRCm39) I86L probably benign Het
Ankfn1 A G 11: 89,282,960 (GRCm39) L229P probably damaging Het
Aoc1 T C 6: 48,882,549 (GRCm39) S164P probably benign Het
Arhgef28 C T 13: 98,066,000 (GRCm39) V1618I probably benign Het
Arpc3 T C 5: 122,542,242 (GRCm39) F88S probably damaging Het
Asgr2 G T 11: 69,987,676 (GRCm39) R58L possibly damaging Het
Bach2 T C 4: 32,563,198 (GRCm39) F432S probably damaging Het
Brms1l C A 12: 55,891,293 (GRCm39) R116S probably damaging Het
Casp2 T A 6: 42,245,879 (GRCm39) C179S probably damaging Het
Ccdc73 A T 2: 104,821,906 (GRCm39) E618D probably benign Het
Cdh6 T A 15: 13,057,541 (GRCm39) D260V possibly damaging Het
Cenpc1 G T 5: 86,183,369 (GRCm39) N473K probably benign Het
Chst2 T C 9: 95,287,536 (GRCm39) E270G possibly damaging Het
Chst9 C T 18: 15,586,231 (GRCm39) E111K probably benign Het
Cyp3a44 T G 5: 145,711,250 (GRCm39) I474L probably benign Het
Dbr1 G T 9: 99,466,073 (GRCm39) E550D probably benign Het
Dph6 T C 2: 114,475,199 (GRCm39) probably null Het
Fam227b T A 2: 125,966,505 (GRCm39) I136L possibly damaging Het
Fcgbp A G 7: 27,819,950 (GRCm39) N2559S probably damaging Het
Fh1 A T 1: 175,431,581 (GRCm39) I435N probably damaging Het
Gab1 A C 8: 81,515,159 (GRCm39) S386R probably damaging Het
Gkn1 T A 6: 87,326,098 (GRCm39) N31Y probably damaging Het
Grk2 A G 19: 4,340,707 (GRCm39) C251R probably damaging Het
H2-DMa G T 17: 34,357,380 (GRCm39) probably null Het
Hp1bp3 T C 4: 137,957,009 (GRCm39) S63P probably damaging Het
Ift74 A G 4: 94,581,174 (GRCm39) probably null Het
Inf2 G A 12: 112,577,210 (GRCm39) R1018Q unknown Het
Kat2b A G 17: 53,931,425 (GRCm39) D141G probably benign Het
Klhl30 T C 1: 91,288,737 (GRCm39) S499P probably benign Het
Lama2 A C 10: 26,917,120 (GRCm39) D2268E probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Marf1 T C 16: 13,964,626 (GRCm39) N258S possibly damaging Het
Mc1r T A 8: 124,134,999 (GRCm39) C251S probably damaging Het
Myo15b C A 11: 115,771,327 (GRCm39) Q257K possibly damaging Het
Nbeal2 A G 9: 110,456,176 (GRCm39) F2431S probably damaging Het
Neb T A 2: 52,186,321 (GRCm39) H917L possibly damaging Het
Nlrp1a A G 11: 71,004,292 (GRCm39) probably null Het
Nr1d2 A T 14: 18,211,891 (GRCm38) M404K probably benign Het
Or4b1d T G 2: 89,969,157 (GRCm39) I109L possibly damaging Het
Or8u8 T G 2: 86,012,453 (GRCm39) M1L possibly damaging Het
Otoa T C 7: 120,755,713 (GRCm39) S1040P probably benign Het
Pctp T C 11: 89,893,640 (GRCm39) D10G probably benign Het
Pja2 G T 17: 64,616,613 (GRCm39) T94K probably benign Het
Plxna1 C T 6: 89,298,032 (GRCm39) V1749M probably damaging Het
Prdm15 C T 16: 97,638,800 (GRCm39) E87K probably damaging Het
Rgsl1 A G 1: 153,660,937 (GRCm39) F1028L probably benign Het
Skint5 A T 4: 113,574,304 (GRCm39) L749Q unknown Het
Slc22a22 G A 15: 57,114,268 (GRCm39) S353F probably benign Het
Slc49a4 A G 16: 35,518,379 (GRCm39) F445L probably benign Het
Slc7a13 A T 4: 19,819,212 (GRCm39) K137N probably damaging Het
Snx13 G T 12: 35,141,405 (GRCm39) V163L probably damaging Het
Synrg A T 11: 83,914,182 (GRCm39) T1115S probably damaging Het
Tenm3 A G 8: 48,740,928 (GRCm39) V1185A possibly damaging Het
Tent5b T C 4: 133,213,815 (GRCm39) F229L probably benign Het
Tg T A 15: 66,700,397 (GRCm39) N118K probably benign Het
Top1mt T C 15: 75,541,916 (GRCm39) K153E probably damaging Het
Trmt11 T C 10: 30,466,821 (GRCm39) probably benign Het
Unc80 A G 1: 66,675,061 (GRCm39) D1953G possibly damaging Het
Vmn2r25 T A 6: 123,828,864 (GRCm39) S137C probably damaging Het
Vwf C A 6: 125,580,271 (GRCm39) probably null 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
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'- ATTTCTGTTGATTCAAGACCAGCAAAGC -3'
(R):5'- GCTACAGAGGGAATTCAGTTTGTCATCC -3'

Sequencing Primer
(F):5'- caaggaggatgaagacagagg -3'
(R):5'- GAATTCAGTTTGTCATCCCCTCTC -3'
Posted On 2014-01-29