Incidental Mutation 'R2015:Sepsecs'
ID 222758
Institutional Source Beutler Lab
Gene Symbol Sepsecs
Ensembl Gene ENSMUSG00000029173
Gene Name Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
Synonyms D5Ertd135e, SLA, SecS
MMRRC Submission 040024-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R2015 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 52640087-52669708 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52647624 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 365 (Q365L)
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: Q365L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031069
Gene: ENSMUSG00000029173
AA Change: Q365L

Pfam:SepSecS 61 459 4e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126574
SMART Domains Protein: ENSMUSP00000114413
Gene: ENSMUSG00000029173

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199425
Meta Mutation Damage Score 0.0898 question?
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik C A 11: 101,987,218 (GRCm38) H35Q probably damaging Het
1700015F17Rik T A 5: 5,455,964 (GRCm38) I106L probably benign Het
Abca9 A T 11: 110,131,846 (GRCm38) M1022K probably benign Het
Abhd4 T A 14: 54,262,832 (GRCm38) H74Q probably damaging Het
Actg1 A G 11: 120,346,810 (GRCm38) S49P possibly damaging Het
Adcy8 C T 15: 64,767,878 (GRCm38) G678S probably benign Het
Aire T C 10: 78,042,958 (GRCm38) D85G probably damaging Het
Akr1c18 T A 13: 4,145,309 (GRCm38) D50V probably damaging Het
Ankrd13a C A 5: 114,792,109 (GRCm38) A185E probably damaging Het
Apc A G 18: 34,315,591 (GRCm38) I1813V probably damaging Het
Armc8 A T 9: 99,483,105 (GRCm38) C661* probably null Het
Bbs10 C T 10: 111,300,855 (GRCm38) Q610* probably null Het
Blm T C 7: 80,502,399 (GRCm38) E600G probably damaging Het
Bpifb9a T C 2: 154,268,200 (GRCm38) probably null Het
Cdk14 T C 5: 5,380,082 (GRCm38) K15R probably benign Het
Cdr1 A G X: 61,184,814 (GRCm38) F249L probably benign Het
Cep250 A C 2: 155,981,453 (GRCm38) H1009P probably damaging Het
Clasp2 A G 9: 113,911,500 (GRCm38) T495A possibly damaging Het
Col19a1 C G 1: 24,559,753 (GRCm38) G53A unknown Het
Cpne1 G A 2: 156,078,388 (GRCm38) R166C probably damaging Het
Dtx3l G A 16: 35,936,427 (GRCm38) H129Y probably benign Het
Ercc3 A G 18: 32,248,429 (GRCm38) T433A probably benign Het
Gm9936 T A 5: 114,857,421 (GRCm38) probably benign Het
Grina T C 15: 76,248,534 (GRCm38) V167A probably damaging Het
Hcfc2 A G 10: 82,738,980 (GRCm38) N618D probably benign Het
Herpud1 T C 8: 94,392,206 (GRCm38) V196A probably benign Het
Hist3h2a T A 11: 58,954,928 (GRCm38) L64Q probably damaging Het
Hlcs A G 16: 94,262,740 (GRCm38) V487A probably benign Het
Hspa9 A T 18: 34,946,648 (GRCm38) Y243N probably damaging Het
Igll1 A G 16: 16,863,775 (GRCm38) S39P probably benign Het
Kdm5a T C 6: 120,431,990 (GRCm38) S1545P probably benign Het
Klra8 C A 6: 130,115,573 (GRCm38) C255F probably damaging Het
Krtap4-6 A T 11: 99,665,572 (GRCm38) C110S unknown Het
Lef1 T A 3: 131,111,587 (GRCm38) I39N probably damaging Het
Lnpep G A 17: 17,579,063 (GRCm38) T110I probably damaging Het
Lrp1 T A 10: 127,540,694 (GRCm38) T4282S probably benign Het
Lrp6 A G 6: 134,480,374 (GRCm38) probably null Het
Ly6g5b A C 17: 35,114,678 (GRCm38) S53A possibly damaging Het
M6pr T G 6: 122,313,373 (GRCm38) N98K probably damaging Het
Mal2 T C 15: 54,600,740 (GRCm38) *176Q probably null Het
Mansc1 T C 6: 134,610,311 (GRCm38) D301G possibly damaging Het
March1 C A 8: 66,121,821 (GRCm38) N11K probably damaging Het
Mast3 T A 8: 70,787,363 (GRCm38) I338F probably benign Het
Mcm3 A G 1: 20,803,580 (GRCm38) L772P probably damaging Het
Mib2 C T 4: 155,657,880 (GRCm38) G176D probably damaging Het
Mier2 A T 10: 79,541,202 (GRCm38) probably null Het
Mogs C T 6: 83,117,650 (GRCm38) R483* probably null Het
Msl2 G T 9: 101,075,251 (GRCm38) probably benign Het
Naa16 A T 14: 79,345,059 (GRCm38) M530K probably damaging Het
Nde1 A T 16: 14,169,457 (GRCm38) probably benign Het
Ndufb10 T C 17: 24,722,529 (GRCm38) probably null Het
Nhsl1 A T 10: 18,511,592 (GRCm38) R205W probably damaging Het
Npffr2 T A 5: 89,582,892 (GRCm38) I227N probably damaging Het
Nup210l T A 3: 90,185,432 (GRCm38) L1231Q probably damaging Het
Olfr1355 T C 10: 78,879,388 (GRCm38) I72T possibly damaging Het
Olfr453 A G 6: 42,744,850 (GRCm38) E271G probably damaging Het
Pclo C A 5: 14,521,501 (GRCm38) P300Q probably damaging Het
Pik3c2a T A 7: 116,350,931 (GRCm38) probably null Het
Plekha5 T A 6: 140,534,564 (GRCm38) probably null Het
Pls1 A G 9: 95,761,365 (GRCm38) V527A possibly damaging Het
Ppfia2 T C 10: 106,474,677 (GRCm38) M15T probably benign Het
Prkd2 T A 7: 16,847,677 (GRCm38) C152* probably null Het
Ptprq T G 10: 107,667,422 (GRCm38) K792Q probably damaging Het
Rbbp8 T C 18: 11,720,624 (GRCm38) M296T probably benign Het
Rfc3 T C 5: 151,647,538 (GRCm38) probably null Het
Rnf17 A G 14: 56,486,969 (GRCm38) N1090S probably benign Het
Sash1 A T 10: 8,729,413 (GRCm38) V1071D probably benign Het
Sdsl G A 5: 120,463,153 (GRCm38) T18M probably damaging Het
Sgta A T 10: 81,051,296 (GRCm38) V45E probably damaging Het
Slc25a46 A T 18: 31,609,725 (GRCm38) H29Q probably benign Het
Slc2a8 A C 2: 32,981,380 (GRCm38) V136G probably benign Het
Smg7 A T 1: 152,860,508 (GRCm38) N166K probably damaging Het
Spata21 C T 4: 141,107,329 (GRCm38) Q505* probably null Het
Strn4 T C 7: 16,833,028 (GRCm38) S458P possibly damaging Het
Tbc1d22a C T 15: 86,299,684 (GRCm38) T248M probably damaging Het
Trabd T A 15: 89,084,726 (GRCm38) M149K possibly damaging Het
Trpv3 A T 11: 73,279,827 (GRCm38) N178Y probably damaging Het
Try5 C T 6: 41,314,651 (GRCm38) probably null Het
Tsg101 C T 7: 46,908,904 (GRCm38) probably null Het
Ube3b A G 5: 114,411,149 (GRCm38) E738G probably damaging Het
Unc13d A G 11: 116,068,755 (GRCm38) S631P probably damaging Het
Unc5d T C 8: 28,758,979 (GRCm38) T297A probably damaging Het
Usp18 A T 6: 121,268,550 (GRCm38) E1V probably damaging Het
Vapb C A 2: 173,771,598 (GRCm38) P97T probably benign Het
Vmn1r33 T A 6: 66,612,372 (GRCm38) D66V probably benign Het
Vmn2r19 T A 6: 123,315,995 (GRCm38) M332K probably benign Het
Vmn2r71 T A 7: 85,620,637 (GRCm38) M452K probably benign Het
Vps13b T C 15: 35,607,142 (GRCm38) S1074P probably damaging Het
Vwde C A 6: 13,208,338 (GRCm38) G182C possibly damaging Het
Wdfy3 A C 5: 101,860,486 (GRCm38) S2778A probably null Het
Zbtb2 T A 10: 4,369,757 (GRCm38) I90F possibly damaging Het
Zfp518b C A 5: 38,672,002 (GRCm38) V887F probably benign Het
Zfp790 A G 7: 29,828,861 (GRCm38) T324A probably benign Het
Zufsp A G 10: 33,929,824 (GRCm38) V437A possibly damaging Het
Other mutations in Sepsecs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Sepsecs APN 5 52,644,060 (GRCm38) missense probably benign 0.00
IGL02685:Sepsecs APN 5 52,647,192 (GRCm38) missense probably benign
IGL03033:Sepsecs APN 5 52,660,676 (GRCm38) missense probably damaging 1.00
R1051:Sepsecs UTSW 5 52,665,356 (GRCm38) missense probably damaging 1.00
R1240:Sepsecs UTSW 5 52,660,679 (GRCm38) missense probably damaging 1.00
R2014:Sepsecs UTSW 5 52,647,624 (GRCm38) missense probably benign
R3855:Sepsecs UTSW 5 52,664,274 (GRCm38) missense probably damaging 1.00
R4687:Sepsecs UTSW 5 52,643,871 (GRCm38) missense probably benign 0.00
R5120:Sepsecs UTSW 5 52,660,661 (GRCm38) missense probably damaging 1.00
R5314:Sepsecs UTSW 5 52,647,673 (GRCm38) missense probably benign 0.01
R5468:Sepsecs UTSW 5 52,644,014 (GRCm38) missense probably damaging 1.00
R6924:Sepsecs UTSW 5 52,664,304 (GRCm38) missense probably benign 0.13
R7002:Sepsecs UTSW 5 52,647,208 (GRCm38) critical splice acceptor site probably null
R7507:Sepsecs UTSW 5 52,644,055 (GRCm38) missense probably damaging 0.99
R7527:Sepsecs UTSW 5 52,644,051 (GRCm38) missense possibly damaging 0.85
R7792:Sepsecs UTSW 5 52,644,049 (GRCm38) missense probably damaging 1.00
R7798:Sepsecs UTSW 5 52,647,189 (GRCm38) missense probably benign
R9232:Sepsecs UTSW 5 52,666,002 (GRCm38) missense probably benign 0.01
R9429:Sepsecs UTSW 5 52,643,952 (GRCm38) missense probably benign 0.02
R9797:Sepsecs UTSW 5 52,668,897 (GRCm38) critical splice donor site probably null
RF003:Sepsecs UTSW 5 52,647,191 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-25