Incidental Mutation 'R7507:Sepsecs'
ID 581839
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 045580-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R7507 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 52797429-52827050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52801397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 422 (F422L)
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: F422L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031069
Gene: ENSMUSG00000029173
AA Change: F422L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (43/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,652,177 (GRCm39) T1359S probably benign Het
Adam8 C T 7: 139,567,091 (GRCm39) probably null Het
Adnp2 A G 18: 80,174,068 (GRCm39) S114P probably benign Het
BC051019 T A 7: 109,315,475 (GRCm39) D260V possibly damaging Het
Btnl10 A G 11: 58,811,384 (GRCm39) T236A probably benign Het
Cacna1c A T 6: 119,034,200 (GRCm39) L109Q Het
Clint1 C A 11: 45,799,776 (GRCm39) Q512K possibly damaging Het
Dop1a A G 9: 86,418,002 (GRCm39) N1957S probably benign Het
Gosr1 A T 11: 76,645,240 (GRCm39) N101K probably benign Het
Gria1 A G 11: 57,119,765 (GRCm39) T350A probably benign Het
Hs3st5 T A 10: 36,709,011 (GRCm39) V182D probably damaging Het
Igkv4-80 G T 6: 68,993,677 (GRCm39) S71R probably benign Het
Kif2b A G 11: 91,468,269 (GRCm39) F5L probably benign Het
Med1 A G 11: 98,048,852 (GRCm39) L648P probably damaging Het
Mgat4a G A 1: 37,491,608 (GRCm39) L375F probably damaging Het
Mlph A T 1: 90,855,429 (GRCm39) probably benign Het
Nbeal1 T C 1: 60,274,626 (GRCm39) S346P probably damaging Het
Nhlrc2 G A 19: 56,585,810 (GRCm39) V682I not run Het
Nos3 T C 5: 24,577,642 (GRCm39) M552T probably damaging Het
Or4e2 A G 14: 52,687,930 (GRCm39) N20S probably benign Het
Or5w19 T C 2: 87,698,713 (GRCm39) I126T probably damaging Het
Or6c209 T A 10: 129,483,366 (GRCm39) I123N probably damaging Het
Pcdha5 A T 18: 37,093,909 (GRCm39) R139S probably benign Het
Pik3r1 G A 13: 101,845,490 (GRCm39) S147L probably benign Het
Plppr4 T A 3: 117,115,754 (GRCm39) H701L possibly damaging Het
Pnpla1 T C 17: 29,095,791 (GRCm39) Y71H probably damaging Het
Ppp1r12c G A 7: 4,486,970 (GRCm39) A521V probably benign Het
Rasgrp3 C A 17: 75,804,055 (GRCm39) D119E probably damaging Het
Rnf216 A T 5: 143,075,557 (GRCm39) D342E probably damaging Het
Rnpc3 A T 3: 113,410,410 (GRCm39) S294T probably benign Het
Sgcz T A 8: 38,420,200 (GRCm39) E17D probably benign Het
Slc2a5 T C 4: 150,210,107 (GRCm39) Y31H probably damaging Het
Spag9 A G 11: 93,958,906 (GRCm39) E310G probably benign Het
Stat4 A G 1: 52,117,733 (GRCm39) Y288C probably damaging Het
Tet1 A G 10: 62,668,671 (GRCm39) probably null Het
Trim62 A G 4: 128,790,664 (GRCm39) T154A probably benign Het
Tubb4a T C 17: 57,388,642 (GRCm39) D128G probably damaging Het
Ube3d G A 9: 86,304,939 (GRCm39) A301V possibly damaging Het
Utp6 A G 11: 79,833,012 (GRCm39) S444P possibly damaging Het
Vasn T C 16: 4,467,345 (GRCm39) C431R probably damaging Het
Zfp260 T C 7: 29,804,291 (GRCm39) S64P probably damaging Het
Zfp451 A T 1: 33,808,840 (GRCm39) M1007K probably damaging Het
Zfp606 C A 7: 12,226,868 (GRCm39) Q330K 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
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
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'- AATGTCCGCATCTTCAGCTTTG -3'
(R):5'- AGCTGACAGTTTGTTTGCACTG -3'

Sequencing Primer
(F):5'- CATCTTCAGCTTTGTTGCGGTCAG -3'
(R):5'- GCACTGGCCACAATTTATGC -3'
Posted On 2019-10-17