Incidental Mutation 'R7601:Sephs2'
ID 588008
Institutional Source Beutler Lab
Gene Symbol Sephs2
Ensembl Gene ENSMUSG00000049091
Gene Name selenophosphate synthetase 2
Synonyms Sps2, Ysg3
MMRRC Submission 045643-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.866) question?
Stock # R7601 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126871051-126873227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126872118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 325 (I325K)
Ref Sequence ENSEMBL: ENSMUSP00000081009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082428]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000082428
AA Change: I325K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081009
Gene: ENSMUSG00000049091
AA Change: I325K

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
low complexity region 91 105 N/A INTRINSIC
Pfam:AIRS 118 234 1e-10 PFAM
Pfam:AIRS_C 246 421 2.3e-30 PFAM
low complexity region 433 452 N/A INTRINSIC
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine (Sec) that is co-translationally incorporated into selenoproteins at in-frame UGA codons, which normally signal translation termination. This protein itself contains a Sec residue in its predicted active site. The 3' UTR of this gene has a stem-loop secondary structure called a selenocysteine insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A G 17: 36,206,741 (GRCm39) L16P probably damaging Het
Abcc5 A T 16: 20,193,882 (GRCm39) Y746* probably null Het
Abcd4 A G 12: 84,660,719 (GRCm39) Y129H possibly damaging Het
Acot10 T C 15: 20,665,715 (GRCm39) D342G probably damaging Het
Als2 G T 1: 59,209,161 (GRCm39) T1466K probably benign Het
Calcr A T 6: 3,687,603 (GRCm39) I465N probably benign Het
Ccndbp1 T C 2: 120,846,627 (GRCm39) S309P probably damaging Het
Cdh22 A G 2: 164,954,466 (GRCm39) L685P probably damaging Het
Cenps A G 4: 149,216,772 (GRCm39) V39A possibly damaging Het
Dbr1 G T 9: 99,464,655 (GRCm39) E145* probably null Het
Dync1i1 T A 6: 5,905,129 (GRCm39) V161E probably benign Het
Eeig2 T A 3: 108,895,628 (GRCm39) T151S possibly damaging Het
F10 A G 8: 13,100,781 (GRCm39) T232A probably benign Het
Faim2 C T 15: 99,398,147 (GRCm39) G279D probably damaging Het
Fam114a2 T C 11: 57,405,042 (GRCm39) K20R possibly damaging Het
Hspa4l T C 3: 40,738,788 (GRCm39) probably null Het
Impg2 A T 16: 56,080,394 (GRCm39) I733L probably benign Het
Itga11 T C 9: 62,604,208 (GRCm39) V32A probably benign Het
Lima1 G A 15: 99,717,577 (GRCm39) P143L probably benign Het
Lum A T 10: 97,404,168 (GRCm39) Y21F probably damaging Het
Muc6 A G 7: 141,216,454 (GRCm39) S2740P unknown Het
Nav1 A T 1: 135,388,176 (GRCm39) D1082E unknown Het
Nmur1 A C 1: 86,315,741 (GRCm39) C41W probably damaging Het
Or10ad1c G A 15: 98,084,860 (GRCm39) H273Y probably damaging Het
Or4k37 T C 2: 111,159,565 (GRCm39) V267A probably benign Het
Or5k3 A G 16: 58,969,597 (GRCm39) N128S probably benign Het
Or8b41 T C 9: 38,054,674 (GRCm39) V76A probably benign Het
Pdcd11 T C 19: 47,094,808 (GRCm39) S531P not run Het
Phtf1 T A 3: 103,901,161 (GRCm39) H403Q probably benign Het
Piezo1 C T 8: 123,210,220 (GRCm39) probably null Het
Pigh G A 12: 79,132,479 (GRCm39) T111I probably damaging Het
Plekhf1 T C 7: 37,921,304 (GRCm39) E88G probably damaging Het
Pnliprp1 C T 19: 58,720,526 (GRCm39) T134M probably damaging Het
Ptges T A 2: 30,782,809 (GRCm39) Y81F probably benign Het
Sema7a T C 9: 57,847,560 (GRCm39) S43P probably benign Het
Slc45a1 A T 4: 150,713,994 (GRCm39) N750K possibly damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Tbc1d23 A T 16: 57,001,897 (GRCm39) M519K probably benign Het
Trdn A G 10: 33,072,152 (GRCm39) E273G probably benign Het
Ubtf G A 11: 102,197,480 (GRCm39) S724F unknown Het
Was GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC X: 7,952,450 (GRCm39) probably benign Het
Other mutations in Sephs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01694:Sephs2 APN 7 126,872,259 (GRCm39) missense probably benign 0.43
IGL03006:Sephs2 APN 7 126,872,206 (GRCm39) missense probably benign
IGL03295:Sephs2 APN 7 126,871,941 (GRCm39) missense possibly damaging 0.60
R1381:Sephs2 UTSW 7 126,872,139 (GRCm39) missense probably damaging 1.00
R2259:Sephs2 UTSW 7 126,872,649 (GRCm39) missense possibly damaging 0.80
R4876:Sephs2 UTSW 7 126,872,219 (GRCm39) nonsense probably null
R5054:Sephs2 UTSW 7 126,872,564 (GRCm39) missense probably benign 0.05
R5432:Sephs2 UTSW 7 126,872,977 (GRCm39) missense probably damaging 1.00
R6197:Sephs2 UTSW 7 126,872,073 (GRCm39) missense probably damaging 1.00
R6237:Sephs2 UTSW 7 126,873,118 (GRCm39) start gained probably benign
R7138:Sephs2 UTSW 7 126,872,187 (GRCm39) missense possibly damaging 0.96
R7181:Sephs2 UTSW 7 126,872,992 (GRCm39) missense probably benign
R7685:Sephs2 UTSW 7 126,872,506 (GRCm39) missense possibly damaging 0.46
R8941:Sephs2 UTSW 7 126,872,206 (GRCm39) missense probably benign
R9263:Sephs2 UTSW 7 126,872,122 (GRCm39) missense probably damaging 1.00
R9526:Sephs2 UTSW 7 126,872,346 (GRCm39) missense probably damaging 1.00
X0061:Sephs2 UTSW 7 126,872,727 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- ACCCTCTCCGTACTTGGAAG -3'
(R):5'- AATGGCTGGATAATCCTGAGAAATG -3'

Sequencing Primer
(F):5'- CTGCTCTCTTGGCAGACAAATCAG -3'
(R):5'- GGAATAAAATCAAGATGGTGGTTTCC -3'
Posted On 2019-10-24