Incidental Mutation 'R5432:Sephs2'
ID 428094
Institutional Source Beutler Lab
Gene Symbol Sephs2
Ensembl Gene ENSMUSG00000049091
Gene Name selenophosphate synthetase 2
Synonyms Sps2, Ysg3
MMRRC Submission 042997-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.866) question?
Stock # R5432 (G1)
Quality Score 89
Status Not validated
Chromosome 7
Chromosomal Location 126871051-126873227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126872977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 39 (R39W)
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: R39W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081009
Gene: ENSMUSG00000049091
AA Change: R39W

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206759
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt G A 9: 4,309,349 (GRCm39) R30* probably null Het
Abca9 G A 11: 110,032,380 (GRCm39) R746W possibly damaging Het
Akap13 A G 7: 75,252,578 (GRCm39) E236G probably damaging Het
Asb4 A C 6: 5,430,912 (GRCm39) R382S probably damaging Het
Bahcc1 T C 11: 120,178,814 (GRCm39) S2458P probably benign Het
Bspry T C 4: 62,400,952 (GRCm39) V148A probably benign Het
Cacna2d3 A C 14: 28,665,512 (GRCm39) probably null Het
Cblb T A 16: 51,963,228 (GRCm39) H390Q probably damaging Het
Cct8l1 T C 5: 25,721,305 (GRCm39) S7P possibly damaging Het
Cep295 T C 9: 15,262,991 (GRCm39) T191A possibly damaging Het
Cts8 A C 13: 61,398,826 (GRCm39) F227V probably benign Het
Elac1 T C 18: 73,875,864 (GRCm39) T56A possibly damaging Het
Fjx1 T C 2: 102,280,864 (GRCm39) N357S possibly damaging Het
Gm5414 T C 15: 101,533,069 (GRCm39) T453A probably damaging Het
Hcls1 G A 16: 36,781,910 (GRCm39) E340K probably benign Het
Hrc C A 7: 44,986,285 (GRCm39) H479N possibly damaging Het
Ikzf4 A G 10: 128,470,047 (GRCm39) V491A probably damaging Het
Kalrn A G 16: 33,873,992 (GRCm39) S138P probably damaging Het
Lama3 G T 18: 12,705,123 (GRCm39) D3062Y probably damaging Het
Lcor A G 19: 41,573,042 (GRCm39) E599G probably damaging Het
Llgl1 T C 11: 60,598,449 (GRCm39) S442P probably benign Het
Macf1 T A 4: 123,353,129 (GRCm39) K1517* probably null Het
Myo9a A T 9: 59,772,953 (GRCm39) Y995F possibly damaging Het
Nek3 A C 8: 22,638,748 (GRCm39) probably null Het
Nynrin A G 14: 56,101,923 (GRCm39) T531A possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2m12 A T 16: 19,104,839 (GRCm39) I218N probably benign Het
Pdia4 A G 6: 47,775,400 (GRCm39) V470A possibly damaging Het
Pinlyp T C 7: 24,241,892 (GRCm39) D105G probably damaging Het
Pla2g6 A G 15: 79,186,817 (GRCm39) probably null Het
Plpp7 A G 2: 31,985,932 (GRCm39) S37G probably benign Het
Prdm11 G T 2: 92,806,158 (GRCm39) P264Q probably benign Het
Rbl2 G T 8: 91,828,911 (GRCm39) R604L probably benign Het
Rfx7 A G 9: 72,500,584 (GRCm39) T115A probably benign Het
Samd4 A G 14: 47,311,519 (GRCm39) Q279R probably benign Het
Sdha G T 13: 74,475,068 (GRCm39) A591D probably damaging Het
Secisbp2 AAGCAGCAGCAGCAGCAGCA AAGCAGCAGCAGCAGCA 13: 51,828,002 (GRCm39) probably benign Het
Serpina3f T C 12: 104,186,577 (GRCm39) I381T possibly damaging Het
Shd A T 17: 56,283,214 (GRCm39) Q281L probably damaging Het
Sik3 A G 9: 46,034,539 (GRCm39) S98G probably benign Het
Srgap1 T A 10: 121,705,728 (GRCm39) N232I probably damaging Het
Thbs1 A T 2: 117,945,164 (GRCm39) N246Y probably benign Het
Usp9y A G Y: 1,368,022 (GRCm39) probably null Het
Vwde A G 6: 13,190,591 (GRCm39) M500T probably damaging Het
Wdr72 T G 9: 74,183,228 (GRCm39) S1053R probably damaging Het
Yif1b T C 7: 28,945,393 (GRCm39) C192R probably damaging Het
Zc3h13 A G 14: 75,568,687 (GRCm39) S1327G probably damaging Het
Zfp1004 A G 2: 150,033,901 (GRCm39) N74S possibly damaging 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
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
R7601:Sephs2 UTSW 7 126,872,118 (GRCm39) missense probably damaging 1.00
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'- GAGTCCATGCCAATGCTCAG -3'
(R):5'- ATCTGCAGGTATCTGGGCCTTC -3'

Sequencing Primer
(F):5'- ATGCCAATGCTCAGCGAGG -3'
(R):5'- CAGGTATCTGGGCCTTCTGGTC -3'
Posted On 2016-09-01