Incidental Mutation 'R0381:Sephs1'
ID65466
Institutional Source Beutler Lab
Gene Symbol Sephs1
Ensembl Gene ENSMUSG00000026662
Gene Nameselenophosphate synthetase 1
Synonyms1110046B24Rik, SPS1
MMRRC Submission 038587-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.922) question?
Stock #R0381 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location4881564-4910557 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4899560 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 250 (T250A)
Ref Sequence ENSEMBL: ENSMUSP00000110671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027973] [ENSMUST00000115019]
Predicted Effect probably benign
Transcript: ENSMUST00000027973
AA Change: T250A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027973
Gene: ENSMUSG00000026662
AA Change: T250A

DomainStartEndE-ValueType
Pfam:AIRS 60 180 1.4e-11 PFAM
Pfam:AIRS_C 192 368 3.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115019
AA Change: T250A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110671
Gene: ENSMUSG00000026662
AA Change: T250A

DomainStartEndE-ValueType
Pfam:AIRS 67 164 8.4e-13 PFAM
Pfam:AIRS_C 192 368 7.8e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140045
Meta Mutation Damage Score 0.0952 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 46,108,434 V1297A possibly damaging Het
Agbl2 C T 2: 90,784,098 H25Y probably damaging Het
Akap11 A T 14: 78,513,550 W466R probably benign Het
BC048403 T C 10: 121,745,375 Y94H probably damaging Het
Ccdc66 T A 14: 27,491,933 Q471L probably damaging Het
Dennd1c G A 17: 57,073,822 A210V probably damaging Het
F13b A G 1: 139,510,859 K334E probably damaging Het
Fam186a A C 15: 99,942,174 I2063R probably damaging Het
Fcrl5 T C 3: 87,446,460 Y371H probably damaging Het
Fnbp1 C T 2: 31,033,029 G549D probably benign Het
Fndc3a A G 14: 72,556,627 Y869H probably benign Het
Gm7592 A G 1: 85,526,716 noncoding transcript Het
Gucy2d C A 7: 98,459,002 probably null Het
Hmcn1 C T 1: 150,603,811 C4634Y probably damaging Het
Kctd5 A G 17: 24,059,220 probably null Het
Mettl24 C A 10: 40,746,390 H203N probably damaging Het
Mitf A G 6: 97,993,143 E17G probably damaging Het
Mrc1 G A 2: 14,307,909 D881N probably benign Het
Mrm1 T C 11: 84,818,683 T183A possibly damaging Het
Mut T A 17: 40,937,258 W59R probably benign Het
Mylk G A 16: 34,784,974 probably null Het
Nab2 G A 10: 127,665,067 A19V probably damaging Het
Ntsr2 T A 12: 16,659,718 Y333* probably null Het
Sypl2 T C 3: 108,226,157 E32G possibly damaging Het
Tasp1 T C 2: 139,951,483 K258E probably damaging Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Tenm4 G T 7: 96,905,881 V2561F probably damaging Het
Tmc1 T C 19: 20,799,045 Y650C probably damaging Het
Trim34b T C 7: 104,329,855 L103P probably damaging Het
Usp47 T C 7: 112,063,393 probably null Het
Vmn1r201 T A 13: 22,475,023 W136R probably damaging Het
Vmn2r104 A T 17: 20,048,002 Y68* probably null Het
Wscd2 T A 5: 113,551,131 L66Q probably damaging Het
Other mutations in Sephs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02525:Sephs1 APN 2 4906596 missense probably damaging 0.99
IGL02654:Sephs1 APN 2 4884555 missense probably benign 0.27
IGL03202:Sephs1 APN 2 4889263 missense possibly damaging 0.88
IGL03368:Sephs1 APN 2 4889269 missense possibly damaging 0.54
R0022:Sephs1 UTSW 2 4899560 missense probably benign
R0063:Sephs1 UTSW 2 4899560 missense probably benign
R0063:Sephs1 UTSW 2 4899560 missense probably benign
R0071:Sephs1 UTSW 2 4899560 missense probably benign
R0071:Sephs1 UTSW 2 4899560 missense probably benign
R0179:Sephs1 UTSW 2 4899560 missense probably benign
R0218:Sephs1 UTSW 2 4899560 missense probably benign
R0220:Sephs1 UTSW 2 4899560 missense probably benign
R0378:Sephs1 UTSW 2 4899560 missense probably benign
R0379:Sephs1 UTSW 2 4899560 missense probably benign
R0448:Sephs1 UTSW 2 4899560 missense probably benign
R0634:Sephs1 UTSW 2 4899560 missense probably benign
R0706:Sephs1 UTSW 2 4899560 missense probably benign
R2117:Sephs1 UTSW 2 4899540 missense probably benign
R4496:Sephs1 UTSW 2 4906683 missense probably benign 0.03
R4632:Sephs1 UTSW 2 4896760 missense probably benign 0.04
R5150:Sephs1 UTSW 2 4899510 missense possibly damaging 0.92
R5219:Sephs1 UTSW 2 4891690 missense probably benign 0.22
R5593:Sephs1 UTSW 2 4893287 missense probably benign
R5628:Sephs1 UTSW 2 4889207 missense probably benign 0.04
R5716:Sephs1 UTSW 2 4884578 missense probably benign 0.04
R5852:Sephs1 UTSW 2 4899528 missense possibly damaging 0.48
R5864:Sephs1 UTSW 2 4905582 missense probably damaging 0.99
R8021:Sephs1 UTSW 2 4906623 missense probably benign 0.01
Predicted Primers
Posted On2013-08-08