Incidental Mutation 'IGL03202:Sephs1'
ID413027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sephs1
Ensembl Gene ENSMUSG00000026662
Gene Nameselenophosphate synthetase 1
Synonyms1110046B24Rik, SPS1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.902) question?
Stock #IGL03202
Quality Score
Status
Chromosome2
Chromosomal Location4881564-4910557 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4889263 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 92 (I92F)
Ref Sequence ENSEMBL: ENSMUSP00000110671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027973] [ENSMUST00000115019]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027973
AA Change: I92F

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027973
Gene: ENSMUSG00000026662
AA Change: I92F

DomainStartEndE-ValueType
Pfam:AIRS 60 180 1.4e-11 PFAM
Pfam:AIRS_C 192 368 3.6e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115019
AA Change: I92F

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110671
Gene: ENSMUSG00000026662
AA Change: I92F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144565
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,074,047 M1T probably null Het
2810474O19Rik G A 6: 149,326,439 V328I probably benign Het
Ace T A 11: 105,976,962 I168N probably damaging Het
Actr10 T G 12: 70,940,831 C37W probably damaging Het
Atp10b T C 11: 43,234,441 probably null Het
Bend5 A G 4: 111,433,244 N146D possibly damaging Het
Cacna1b A G 2: 24,651,112 F1347L probably damaging Het
Crybg3 T A 16: 59,494,709 I2910F probably damaging Het
Cspg4 T C 9: 56,897,739 S1945P possibly damaging Het
Cxcr4 T G 1: 128,588,904 K340T probably damaging Het
Dnah6 T A 6: 73,144,700 Y1433F probably damaging Het
Eif2ak4 T C 2: 118,400,620 V77A probably damaging Het
Fscn3 A T 6: 28,434,452 H342L probably benign Het
Gm884 T A 11: 103,615,373 E1923V probably benign Het
Gm9843 T C 16: 76,403,346 noncoding transcript Het
Hdac9 T C 12: 34,373,951 E520G probably damaging Het
Itm2b G A 14: 73,365,789 P120L probably damaging Het
Itpa T A 2: 130,667,939 probably benign Het
Lce1l A T 3: 92,850,324 C76S unknown Het
Lin54 A G 5: 100,475,814 S55P possibly damaging Het
Mtfmt C A 9: 65,448,726 P303Q probably damaging Het
Nae1 A T 8: 104,518,179 probably benign Het
Ncapd3 T A 9: 27,071,715 probably benign Het
Olfr381 G A 11: 73,486,525 Q100* probably null Het
Olfr525 A G 7: 140,323,106 M136V possibly damaging Het
Pcnx2 A C 8: 125,772,044 I1572S probably damaging Het
Piezo2 A T 18: 63,011,598 Y2809N probably damaging Het
Pygl G T 12: 70,199,646 Q376K probably benign Het
Rrp12 T C 19: 41,868,766 probably null Het
Taar4 T C 10: 23,960,794 F101L probably damaging Het
Tenm2 A G 11: 36,024,548 I2053T probably damaging Het
Tgfbr3 T G 5: 107,109,764 probably benign Het
Vmn2r108 A T 17: 20,471,057 Y401* probably null Het
Vmn2r87 A G 10: 130,497,222 M53T probably benign Het
Zfp941 A G 7: 140,813,053 V131A probably benign 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
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
R0381: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
Posted On2016-08-02