Incidental Mutation 'R0220:Sephs1'
ID33759
Institutional Source Beutler Lab
Gene Symbol Sephs1
Ensembl Gene ENSMUSG00000026662
Gene Nameselenophosphate synthetase 1
Synonyms1110046B24Rik, SPS1
MMRRC Submission 038469-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.897) question?
Stock #R0220 (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: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,148,420 probably null Het
Abcc5 A G 16: 20,369,102 V863A probably benign Het
Anxa6 A C 11: 54,981,762 probably null Het
Armc10 A G 5: 21,661,584 K296R probably benign Het
Arpc2 T A 1: 74,248,134 F38I probably damaging Het
Ass1 A T 2: 31,514,819 N371Y probably damaging Het
Bcl6 T A 16: 23,966,219 H677L possibly damaging Het
Bcl7a G A 5: 123,351,919 V49I probably damaging Het
Ccnj T C 19: 40,844,810 L144P probably damaging Het
Cdh8 G T 8: 99,111,679 P510T probably benign Het
Cgnl1 C A 9: 71,724,943 K375N possibly damaging Het
Cubn C A 2: 13,356,709 R1695L probably damaging Het
Cyp3a59 G A 5: 146,098,270 V253I probably benign Het
Cyp4f13 A G 17: 32,929,502 I208T probably damaging Het
Dennd4a A C 9: 64,852,445 E277D probably damaging Het
Depdc1a G A 3: 159,523,905 V625I probably benign Het
Dot1l A T 10: 80,785,858 D448V probably damaging Het
Efhc1 A G 1: 20,967,358 D253G probably damaging Het
Eme1 T A 11: 94,650,258 E246V probably null Het
Foxred1 A G 9: 35,209,453 L128P probably damaging Het
Gm14124 A T 2: 150,268,675 Q428H unknown Het
Gm4787 G T 12: 81,378,648 S245R probably damaging Het
Gm5141 T A 13: 62,774,457 K299N probably damaging Het
Greb1 C A 12: 16,682,286 R1558L probably damaging Het
Ip6k3 A T 17: 27,145,229 F282I probably damaging Het
Kdm2a T C 19: 4,324,919 D288G possibly damaging Het
Kdm4d A T 9: 14,463,122 V480E probably benign Het
Kif26a A T 12: 112,157,390 Q143L probably damaging Het
Klhl41 G A 2: 69,670,485 D97N probably benign Het
Krt34 C T 11: 100,038,693 probably benign Het
Lcn11 A T 2: 25,777,831 H77L probably benign Het
Megf6 G A 4: 154,258,215 R529H probably damaging Het
Mipol1 A G 12: 57,457,150 E368G probably damaging Het
Mtus1 A T 8: 40,994,572 M442K probably damaging Het
Naca T C 10: 128,043,386 probably benign Het
Nbea G A 3: 56,005,303 T1021I probably benign Het
Nfib A T 4: 82,296,776 V530E probably damaging Het
Nptx1 A G 11: 119,544,641 V283A probably damaging Het
Olfr1261 G T 2: 89,993,862 L156F probably benign Het
Olfr190 A T 16: 59,074,732 M116K probably damaging Het
Opn5 A G 17: 42,596,604 V127A probably benign Het
Pcgf6 A G 19: 47,040,090 V291A probably benign Het
Pilrb2 C A 5: 137,871,197 R47L probably benign Het
Prom2 A C 2: 127,541,107 S72A probably benign Het
Sema3e T C 5: 14,164,153 F144S possibly damaging Het
Smarcc2 A T 10: 128,483,636 D798V probably benign Het
Taf5 T C 19: 47,080,560 S563P probably damaging Het
Topaz1 A G 9: 122,749,303 H426R possibly damaging Het
Tpgs1 T A 10: 79,675,437 C138S possibly damaging Het
Traf1 A T 2: 34,949,103 V70D probably benign Het
Ttn T C 2: 76,811,393 Y13453C probably damaging Het
Ubxn4 T A 1: 128,256,194 V97D possibly damaging Het
Ugt1a8 A T 1: 88,088,335 I157L probably benign Het
Vmn2r13 A T 5: 109,156,466 C700S probably damaging Het
Wee1 A T 7: 110,124,526 D216V probably benign Het
Zc3h4 T C 7: 16,429,273 Y533H unknown Het
Zfp81 A G 17: 33,336,724 I43T possibly damaging Het
Zfp963 A T 8: 69,743,493 Y103* probably null Het
Zfp963 A T 8: 69,743,495 Y103N probably benign Het
Zzef1 G T 11: 72,865,966 D1126Y 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
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
R8021:Sephs1 UTSW 2 4906623 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCCGAAGACAGAATGATAGGTCCC -3'
(R):5'- GTGTAGTCACCAGTCACGTTCTTCC -3'

Sequencing Primer
(F):5'- ATGCCCAGTCCTGGAAGATG -3'
(R):5'- AGTCACGTTCTTCCCCTGG -3'
Posted On2013-05-09