Incidental Mutation 'IGL03006:Sephs2'
ID407552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sephs2
Ensembl Gene ENSMUSG00000049091
Gene Nameselenophosphate synthetase 2
SynonymsSps2, Ysg3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.751) question?
Stock #IGL03006
Quality Score
Status
Chromosome7
Chromosomal Location127271879-127274055 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127273034 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 296 (F296L)
Ref Sequence ENSEMBL: ENSMUSP00000081009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082428]
Predicted Effect probably benign
Transcript: ENSMUST00000082428
AA Change: F296L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081009
Gene: ENSMUSG00000049091
AA Change: F296L

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,827,845 S21C probably damaging Het
1700037H04Rik A C 2: 131,151,714 D22E probably damaging Het
2210408I21Rik T C 13: 77,323,772 probably null Het
Abcc3 T C 11: 94,368,595 D340G probably benign Het
Adamts17 G T 7: 67,078,347 R879L possibly damaging Het
Cacna1f C A X: 7,626,903 T1275K probably damaging Het
Csmd2 T A 4: 128,480,765 probably benign Het
Dll1 C T 17: 15,373,592 R171Q probably benign Het
Dnm1 T A 2: 32,353,121 D30V possibly damaging Het
Fam184a G A 10: 53,698,697 S216L probably damaging Het
Fbxo33 G A 12: 59,204,319 A470V probably benign Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Ighv7-1 A T 12: 113,896,525 S82R probably damaging Het
Klk1b4 A G 7: 44,211,595 I221V probably benign Het
Lama3 T C 18: 12,468,368 probably benign Het
Lrch1 A G 14: 74,813,620 L359P probably damaging Het
Mapk8ip3 T C 17: 24,901,515 T882A probably benign Het
Med12 C T X: 101,278,078 R456W probably damaging Het
Mms22l T C 4: 24,521,253 S267P probably damaging Het
Mtpap G A 18: 4,375,721 G34R possibly damaging Het
Nf1 G A 11: 79,545,431 D1966N probably damaging Het
Nlrp9c G A 7: 26,372,082 T867I probably damaging Het
Nrap C T 19: 56,347,164 V941I probably benign Het
Olfr172 T A 16: 58,761,148 K9N probably benign Het
Pcdh10 A G 3: 45,379,502 I84V probably damaging Het
Polr3d T A 14: 70,441,163 probably null Het
Prkar2a G T 9: 108,740,441 V233L probably benign Het
Prl4a1 T C 13: 28,023,376 V211A probably damaging Het
Qpct T C 17: 79,070,722 V107A probably benign Het
Rai1 T C 11: 60,188,205 S1032P possibly damaging Het
Rims1 G T 1: 22,296,954 T1113K probably damaging Het
Rxra C T 2: 27,759,645 T454I probably damaging Het
S100z T C 13: 95,478,619 I13V probably damaging Het
Scp2 T C 4: 108,091,280 K167E probably benign Het
Setd1b A G 5: 123,148,451 E520G unknown Het
Slc28a2 G A 2: 122,452,538 V308M possibly damaging Het
Smarcad1 T A 6: 65,083,889 I451K probably benign Het
Tarbp1 C T 8: 126,444,142 D1040N probably damaging Het
Tdrd6 T C 17: 43,625,432 D1575G probably damaging Het
Tll1 T A 8: 64,074,217 probably benign Het
Tsks A T 7: 44,950,774 probably benign Het
Ttc1 A T 11: 43,745,320 M32K probably benign Het
Txlnb C T 10: 17,838,975 A385V probably damaging Het
Zc4h2 T C X: 95,643,413 H98R probably damaging Het
Other mutations in Sephs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01694:Sephs2 APN 7 127273087 missense probably benign 0.43
IGL03295:Sephs2 APN 7 127272769 missense possibly damaging 0.60
R1381:Sephs2 UTSW 7 127272967 missense probably damaging 1.00
R2259:Sephs2 UTSW 7 127273477 missense possibly damaging 0.80
R4876:Sephs2 UTSW 7 127273047 nonsense probably null
R5054:Sephs2 UTSW 7 127273392 missense probably benign 0.05
R5432:Sephs2 UTSW 7 127273805 missense probably damaging 1.00
R6197:Sephs2 UTSW 7 127272901 missense probably damaging 1.00
R6237:Sephs2 UTSW 7 127273946 start gained probably benign
R7138:Sephs2 UTSW 7 127273015 missense possibly damaging 0.96
R7181:Sephs2 UTSW 7 127273820 missense probably benign
R7601:Sephs2 UTSW 7 127272946 missense probably damaging 1.00
R7685:Sephs2 UTSW 7 127273334 missense possibly damaging 0.46
X0061:Sephs2 UTSW 7 127273555 missense probably benign 0.35
Posted On2016-08-02