Incidental Mutation 'IGL01694:Sephs2'
ID104203
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? Possibly essential (E-score: 0.734) question?
Stock #IGL01694
Quality Score
Status
Chromosome7
Chromosomal Location127271879-127274055 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127273087 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 278 (I278T)
Ref Sequence ENSEMBL: ENSMUSP00000081009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082428]
Predicted Effect probably benign
Transcript: ENSMUST00000082428
AA Change: I278T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000081009
Gene: ENSMUSG00000049091
AA Change: I278T

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 36,096,702 *219W probably null Het
Abi1 G A 2: 22,960,713 T238M probably damaging Het
Agbl2 C T 2: 90,801,074 L259F probably damaging Het
Cacna1g T A 11: 94,429,112 I1413F probably damaging Het
Ddx21 T A 10: 62,598,651 K110* probably null Het
Dnm1l A T 16: 16,316,651 I463N probably benign Het
Dst C A 1: 34,188,160 H1286Q probably benign Het
Elmo2 A T 2: 165,314,773 N67K probably benign Het
Eps8l3 G A 3: 107,892,308 C578Y probably damaging Het
Fam83b T A 9: 76,490,990 I944F probably benign Het
Itga10 A T 3: 96,652,517 D496V probably damaging Het
Lama2 T G 10: 27,006,742 K2608N possibly damaging Het
Lap3 T A 5: 45,498,595 probably null Het
Madd T C 2: 91,157,975 probably benign Het
Mdh1b T A 1: 63,711,106 probably benign Het
Ncapg2 G A 12: 116,407,230 probably benign Het
Olfr1509 A G 14: 52,450,584 N57S probably benign Het
Opalin A G 19: 41,063,800 probably benign Het
Plxna3 T A X: 74,338,508 D1291E probably damaging Het
Prss40 T A 1: 34,556,097 I101F probably benign Het
Rpl5 T C 5: 107,907,240 Y253H probably benign Het
Slc25a34 G A 4: 141,622,253 A197V probably benign Het
Slco6d1 C T 1: 98,499,845 R634W probably damaging Het
Smarca4 C A 9: 21,665,870 A871D probably damaging Het
Speer2 C T 16: 69,858,112 S155N probably damaging Het
Speer2 T A 16: 69,858,113 S155C probably damaging Het
Spink12 T A 18: 44,107,760 V71E probably damaging Het
Tecta T C 9: 42,367,179 D1011G possibly damaging Het
Tmtc4 G A 14: 122,973,212 T78I possibly damaging Het
Tub T C 7: 109,021,036 probably benign Het
Vps13c T A 9: 67,895,349 V644D probably damaging Het
Zfp7 C T 15: 76,890,795 Q346* probably null Het
Other mutations in Sephs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03006:Sephs2 APN 7 127273034 missense probably benign
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 On2014-01-21