Incidental Mutation 'IGL02645:Secisbp2'
ID301928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Secisbp2
Ensembl Gene ENSMUSG00000035139
Gene NameSECIS binding protein 2
SynonymsSBP2, 2210413N07Rik, 2810012K13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL02645
Quality Score
Status
Chromosome13
Chromosomal Location51651697-51684044 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 51682460 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 767 (M767K)
Ref Sequence ENSEMBL: ENSMUSP00000045740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040117] [ENSMUST00000110042]
Predicted Effect probably damaging
Transcript: ENSMUST00000040117
AA Change: M767K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: M767K

DomainStartEndE-ValueType
low complexity region 179 192 N/A INTRINSIC
low complexity region 375 389 N/A INTRINSIC
low complexity region 542 553 N/A INTRINSIC
Pfam:Ribosomal_L7Ae 662 764 4.4e-23 PFAM
low complexity region 793 809 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110042
SMART Domains Protein: ENSMUSP00000105669
Gene: ENSMUSG00000021451

DomainStartEndE-ValueType
Blast:IG 2 46 2e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153877
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in a similar gene in human have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality while heterozygotes exhibit reduced serum selenium levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik A G 4: 41,517,080 V28A probably damaging Het
Ang4 T C 14: 51,764,347 Y48C probably damaging Het
Aox2 T A 1: 58,334,724 M848K probably damaging Het
Apol7c A T 15: 77,528,883 S56T probably benign Het
Asic4 G A 1: 75,473,354 probably benign Het
Asxl1 A G 2: 153,392,857 K162R possibly damaging Het
BC053393 A G 11: 46,586,220 R167G probably benign Het
Car12 T A 9: 66,747,679 H130Q probably benign Het
Cars T C 7: 143,557,909 E737G probably damaging Het
Ccdc141 G A 2: 77,074,867 R412* probably null Het
Cd36 T C 5: 17,785,880 T421A probably benign Het
Clasp2 T G 9: 113,890,061 M758R probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ebf4 A G 2: 130,361,841 K471E probably damaging Het
Fat2 T A 11: 55,282,828 D2353V probably damaging Het
Gm10136 A G 19: 29,003,740 probably benign Het
Intu A G 3: 40,701,272 I930V probably benign Het
Ndrg2 T A 14: 51,906,522 M300L possibly damaging Het
Nhs A G X: 162,159,058 S111P probably benign Het
Nme8 T A 13: 19,660,585 L111F probably damaging Het
Nol8 T A 13: 49,665,471 probably null Het
Olfr1148 C T 2: 87,833,615 T192M probably benign Het
Olfr1221 T C 2: 89,111,619 R298G probably benign Het
Olfr1249 T C 2: 89,630,335 T188A probably benign Het
Olfr1511 T A 14: 52,390,501 T91S possibly damaging Het
Pcdhac2 G A 18: 37,145,239 G424D probably damaging Het
Pex3 T G 10: 13,546,429 E42D possibly damaging Het
Plxnb1 C T 9: 109,114,243 probably benign Het
Rpe65 T A 3: 159,606,491 I209N probably damaging Het
Rsl1 T A 13: 67,182,209 F240L probably benign Het
Rttn A T 18: 89,110,686 I1921F probably benign Het
Scn3a A T 2: 65,514,527 F539Y probably benign Het
Sipa1l3 C T 7: 29,328,980 probably null Het
Slfn8 T C 11: 83,003,554 N753S possibly damaging Het
Sympk T G 7: 19,052,424 V984G probably damaging Het
Tacr3 A T 3: 134,861,182 D272V possibly damaging Het
Tnpo3 G T 6: 29,562,900 S606* probably null Het
Zfp804a T C 2: 82,053,876 L29P possibly damaging Het
Zfp94 C T 7: 24,303,754 G88R probably benign Het
Other mutations in Secisbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Secisbp2 APN 13 51676455 critical splice donor site probably null
IGL01316:Secisbp2 APN 13 51654516 missense probably benign 0.06
IGL02576:Secisbp2 APN 13 51670858 missense possibly damaging 0.80
IGL02630:Secisbp2 APN 13 51678906 missense possibly damaging 0.63
IGL03107:Secisbp2 APN 13 51652757 critical splice donor site probably null
R0208:Secisbp2 UTSW 13 51679845 missense probably benign 0.26
R0453:Secisbp2 UTSW 13 51683325 missense possibly damaging 0.91
R1220:Secisbp2 UTSW 13 51656905 missense probably damaging 1.00
R1278:Secisbp2 UTSW 13 51654510 missense probably damaging 1.00
R1439:Secisbp2 UTSW 13 51679723 splice site probably benign
R1514:Secisbp2 UTSW 13 51682095 missense possibly damaging 0.83
R1568:Secisbp2 UTSW 13 51673107 missense possibly damaging 0.73
R1724:Secisbp2 UTSW 13 51670846 missense probably benign
R2851:Secisbp2 UTSW 13 51654635 splice site probably null
R2967:Secisbp2 UTSW 13 51670879 missense probably benign 0.00
R3156:Secisbp2 UTSW 13 51662675 missense probably benign 0.06
R4393:Secisbp2 UTSW 13 51654466 missense probably damaging 1.00
R4719:Secisbp2 UTSW 13 51652732 missense possibly damaging 0.96
R4953:Secisbp2 UTSW 13 51682027 missense probably damaging 1.00
R5183:Secisbp2 UTSW 13 51665424 missense probably benign 0.14
R5432:Secisbp2 UTSW 13 51673966 small deletion probably benign
R5696:Secisbp2 UTSW 13 51679821 missense probably damaging 1.00
R6007:Secisbp2 UTSW 13 51665359 missense probably damaging 0.99
R6066:Secisbp2 UTSW 13 51677222 missense probably benign 0.00
R6076:Secisbp2 UTSW 13 51679777 missense probably damaging 0.98
R6164:Secisbp2 UTSW 13 51679860 missense probably damaging 1.00
R6346:Secisbp2 UTSW 13 51679887 missense probably damaging 0.99
R6367:Secisbp2 UTSW 13 51682141 missense probably damaging 1.00
R6790:Secisbp2 UTSW 13 51670903 missense probably benign 0.09
R6888:Secisbp2 UTSW 13 51679941 missense probably benign 0.16
R7095:Secisbp2 UTSW 13 51677254 missense probably benign 0.01
R7104:Secisbp2 UTSW 13 51656907 nonsense probably null
R7261:Secisbp2 UTSW 13 51682462 missense probably damaging 1.00
R7717:Secisbp2 UTSW 13 51673098 missense probably benign 0.00
Posted On2015-04-16