Incidental Mutation 'R5696:Secisbp2'
ID 450696
Institutional Source Beutler Lab
Gene Symbol Secisbp2
Ensembl Gene ENSMUSG00000035139
Gene Name SECIS binding protein 2
Synonyms SBP2, 2810012K13Rik, 2210413N07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 51805733-51838080 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 51833857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 666 (Q666K)
Ref Sequence ENSEMBL: ENSMUSP00000045740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040117]
AlphaFold Q3U1C4
Predicted Effect probably damaging
Transcript: ENSMUST00000040117
AA Change: Q666K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: Q666K

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 noncoding transcript
Transcript: ENSMUST00000146011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153877
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Capn2 T C 1: 182,306,165 (GRCm39) E527G possibly damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Ccnh T A 13: 85,344,446 (GRCm39) probably null Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dag1 A T 9: 108,086,646 (GRCm39) V165E probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Grb10 T A 11: 11,883,566 (GRCm39) N508I probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nlrp9b A T 7: 19,758,417 (GRCm39) R551S probably benign Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Qrich2 T C 11: 116,335,828 (GRCm39) I2114V probably damaging Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Rp1l1 A G 14: 64,267,195 (GRCm39) D927G probably damaging Het
Slc45a2 T C 15: 11,001,219 (GRCm39) I106T probably damaging Het
Slx4 G T 16: 3,797,831 (GRCm39) Q1518K probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tarbp1 A C 8: 127,174,079 (GRCm39) M909R probably damaging Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging Het
Other mutations in Secisbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Secisbp2 APN 13 51,830,491 (GRCm39) critical splice donor site probably null
IGL01316:Secisbp2 APN 13 51,808,552 (GRCm39) missense probably benign 0.06
IGL02576:Secisbp2 APN 13 51,824,894 (GRCm39) missense possibly damaging 0.80
IGL02630:Secisbp2 APN 13 51,832,942 (GRCm39) missense possibly damaging 0.63
IGL02645:Secisbp2 APN 13 51,836,496 (GRCm39) missense probably damaging 1.00
IGL03107:Secisbp2 APN 13 51,806,793 (GRCm39) critical splice donor site probably null
R0208:Secisbp2 UTSW 13 51,833,881 (GRCm39) missense probably benign 0.26
R0453:Secisbp2 UTSW 13 51,837,361 (GRCm39) missense possibly damaging 0.91
R1220:Secisbp2 UTSW 13 51,810,941 (GRCm39) missense probably damaging 1.00
R1278:Secisbp2 UTSW 13 51,808,546 (GRCm39) missense probably damaging 1.00
R1439:Secisbp2 UTSW 13 51,833,759 (GRCm39) splice site probably benign
R1514:Secisbp2 UTSW 13 51,836,131 (GRCm39) missense possibly damaging 0.83
R1568:Secisbp2 UTSW 13 51,827,143 (GRCm39) missense possibly damaging 0.73
R1724:Secisbp2 UTSW 13 51,824,882 (GRCm39) missense probably benign
R2851:Secisbp2 UTSW 13 51,808,671 (GRCm39) splice site probably null
R2967:Secisbp2 UTSW 13 51,824,915 (GRCm39) missense probably benign 0.00
R3156:Secisbp2 UTSW 13 51,816,711 (GRCm39) missense probably benign 0.06
R4393:Secisbp2 UTSW 13 51,808,502 (GRCm39) missense probably damaging 1.00
R4719:Secisbp2 UTSW 13 51,806,768 (GRCm39) missense possibly damaging 0.96
R4953:Secisbp2 UTSW 13 51,836,063 (GRCm39) missense probably damaging 1.00
R5183:Secisbp2 UTSW 13 51,819,460 (GRCm39) missense probably benign 0.14
R5432:Secisbp2 UTSW 13 51,828,002 (GRCm39) small deletion probably benign
R6007:Secisbp2 UTSW 13 51,819,395 (GRCm39) missense probably damaging 0.99
R6066:Secisbp2 UTSW 13 51,831,258 (GRCm39) missense probably benign 0.00
R6076:Secisbp2 UTSW 13 51,833,813 (GRCm39) missense probably damaging 0.98
R6164:Secisbp2 UTSW 13 51,833,896 (GRCm39) missense probably damaging 1.00
R6346:Secisbp2 UTSW 13 51,833,923 (GRCm39) missense probably damaging 0.99
R6367:Secisbp2 UTSW 13 51,836,177 (GRCm39) missense probably damaging 1.00
R6790:Secisbp2 UTSW 13 51,824,939 (GRCm39) missense probably benign 0.09
R6888:Secisbp2 UTSW 13 51,833,977 (GRCm39) missense probably benign 0.16
R7095:Secisbp2 UTSW 13 51,831,290 (GRCm39) missense probably benign 0.01
R7104:Secisbp2 UTSW 13 51,810,943 (GRCm39) nonsense probably null
R7261:Secisbp2 UTSW 13 51,836,498 (GRCm39) missense probably damaging 1.00
R7717:Secisbp2 UTSW 13 51,827,134 (GRCm39) missense probably benign 0.00
R7986:Secisbp2 UTSW 13 51,819,395 (GRCm39) missense probably damaging 0.99
R8021:Secisbp2 UTSW 13 51,819,664 (GRCm39) makesense probably null
R8496:Secisbp2 UTSW 13 51,819,383 (GRCm39) missense probably damaging 1.00
R8755:Secisbp2 UTSW 13 51,833,869 (GRCm39) missense possibly damaging 0.92
R8757:Secisbp2 UTSW 13 51,833,869 (GRCm39) missense possibly damaging 0.92
R8758:Secisbp2 UTSW 13 51,833,869 (GRCm39) missense possibly damaging 0.92
R8759:Secisbp2 UTSW 13 51,833,869 (GRCm39) missense possibly damaging 0.92
R8833:Secisbp2 UTSW 13 51,819,352 (GRCm39) missense probably benign 0.01
R8878:Secisbp2 UTSW 13 51,837,404 (GRCm39) missense probably benign 0.13
R9153:Secisbp2 UTSW 13 51,833,855 (GRCm39) missense possibly damaging 0.92
R9295:Secisbp2 UTSW 13 51,808,483 (GRCm39) missense probably damaging 1.00
R9528:Secisbp2 UTSW 13 51,810,979 (GRCm39) missense possibly damaging 0.57
R9562:Secisbp2 UTSW 13 51,837,320 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CATTCCTTCCTGTGGTGGAG -3'
(R):5'- TGAAACTGAAAGCAAGCTGCC -3'

Sequencing Primer
(F):5'- AGGGAGTTGCATGGTCCTGC -3'
(R):5'- AGCAAGCTGCCAAGGTGC -3'
Posted On 2017-01-03