Incidental Mutation 'R1514:Secisbp2'
ID 168643
Institutional Source Beutler Lab
Gene Symbol Secisbp2
Ensembl Gene ENSMUSG00000035139
Gene Name SECIS binding protein 2
Synonyms SBP2, 2810012K13Rik, 2210413N07Rik
MMRRC Submission 039561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R1514 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 51805733-51838080 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51836131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 742 (S742G)
Ref Sequence ENSEMBL: ENSMUSP00000045740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040117] [ENSMUST00000110042]
AlphaFold Q3U1C4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040117
AA Change: S742G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: S742G

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
Meta Mutation Damage Score 0.3998 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,448,729 (GRCm39) L147Q probably damaging Het
Aadacl4fm5 T C 4: 144,504,329 (GRCm39) N274S probably damaging Het
Abcb1a A G 5: 8,724,791 (GRCm39) T75A possibly damaging Het
Acvr1 A T 2: 58,337,597 (GRCm39) L495* probably null Het
Add1 T C 5: 34,767,961 (GRCm39) I240T probably benign Het
Adgra2 C A 8: 27,611,306 (GRCm39) S870* probably null Het
Amer3 G A 1: 34,618,408 (GRCm39) probably benign Het
Baz2b A T 2: 59,792,670 (GRCm39) V486D probably benign Het
Bcorl1 T A X: 47,494,821 (GRCm39) D1697E probably damaging Het
Cenpf T C 1: 189,411,338 (GRCm39) D282G possibly damaging Het
Cep112 A G 11: 108,362,880 (GRCm39) D200G probably damaging Het
Clec4a4 C T 6: 122,967,401 (GRCm39) P26S probably benign Het
Crygf A C 1: 65,967,197 (GRCm39) R102S possibly damaging Het
Cyp2b19 A T 7: 26,466,585 (GRCm39) E404D probably benign Het
Dcdc2a A G 13: 25,245,237 (GRCm39) I105V probably benign Het
Dus4l T C 12: 31,690,938 (GRCm39) M238V probably damaging Het
Eprs1 G A 1: 185,114,031 (GRCm39) M326I probably damaging Het
Evpl T C 11: 116,114,661 (GRCm39) T1010A probably benign Het
Fam124b T C 1: 80,178,148 (GRCm39) T284A possibly damaging Het
Glb1l2 A G 9: 26,680,420 (GRCm39) probably benign Het
Gm16223 T A 5: 42,225,298 (GRCm39) probably null Het
Gm4952 T A 19: 12,604,278 (GRCm39) M230K probably damaging Het
Gm5828 C A 1: 16,839,583 (GRCm39) noncoding transcript Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifna16 T A 4: 88,594,979 (GRCm39) T39S possibly damaging Het
Kcnc3 G A 7: 44,245,027 (GRCm39) G439D probably damaging Het
Kif1c T C 11: 70,596,555 (GRCm39) S257P probably damaging Het
Kng1 A G 16: 22,898,510 (GRCm39) K456E probably damaging Het
Lpxn T C 19: 12,801,414 (GRCm39) L142P probably damaging Het
Lratd1 C T 12: 14,199,864 (GRCm39) V288M probably damaging Het
Med23 A G 10: 24,768,565 (GRCm39) probably benign Het
Mks1 A T 11: 87,751,937 (GRCm39) D369V probably benign Het
Myo1d A T 11: 80,576,734 (GRCm39) Y114N probably damaging Het
Npas2 A G 1: 39,350,935 (GRCm39) D126G possibly damaging Het
Oga A G 19: 45,765,370 (GRCm39) S146P probably damaging Het
Onecut2 T C 18: 64,474,651 (GRCm39) F401L possibly damaging Het
Or10n1 T C 9: 39,524,992 (GRCm39) I43T probably damaging Het
Or10v1 A G 19: 11,873,978 (GRCm39) T198A probably benign Het
Or4f61 T C 2: 111,922,381 (GRCm39) I222V probably benign Het
Parp11 T A 6: 127,451,256 (GRCm39) F102Y possibly damaging Het
Pcnx1 C T 12: 81,965,572 (GRCm39) H580Y probably damaging Het
Pde3b A G 7: 114,130,001 (GRCm39) H852R probably damaging Het
Pira1 G A 7: 3,742,639 (GRCm39) T23I possibly damaging Het
Pou2af1 A G 9: 51,144,508 (GRCm39) T141A probably benign Het
Rgs22 A C 15: 36,013,246 (GRCm39) V1190G probably benign Het
Rnf112 T C 11: 61,341,236 (GRCm39) S450G probably benign Het
Rpgrip1l A T 8: 91,987,378 (GRCm39) I893N probably damaging Het
Rps3a1 A G 3: 86,045,834 (GRCm39) V210A probably benign Het
Runx2 C T 17: 45,046,224 (GRCm39) A114T possibly damaging Het
Sardh A G 2: 27,087,702 (GRCm39) V723A possibly damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Selenow G T 7: 15,654,223 (GRCm39) probably benign Het
Slc30a4 A G 2: 122,531,334 (GRCm39) V226A probably damaging Het
Sntb2 A G 8: 107,718,164 (GRCm39) N291D probably damaging Het
Sorbs2 A G 8: 46,222,866 (GRCm39) T190A probably damaging Het
Spata31e5 T A 1: 28,817,829 (GRCm39) T68S possibly damaging Het
Specc1 T A 11: 62,047,358 (GRCm39) L909H probably damaging Het
Sprr1b T C 3: 92,344,414 (GRCm39) *154W probably null Het
Taar4 T A 10: 23,836,510 (GRCm39) M40K possibly damaging Het
Ubr2 A T 17: 47,311,749 (GRCm39) L34H probably damaging Het
Ubxn6 T C 17: 56,376,003 (GRCm39) K386R probably benign Het
Vmn2r112 A T 17: 22,821,825 (GRCm39) T168S probably benign Het
Xirp2 A T 2: 67,344,667 (GRCm39) R2303* probably null Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp13 G T 17: 23,795,386 (GRCm39) T395K probably damaging Het
Zfp281 A G 1: 136,554,435 (GRCm39) N471S probably benign 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
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
R5696:Secisbp2 UTSW 13 51,833,857 (GRCm39) missense probably damaging 1.00
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'- ACAGTGGGTGCAGTCTACCTTAGAG -3'
(R):5'- GCCAGATGAGGAGCCTGATCAAATG -3'

Sequencing Primer
(F):5'- GGTGCAGTCTACCTTAGAGAATTG -3'
(R):5'- GGTGCCTCTCTATTGGCAATAAAC -3'
Posted On 2014-04-13