Incidental Mutation 'R6888:Secisbp2'
ID 537068
Institutional Source Beutler Lab
Gene Symbol Secisbp2
Ensembl Gene ENSMUSG00000035139
Gene Name SECIS binding protein 2
Synonyms SBP2, 2810012K13Rik, 2210413N07Rik
MMRRC Submission 044982-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R6888 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 51805733-51838080 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51833977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 706 (T706A)
Ref Sequence ENSEMBL: ENSMUSP00000045740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040117]
AlphaFold Q3U1C4
Predicted Effect probably benign
Transcript: ENSMUST00000040117
AA Change: T706A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: T706A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg1 T C 11: 120,238,141 (GRCm39) Y190C probably damaging Het
Adgrv1 A G 13: 81,656,788 (GRCm39) I2902T probably damaging Het
AI429214 G A 8: 37,460,987 (GRCm39) G45D possibly damaging Het
Ambra1 A G 2: 91,599,372 (GRCm39) D164G probably damaging Het
Ap3b1 A T 13: 94,545,299 (GRCm39) Q184L probably benign Het
Arhgef17 T C 7: 100,580,027 (GRCm39) D307G possibly damaging Het
AY761185 A T 8: 21,434,571 (GRCm39) Y52* probably null Het
Bfsp1 A G 2: 143,668,639 (GRCm39) S647P probably benign Het
C130073F10Rik A G 4: 101,747,453 (GRCm39) V192A probably benign Het
Cacna1g T A 11: 94,350,033 (GRCm39) D604V probably benign Het
Ccdc170 T C 10: 4,496,854 (GRCm39) V458A possibly damaging Het
Ccdc187 G A 2: 26,179,746 (GRCm39) R238W probably damaging Het
Cdh1 A G 8: 107,384,946 (GRCm39) S380G probably benign Het
Cdk5rap3 T C 11: 96,807,018 (GRCm39) H4R probably benign Het
Cftr G A 6: 18,313,729 (GRCm39) probably null Het
Cstpp1 A G 2: 91,252,239 (GRCm39) Y41H probably damaging Het
Dnajc16 A G 4: 141,504,303 (GRCm39) V219A probably benign Het
Drd3 A T 16: 43,637,502 (GRCm39) I266F probably benign Het
Dut A G 2: 125,099,044 (GRCm39) D177G probably benign Het
Esr1 A G 10: 4,807,076 (GRCm39) I331V probably benign Het
Gm11110 A G 17: 57,409,143 (GRCm39) probably benign Het
Grm7 G T 6: 111,335,314 (GRCm39) G575V possibly damaging Het
Heatr3 A G 8: 88,897,512 (GRCm39) Y531C probably damaging Het
Igfn1 A G 1: 135,910,218 (GRCm39) V122A probably benign Het
Igsf21 T C 4: 139,762,054 (GRCm39) D208G probably benign Het
Kntc1 T C 5: 123,949,373 (GRCm39) Y1915H probably damaging Het
Lamc1 A T 1: 153,138,238 (GRCm39) D205E probably damaging Het
Limch1 C T 5: 67,179,269 (GRCm39) T713I probably benign Het
Lrp1b A G 2: 41,361,138 (GRCm39) I555T probably benign Het
Lrp2 A T 2: 69,354,485 (GRCm39) F448I probably damaging Het
Marchf6 T C 15: 31,459,379 (GRCm39) K896E probably benign Het
Mroh4 T C 15: 74,485,098 (GRCm39) Y469C possibly damaging Het
Niban3 G T 8: 72,056,383 (GRCm39) R361L probably benign Het
Nos3 T C 5: 24,588,333 (GRCm39) V1060A possibly damaging Het
Nr1h4 A G 10: 89,292,404 (GRCm39) I406T probably damaging Het
Odf2l T C 3: 144,854,379 (GRCm39) probably null Het
Or2y15 A T 11: 49,351,087 (GRCm39) T194S probably damaging Het
Or5d14 A G 2: 87,880,608 (GRCm39) M120T probably damaging Het
Pals2 T G 6: 50,157,257 (GRCm39) probably null Het
Pbx2 A G 17: 34,813,081 (GRCm39) Y119C possibly damaging Het
Pdcd6ip C A 9: 113,500,905 (GRCm39) A526S probably benign Het
Prx G A 7: 27,219,059 (GRCm39) D1187N possibly damaging Het
Ptpro G A 6: 137,357,198 (GRCm39) V230I probably benign Het
Rtn3 C T 19: 7,434,614 (GRCm39) M440I probably benign Het
Sar1b T C 11: 51,679,019 (GRCm39) I96T probably damaging Het
Sds T C 5: 120,618,965 (GRCm39) probably null Het
Sorcs3 A T 19: 48,682,263 (GRCm39) M433L possibly damaging Het
Sppl2a A G 2: 126,746,912 (GRCm39) V472A probably damaging Het
Tbc1d9 A G 8: 83,998,217 (GRCm39) E1258G possibly damaging Het
Tbxas1 C A 6: 38,929,008 (GRCm39) probably benign Het
Tg T C 15: 66,568,095 (GRCm39) I1333T probably damaging Het
Tmem108 C T 9: 103,376,915 (GRCm39) G178D probably damaging Het
Tmem174 A G 13: 98,773,569 (GRCm39) L87P probably damaging Het
Tmppe T A 9: 114,233,769 (GRCm39) S23T probably damaging Het
Ttn G A 2: 76,591,447 (GRCm39) T21074I probably benign Het
Tub A G 7: 108,628,505 (GRCm39) M338V probably null Het
Vmn1r160 A T 7: 22,571,531 (GRCm39) R295* probably null Het
Vps52 T C 17: 34,182,180 (GRCm39) V518A probably benign Het
Wdr59 A G 8: 112,177,675 (GRCm39) V909A probably benign Het
Wnk1 T C 6: 119,925,742 (GRCm39) T1241A probably benign Het
Zfp882 G A 8: 72,668,130 (GRCm39) C319Y probably benign Het
Znfx1 A T 2: 166,880,860 (GRCm39) I308N 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
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
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'- AGTAGATGCTTGTGTCACGG -3'
(R):5'- TACTACAGCTTACGGCAGGC -3'

Sequencing Primer
(F):5'- TGTCACGGGTCTGCTCAAG -3'
(R):5'- CTACCCTGTCATCAGAGGAAGAG -3'
Posted On 2018-10-18