Incidental Mutation 'IGL03107:Secisbp2'
ID 419047
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03107
Quality Score
Status
Chromosome 13
Chromosomal Location 51805733-51838080 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 51806793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040117] [ENSMUST00000075853] [ENSMUST00000110044]
AlphaFold Q3U1C4
Predicted Effect probably null
Transcript: ENSMUST00000040117
SMART Domains Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139

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: ENSMUST00000075853
SMART Domains Protein: ENSMUSP00000075250
Gene: ENSMUSG00000062248

DomainStartEndE-ValueType
CKS 5 74 2.41e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082738
Predicted Effect probably null
Transcript: ENSMUST00000110044
SMART Domains Protein: ENSMUSP00000105671
Gene: ENSMUSG00000035139

DomainStartEndE-ValueType
low complexity region 179 192 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154202
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q probably 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
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
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
Posted On 2016-08-02