Incidental Mutation 'IGL02261:Btbd1'
ID 286765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btbd1
Ensembl Gene ENSMUSG00000025103
Gene Name BTB domain containing 1
Synonyms 1190005H08Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.273) question?
Stock # IGL02261
Quality Score
Status
Chromosome 7
Chromosomal Location 81441822-81479179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81455507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 288 (I288N)
Ref Sequence ENSEMBL: ENSMUSP00000026093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026093]
AlphaFold P58544
Predicted Effect probably damaging
Transcript: ENSMUST00000026093
AA Change: I288N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026093
Gene: ENSMUSG00000025103
AA Change: I288N

DomainStartEndE-ValueType
low complexity region 5 45 N/A INTRINSIC
BTB 75 181 2.73e-22 SMART
BACK 186 294 8.02e-10 SMART
Pfam:PHR 339 487 2.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208566
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,604,807 (GRCm39) V27M probably damaging Het
Ank1 A G 8: 23,578,015 (GRCm39) N222D probably damaging Het
Bcas3 A T 11: 85,422,756 (GRCm39) T542S probably damaging Het
Ctps1 C T 4: 120,399,776 (GRCm39) V500I possibly damaging Het
Cul5 A C 9: 53,546,337 (GRCm39) V345G probably damaging Het
Dchs1 A G 7: 105,421,776 (GRCm39) Y215H probably damaging Het
Dmxl1 T A 18: 49,973,566 (GRCm39) M67K possibly damaging Het
Egln2 C T 7: 26,859,291 (GRCm39) E353K possibly damaging Het
Fbxw5 G T 2: 25,393,746 (GRCm39) A325S probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gaa A G 11: 119,172,091 (GRCm39) *207W probably null Het
Herc2 A G 7: 55,856,492 (GRCm39) T3947A probably damaging Het
Ifit2 T A 19: 34,551,624 (GRCm39) I388N probably damaging Het
Ikzf4 T C 10: 128,472,591 (GRCm39) T209A possibly damaging Het
Il17re A T 6: 113,445,472 (GRCm39) probably benign Het
Insrr T A 3: 87,708,029 (GRCm39) L157Q probably damaging Het
Kcnq2 T G 2: 180,723,483 (GRCm39) Y631S probably damaging Het
Lrrfip1 A G 1: 91,039,890 (GRCm39) I198V probably benign Het
Mir7684 A T 15: 82,273,345 (GRCm39) probably benign Het
Mphosph9 C T 5: 124,398,150 (GRCm39) E1049K probably damaging Het
Mroh1 G A 15: 76,313,360 (GRCm39) R611Q probably benign Het
Mynn A T 3: 30,661,280 (GRCm39) I121F possibly damaging Het
Ndrg2 G A 14: 52,148,566 (GRCm39) R32C probably damaging Het
Or2ab1 T C 11: 58,488,630 (GRCm39) I138T probably benign Het
Or4p7 A G 2: 88,221,725 (GRCm39) I45V probably benign Het
Ppp1r9b A G 11: 94,892,936 (GRCm39) E260G probably damaging Het
Psd4 A G 2: 24,291,756 (GRCm39) S652G probably damaging Het
Psg25 C T 7: 18,255,268 (GRCm39) R416H probably benign Het
Pygm T A 19: 6,438,301 (GRCm39) N171K probably damaging Het
Rbm46 A T 3: 82,771,723 (GRCm39) D297E possibly damaging Het
Selenov T A 7: 27,990,004 (GRCm39) T167S probably benign Het
Serpina10 T C 12: 103,583,208 (GRCm39) Y358C probably damaging Het
Slc27a3 T C 3: 90,295,002 (GRCm39) R352G probably benign Het
Snx33 T C 9: 56,833,862 (GRCm39) D69G probably benign Het
St8sia2 G T 7: 73,616,594 (GRCm39) P127H probably damaging Het
Thbd T C 2: 148,248,401 (GRCm39) K489R probably benign Het
Ttn A T 2: 76,767,049 (GRCm39) C3039S probably damaging Het
Vmn1r167 T C 7: 23,204,261 (GRCm39) M252V probably benign Het
Xdh A G 17: 74,220,960 (GRCm39) S590P possibly damaging Het
Zfp827 G A 8: 79,906,708 (GRCm39) V907I probably damaging Het
Other mutations in Btbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01298:Btbd1 APN 7 81,444,055 (GRCm39) splice site probably null
IGL01476:Btbd1 APN 7 81,450,797 (GRCm39) nonsense probably null
R0164:Btbd1 UTSW 7 81,450,751 (GRCm39) missense probably benign 0.28
R0164:Btbd1 UTSW 7 81,450,751 (GRCm39) missense probably benign 0.28
R0600:Btbd1 UTSW 7 81,465,754 (GRCm39) missense probably damaging 1.00
R1221:Btbd1 UTSW 7 81,468,005 (GRCm39) missense possibly damaging 0.79
R2159:Btbd1 UTSW 7 81,450,804 (GRCm39) missense possibly damaging 0.94
R3961:Btbd1 UTSW 7 81,468,083 (GRCm39) nonsense probably null
R4769:Btbd1 UTSW 7 81,455,558 (GRCm39) missense probably benign 0.04
R7159:Btbd1 UTSW 7 81,467,957 (GRCm39) missense probably benign 0.44
R7331:Btbd1 UTSW 7 81,465,720 (GRCm39) missense probably damaging 1.00
R9197:Btbd1 UTSW 7 81,443,363 (GRCm39) missense probably damaging 1.00
R9310:Btbd1 UTSW 7 81,478,985 (GRCm39) missense probably damaging 1.00
R9522:Btbd1 UTSW 7 81,479,081 (GRCm39) missense unknown
R9686:Btbd1 UTSW 7 81,455,598 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16