Incidental Mutation 'IGL01298:Btbd1'
ID73217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btbd1
Ensembl Gene ENSMUSG00000025103
Gene NameBTB (POZ) domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.303) question?
Stock #IGL01298
Quality Score
Status
Chromosome7
Chromosomal Location81792074-81829431 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 81794307 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026092] [ENSMUST00000026093] [ENSMUST00000152620]
Predicted Effect probably benign
Transcript: ENSMUST00000026092
SMART Domains Protein: ENSMUSP00000026092
Gene: ENSMUSG00000025102

DomainStartEndE-ValueType
DUF167 32 108 3.17e-28 SMART
Predicted Effect probably null
Transcript: ENSMUST00000026093
SMART Domains Protein: ENSMUSP00000026093
Gene: ENSMUSG00000025103

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: ENSMUST00000142557
Predicted Effect probably benign
Transcript: ENSMUST00000152620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208375
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a G T 10: 75,333,492 W263C probably damaging Het
Agtpbp1 G A 13: 59,504,226 H424Y possibly damaging Het
Angpt2 T G 8: 18,710,528 N186T probably benign Het
Ank2 A G 3: 126,959,720 V304A possibly damaging Het
Atg3 T C 16: 45,171,673 M88T possibly damaging Het
Baz1a G T 12: 54,954,809 P142Q probably damaging Het
Cacnb3 T C 15: 98,639,853 Y70H probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cyp7a1 A T 4: 6,275,517 W19R probably damaging Het
Dock10 T A 1: 80,531,245 I1610F probably damaging Het
Gm11444 C A 11: 85,848,094 D58Y unknown Het
Gm7168 A T 17: 13,949,858 T496S probably benign Het
Gpc5 A G 14: 115,399,188 S428G probably benign Het
Haus8 T C 8: 71,253,113 E309G probably damaging Het
Ice1 A G 13: 70,604,904 L1021P possibly damaging Het
Krtap14 A T 16: 88,825,727 H121Q probably benign Het
Nwd1 T C 8: 72,662,331 V170A probably benign Het
Olfr338 T A 2: 36,377,448 M224K probably benign Het
Olfr803 T C 10: 129,692,029 Y4C probably damaging Het
Olfr938 G A 9: 39,078,724 T7I possibly damaging Het
Pfpl T C 19: 12,428,673 M96T possibly damaging Het
Pramel5 A G 4: 144,271,162 probably benign Het
Proc T C 18: 32,123,552 N354S probably benign Het
Prss40 T G 1: 34,560,766 I47L probably benign Het
Tmprss7 T C 16: 45,664,175 R541G probably benign Het
Togaram2 T C 17: 71,716,513 V788A possibly damaging Het
Trbv19 T C 6: 41,178,904 Y70H probably damaging Het
Ttk C T 9: 83,865,142 S678L probably benign Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Other mutations in Btbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01476:Btbd1 APN 7 81801049 nonsense probably null
IGL02261:Btbd1 APN 7 81805759 missense probably damaging 0.98
R0164:Btbd1 UTSW 7 81801003 missense probably benign 0.28
R0164:Btbd1 UTSW 7 81801003 missense probably benign 0.28
R0600:Btbd1 UTSW 7 81816006 missense probably damaging 1.00
R1221:Btbd1 UTSW 7 81818257 missense possibly damaging 0.79
R2159:Btbd1 UTSW 7 81801056 missense possibly damaging 0.94
R3961:Btbd1 UTSW 7 81818335 nonsense probably null
R4769:Btbd1 UTSW 7 81805810 missense probably benign 0.04
R7159:Btbd1 UTSW 7 81818209 missense probably benign 0.44
R7331:Btbd1 UTSW 7 81815972 missense probably damaging 1.00
Posted On2013-10-07