Incidental Mutation 'N/A:Zbtb8b'
ID 30
Institutional Source Beutler Lab
Gene Symbol Zbtb8b
Ensembl Gene ENSMUSG00000048485
Gene Name zinc finger and BTB domain containing 8b
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.358) question?
Stock # N/A of strain 294
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 129319558-129334646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129326361 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Aspartic acid to Glycine at position 268 (D268G)
Ref Sequence ENSEMBL: ENSMUSP00000101661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053042] [ENSMUST00000106046]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053042
AA Change: D235G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058157
Gene: ENSMUSG00000048485
AA Change: D235G

DomainStartEndE-ValueType
BTB 24 122 1.89e-25 SMART
low complexity region 132 149 N/A INTRINSIC
ZnF_C2H2 331 353 1.12e-3 SMART
ZnF_C2H2 359 382 1.95e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106046
AA Change: D268G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101661
Gene: ENSMUSG00000048485
AA Change: D268G

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
BTB 57 155 1.89e-25 SMART
low complexity region 165 182 N/A INTRINSIC
ZnF_C2H2 364 386 1.12e-3 SMART
ZnF_C2H2 392 415 1.95e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132556
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 76.0%
Validation Efficiency 91% (106/116)
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016P04Rik T A 6: 13,415,772 (GRCm39) noncoding transcript Homo
Aif1 A G 17: 35,391,496 (GRCm39) L7S possibly damaging Homo
Ankrd26 T C 6: 118,506,535 (GRCm39) D646G probably benign Homo
Cacna1s A G 1: 136,001,247 (GRCm39) I233V probably benign Homo
Cfap92 A T 6: 87,667,773 (GRCm39) noncoding transcript Homo
Chchd4 T C 6: 91,442,187 (GRCm39) Y77C probably damaging Homo
Crocc G A 4: 140,749,057 (GRCm39) R1419C probably damaging Homo
Cyp4f39 A C 17: 32,687,655 (GRCm39) M74L probably benign Homo
Fgf9 C A 14: 58,327,421 (GRCm39) probably benign Homo
Gimap6 T C 6: 48,679,349 (GRCm39) D229G probably damaging Homo
Glp1r T C 17: 31,150,257 (GRCm39) F393S probably damaging Homo
Lrrc7 T G 3: 157,865,977 (GRCm39) I1255L probably benign Homo
Mtrr C A 13: 68,723,516 (GRCm39) probably benign Homo
Pde6b A T 5: 108,576,969 (GRCm39) probably benign Homo
Rbm19 A T 5: 120,282,162 (GRCm39) I840F probably damaging Homo
Serpina3c A C 12: 104,115,864 (GRCm39) S227A probably benign Homo
Spag17 G A 3: 99,889,570 (GRCm39) probably benign Homo
Spmip3 G A 1: 177,561,100 (GRCm39) R13H probably damaging Homo
Other mutations in Zbtb8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Zbtb8b APN 4 129,327,052 (GRCm39) missense probably damaging 0.96
IGL01989:Zbtb8b APN 4 129,326,181 (GRCm39) missense probably damaging 1.00
IGL03332:Zbtb8b APN 4 129,322,361 (GRCm39) missense probably damaging 1.00
PIT4131001:Zbtb8b UTSW 4 129,321,308 (GRCm39) makesense probably null
R0391:Zbtb8b UTSW 4 129,326,463 (GRCm39) missense probably damaging 1.00
R2389:Zbtb8b UTSW 4 129,327,066 (GRCm39) missense probably benign 0.25
R2392:Zbtb8b UTSW 4 129,326,982 (GRCm39) missense probably damaging 1.00
R2760:Zbtb8b UTSW 4 129,326,293 (GRCm39) missense probably benign 0.04
R5028:Zbtb8b UTSW 4 129,326,793 (GRCm39) missense probably damaging 1.00
R5572:Zbtb8b UTSW 4 129,322,334 (GRCm39) missense probably damaging 1.00
R6029:Zbtb8b UTSW 4 129,322,286 (GRCm39) missense probably damaging 1.00
R6671:Zbtb8b UTSW 4 129,321,577 (GRCm39) missense probably damaging 0.99
R6714:Zbtb8b UTSW 4 129,326,776 (GRCm39) missense probably damaging 1.00
R7039:Zbtb8b UTSW 4 129,321,478 (GRCm39) missense possibly damaging 0.48
R7392:Zbtb8b UTSW 4 129,326,683 (GRCm39) missense probably benign 0.01
R7454:Zbtb8b UTSW 4 129,326,562 (GRCm39) missense possibly damaging 0.75
R7634:Zbtb8b UTSW 4 129,326,755 (GRCm39) missense probably damaging 1.00
R8017:Zbtb8b UTSW 4 129,322,238 (GRCm39) missense probably damaging 1.00
R8444:Zbtb8b UTSW 4 129,326,424 (GRCm39) missense probably benign
R9366:Zbtb8b UTSW 4 129,326,151 (GRCm39) missense probably benign 0.01
R9417:Zbtb8b UTSW 4 129,326,517 (GRCm39) missense probably benign 0.00
R9467:Zbtb8b UTSW 4 129,326,319 (GRCm39) missense probably benign 0.41
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to G transition at position 789 of the Zbtb8b transcript, in exon 2 of 4 total exons. Two transcripts of Zbtb8b are displayed on Ensembl. The mutated nucleotide causes an aspartic acid to glycine substitution at amino acid 235 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
Zbtb8b encodes the 484 amino acid Zinc finger and BTB domain-containing protein 8B (ZBTB8B) with evidence at the transcript level. ZBTB8B is likely to be a transcription factor, and contains a BTB/POZ domain at amino acids 42-92 and two C2H2-type zinc fingers at residues 331-353 and 359-382. BTB/POZ domains mediate homodimeric and sometimes heterodimeric interactions. The zinc fingers likely bind to DNA (Uniprot Q8C110). 
 
The D235G change is predicted to be benign by the PolyPhen program.
Posted On 2009-11-12