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: 0.372)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
Coding Region Coverage |
|
Validation Efficiency |
91% (106/116) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |