Incidental Mutation 'R6671:Zbtb8b'
| ID |
527129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb8b
|
| Ensembl Gene |
ENSMUSG00000048485 |
| Gene Name |
zinc finger and BTB domain containing 8b |
| Synonyms |
|
| MMRRC Submission |
044791-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.358)
|
| Stock # |
R6671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
129319558-129334646 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 129321577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 395
(R395Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053042]
[ENSMUST00000106046]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053042
AA Change: R395Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058157
Gene: ENSMUSG00000048485
AA Change: R395Q
| 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 |
possibly damaging
Transcript: ENSMUST00000106046
AA Change: R428Q
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101661
Gene: ENSMUSG00000048485
AA Change: R428Q
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
T |
C |
6: 131,528,313 (GRCm39) |
|
probably null |
Het |
| Abce1 |
A |
G |
8: 80,415,806 (GRCm39) |
V404A |
probably benign |
Het |
| Cpd |
T |
A |
11: 76,686,359 (GRCm39) |
I990F |
probably damaging |
Het |
| Ddhd1 |
CA |
C |
14: 45,894,689 (GRCm39) |
|
probably null |
Het |
| Dnajb6 |
A |
G |
5: 29,953,418 (GRCm39) |
E17G |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,646,607 (GRCm39) |
D308G |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,662 (GRCm39) |
Y69H |
probably damaging |
Het |
| Gldn |
T |
C |
9: 54,245,691 (GRCm39) |
L414P |
probably damaging |
Het |
| Glmn |
T |
A |
5: 107,697,280 (GRCm39) |
M487L |
probably benign |
Het |
| Gm3404 |
C |
A |
5: 146,464,487 (GRCm39) |
R163S |
probably benign |
Het |
| Gm5591 |
T |
G |
7: 38,219,523 (GRCm39) |
D450A |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,941,715 (GRCm39) |
T575A |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,950 (GRCm39) |
V4819D |
probably damaging |
Het |
| Ikbip |
A |
G |
10: 90,932,469 (GRCm39) |
|
probably null |
Het |
| Mertk |
G |
T |
2: 128,593,943 (GRCm39) |
|
probably null |
Het |
| Mfsd1 |
T |
C |
3: 67,492,995 (GRCm39) |
V93A |
possibly damaging |
Het |
| Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,299,333 (GRCm39) |
N269Y |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,926,420 (GRCm39) |
|
probably benign |
Het |
| Otof |
A |
G |
5: 30,576,877 (GRCm39) |
V125A |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,763,382 (GRCm39) |
I93T |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,525,154 (GRCm39) |
I484T |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,410,985 (GRCm39) |
I170N |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,434,706 (GRCm39) |
M904K |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,427,272 (GRCm39) |
K399M |
probably damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,254,529 (GRCm39) |
T432M |
probably damaging |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Vps53 |
A |
G |
11: 76,025,332 (GRCm39) |
Y171H |
probably damaging |
Het |
| Zfp81 |
A |
T |
17: 33,554,413 (GRCm39) |
C134S |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,573,042 (GRCm39) |
D403G |
probably damaging |
Het |
|
| 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 |
|
N/A:Zbtb8b
|
UTSW |
4 |
129,326,361 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGCCAGTCATCTGTGTC -3'
(R):5'- AGCAGACTGTGAGTTTCTTCC -3'
Sequencing Primer
(F):5'- CACTCTTCTCGTGGCTTTCAGATG -3'
(R):5'- GACGTAGAGTAAGCTGTATCCCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation