Incidental Mutation 'R7914:Bcl6'
| ID |
647974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl6
|
| Ensembl Gene |
ENSMUSG00000022508 |
| Gene Name |
B cell leukemia/lymphoma 6 |
| Synonyms |
Bcl5 |
| MMRRC Submission |
045962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R7914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
23783802-23807602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23788761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 536
(R536G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023151]
|
| AlphaFold |
P41183 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023151
AA Change: R536G
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
AA Change: R536G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
129 |
4.86e-28 |
SMART |
|
low complexity region
|
406 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
467 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
519 |
542 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
547 |
569 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
575 |
597 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
603 |
625 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
631 |
653 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
659 |
682 |
4.11e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mutants develop myocarditis and pulmonary vasculitis, show impaired germinal center formation in the spleen, and display T helper 2 cell hyperimmune responsiveness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
G |
T |
10: 100,428,538 (GRCm39) |
V12F |
probably benign |
Het |
| Adnp2 |
T |
A |
18: 80,174,056 (GRCm39) |
R118W |
probably damaging |
Het |
| Apaf1 |
G |
A |
10: 90,896,095 (GRCm39) |
R337C |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,225,032 (GRCm39) |
L59P |
probably damaging |
Het |
| B020011L13Rik |
A |
G |
1: 117,729,162 (GRCm39) |
E223G |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,000,432 (GRCm39) |
N1204Y |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,894,851 (GRCm39) |
E582G |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,419,306 (GRCm39) |
N942S |
probably damaging |
Het |
| Ccdc81 |
A |
C |
7: 89,524,988 (GRCm39) |
M531R |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,953,672 (GRCm39) |
E283G |
probably benign |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
C |
A |
18: 36,828,605 (GRCm39) |
R24S |
possibly damaging |
Het |
| Epb41l1 |
T |
A |
2: 156,364,128 (GRCm39) |
M879K |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,065,760 (GRCm39) |
Y1226C |
probably damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,320,031 (GRCm39) |
E151G |
|
Het |
| Herc6 |
A |
G |
6: 57,584,106 (GRCm39) |
T322A |
probably benign |
Het |
| Inka1 |
T |
C |
9: 107,862,761 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,849,122 (GRCm39) |
Q2110L |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,526,537 (GRCm39) |
H340L |
probably damaging |
Het |
| Mkks |
A |
T |
2: 136,722,876 (GRCm39) |
F94I |
probably damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,013 (GRCm39) |
F155L |
probably benign |
Het |
| Pdlim1 |
T |
A |
19: 40,240,445 (GRCm39) |
I53F |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,316,421 (GRCm39) |
L26Q |
probably benign |
Het |
| Rasa4 |
T |
A |
5: 136,130,510 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
A |
G |
5: 21,110,896 (GRCm39) |
S481P |
probably damaging |
Het |
| Sae1 |
C |
A |
7: 16,121,648 (GRCm39) |
G10C |
unknown |
Het |
| Samd15 |
T |
C |
12: 87,248,559 (GRCm39) |
S415P |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,530,294 (GRCm39) |
I684F |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,406,565 (GRCm39) |
M120K |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,947,499 (GRCm39) |
M821K |
possibly damaging |
Het |
| Suv39h2 |
G |
A |
2: 3,465,453 (GRCm39) |
R301* |
probably null |
Het |
| Tgfbi |
A |
G |
13: 56,777,502 (GRCm39) |
T329A |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,183,111 (GRCm39) |
F151S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,747,525 (GRCm39) |
D4508G |
probably benign |
Het |
| Tyk2 |
C |
A |
9: 21,032,851 (GRCm39) |
C304F |
probably benign |
Het |
| Vmn1r121 |
T |
A |
7: 20,831,589 (GRCm39) |
T284S |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,100 (GRCm39) |
I708T |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,041,526 (GRCm39) |
D396E |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,239,062 (GRCm39) |
|
probably null |
Het |
| Zic4 |
T |
G |
9: 91,266,181 (GRCm39) |
V275G |
probably damaging |
Het |
|
| Other mutations in Bcl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02220:Bcl6
|
APN |
16 |
23,793,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02505:Bcl6
|
APN |
16 |
23,796,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03052:Bcl6
|
APN |
16 |
23,793,788 (GRCm39) |
splice site |
probably benign |
|
|
IGL03271:Bcl6
|
APN |
16 |
23,788,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
Adriatic
|
UTSW |
16 |
23,786,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Catanzaro
|
UTSW |
16 |
23,784,976 (GRCm39) |
nonsense |
probably null |
|
|
Density
|
UTSW |
16 |
23,788,798 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
nouvelle
|
UTSW |
16 |
23,788,736 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0220:Bcl6
|
UTSW |
16 |
23,784,969 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0401:Bcl6
|
UTSW |
16 |
23,791,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0734:Bcl6
|
UTSW |
16 |
23,786,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1105:Bcl6
|
UTSW |
16 |
23,784,905 (GRCm39) |
missense |
probably benign |
|
|
R1134:Bcl6
|
UTSW |
16 |
23,787,115 (GRCm39) |
missense |
probably benign |
|
|
R1317:Bcl6
|
UTSW |
16 |
23,796,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1325:Bcl6
|
UTSW |
16 |
23,791,097 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1393:Bcl6
|
UTSW |
16 |
23,796,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1761:Bcl6
|
UTSW |
16 |
23,796,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2170:Bcl6
|
UTSW |
16 |
23,793,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Bcl6
|
UTSW |
16 |
23,791,382 (GRCm39) |
nonsense |
probably null |
|
|
R2293:Bcl6
|
UTSW |
16 |
23,796,359 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2907:Bcl6
|
UTSW |
16 |
23,786,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3900:Bcl6
|
UTSW |
16 |
23,796,304 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4681:Bcl6
|
UTSW |
16 |
23,787,203 (GRCm39) |
intron |
probably benign |
|
|
R5015:Bcl6
|
UTSW |
16 |
23,793,600 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5112:Bcl6
|
UTSW |
16 |
23,791,496 (GRCm39) |
missense |
probably benign |
|
|
R5185:Bcl6
|
UTSW |
16 |
23,791,697 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5371:Bcl6
|
UTSW |
16 |
23,788,736 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5586:Bcl6
|
UTSW |
16 |
23,791,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5659:Bcl6
|
UTSW |
16 |
23,787,159 (GRCm39) |
nonsense |
probably null |
|
|
R5909:Bcl6
|
UTSW |
16 |
23,791,556 (GRCm39) |
missense |
probably benign |
|
|
R6384:Bcl6
|
UTSW |
16 |
23,793,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Bcl6
|
UTSW |
16 |
23,793,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Bcl6
|
UTSW |
16 |
23,791,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Bcl6
|
UTSW |
16 |
23,791,364 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7122:Bcl6
|
UTSW |
16 |
23,791,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Bcl6
|
UTSW |
16 |
23,784,976 (GRCm39) |
nonsense |
probably null |
|
|
R7154:Bcl6
|
UTSW |
16 |
23,784,976 (GRCm39) |
nonsense |
probably null |
|
|
R7155:Bcl6
|
UTSW |
16 |
23,784,976 (GRCm39) |
nonsense |
probably null |
|
|
R7156:Bcl6
|
UTSW |
16 |
23,784,976 (GRCm39) |
nonsense |
probably null |
|
|
R7163:Bcl6
|
UTSW |
16 |
23,784,976 (GRCm39) |
nonsense |
probably null |
|
|
R7164:Bcl6
|
UTSW |
16 |
23,784,976 (GRCm39) |
nonsense |
probably null |
|
|
R7434:Bcl6
|
UTSW |
16 |
23,788,798 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7727:Bcl6
|
UTSW |
16 |
23,790,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8230:Bcl6
|
UTSW |
16 |
23,791,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8243:Bcl6
|
UTSW |
16 |
23,786,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8399:Bcl6
|
UTSW |
16 |
23,791,698 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8951:Bcl6
|
UTSW |
16 |
23,793,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Bcl6
|
UTSW |
16 |
23,793,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9401:Bcl6
|
UTSW |
16 |
23,791,107 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9471:Bcl6
|
UTSW |
16 |
23,791,857 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1176:Bcl6
|
UTSW |
16 |
23,788,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCAAGTCCCCAGGTTTG -3'
(R):5'- AAATAAAAGTCCCTACTGGTCCTATGG -3'
Sequencing Primer
(F):5'- AAGTCCCCAGGTTTGTCCTAAG -3'
(R):5'- CCTATGGGTTCCCATAAACGTTGAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation