Incidental Mutation 'R7164:Bcl6'
| ID |
557823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl6
|
| Ensembl Gene |
ENSMUSG00000022508 |
| Gene Name |
B cell leukemia/lymphoma 6 |
| Synonyms |
Bcl5 |
| MMRRC Submission |
045331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R7164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
23783802-23807602 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 23784976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 675
(R675*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023151]
|
| AlphaFold |
P41183 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023151
AA Change: R675*
|
| SMART Domains |
Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
AA Change: R675*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
G |
A |
13: 12,293,847 (GRCm39) |
H558Y |
probably damaging |
Het |
| Ajm1 |
T |
A |
2: 25,468,579 (GRCm39) |
H444L |
possibly damaging |
Het |
| Akap9 |
G |
C |
5: 4,110,364 (GRCm39) |
E3022D |
probably damaging |
Het |
| Anapc2 |
C |
T |
2: 25,175,011 (GRCm39) |
R710C |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,738,739 (GRCm39) |
E844G |
probably damaging |
Het |
| Cdk17 |
T |
G |
10: 93,068,343 (GRCm39) |
S367A |
probably benign |
Het |
| Cfap206 |
T |
A |
4: 34,719,656 (GRCm39) |
M253L |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,253,132 (GRCm39) |
K228Q |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,123,846 (GRCm39) |
I1503N |
possibly damaging |
Het |
| Csn1s1 |
A |
G |
5: 87,822,087 (GRCm39) |
N119S |
possibly damaging |
Het |
| Czib |
C |
A |
4: 107,752,087 (GRCm39) |
D155E |
not run |
Het |
| Degs1 |
A |
G |
1: 182,106,690 (GRCm39) |
S226P |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,221,638 (GRCm39) |
W976R |
probably damaging |
Het |
| Fbxl4 |
C |
T |
4: 22,386,218 (GRCm39) |
P275L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,915,944 (GRCm38) |
|
probably null |
Het |
| Gnptab |
T |
A |
10: 88,269,932 (GRCm39) |
Y878* |
probably null |
Het |
| Gpr89 |
A |
T |
3: 96,778,714 (GRCm39) |
M453K |
probably benign |
Het |
| Igsf5 |
A |
T |
16: 96,174,048 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Inpp5e |
T |
A |
2: 26,297,995 (GRCm39) |
D202V |
possibly damaging |
Het |
| Itga3 |
C |
T |
11: 94,943,305 (GRCm39) |
V931M |
possibly damaging |
Het |
| Kcnab3 |
T |
C |
11: 69,222,184 (GRCm39) |
|
probably null |
Het |
| Klk4 |
T |
C |
7: 43,531,122 (GRCm39) |
I17T |
possibly damaging |
Het |
| Lrrc73 |
T |
C |
17: 46,567,169 (GRCm39) |
L206P |
probably damaging |
Het |
| Manba |
A |
T |
3: 135,248,149 (GRCm39) |
N346I |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,694,572 (GRCm39) |
|
probably null |
Het |
| Mast1 |
T |
C |
8: 85,661,933 (GRCm39) |
D63G |
possibly damaging |
Het |
| Mtf2 |
T |
A |
5: 108,241,235 (GRCm39) |
S254T |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,619,585 (GRCm39) |
T1379S |
unknown |
Het |
| Myo5a |
A |
G |
9: 75,087,435 (GRCm39) |
E1097G |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,329 (GRCm39) |
V238A |
possibly damaging |
Het |
| Nhlrc2 |
A |
G |
19: 56,580,931 (GRCm39) |
D493G |
probably damaging |
Het |
| Or10ak9 |
C |
T |
4: 118,726,922 (GRCm39) |
P315S |
probably benign |
Het |
| Or1j21 |
T |
C |
2: 36,683,709 (GRCm39) |
S154P |
probably benign |
Het |
| Or5ae2 |
A |
G |
7: 84,506,251 (GRCm39) |
I227V |
possibly damaging |
Het |
| Or5b108 |
A |
T |
19: 13,168,270 (GRCm39) |
M80L |
probably benign |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,932,176 (GRCm39) |
K52E |
probably damaging |
Het |
| Or8g51 |
A |
G |
9: 38,609,515 (GRCm39) |
I49T |
possibly damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,349 (GRCm39) |
C1543Y |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 109,169,222 (GRCm39) |
D88G |
probably benign |
Het |
| Pld5 |
A |
T |
1: 176,041,187 (GRCm39) |
M1K |
probably null |
Het |
| Prmt6 |
A |
G |
3: 110,157,680 (GRCm39) |
M203T |
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,986,510 (GRCm39) |
V995D |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,084,862 (GRCm39) |
E199G |
possibly damaging |
Het |
| Pth1r |
A |
G |
9: 110,552,815 (GRCm39) |
I439T |
possibly damaging |
Het |
| Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
| Slc44a1 |
T |
C |
4: 53,528,711 (GRCm39) |
S154P |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,855 (GRCm39) |
Y192* |
probably null |
Het |
| Spag16 |
A |
G |
1: 70,764,025 (GRCm39) |
H615R |
possibly damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,122,063 (GRCm39) |
T3649I |
probably damaging |
Het |
| Tas2r114 |
G |
A |
6: 131,666,728 (GRCm39) |
A100V |
possibly damaging |
Het |
| U2af1l4 |
T |
C |
7: 30,264,544 (GRCm39) |
S103P |
probably benign |
Het |
| Usp10 |
T |
C |
8: 120,668,847 (GRCm39) |
S383P |
probably damaging |
Het |
| Vmn2r113 |
A |
G |
17: 23,167,137 (GRCm39) |
R505G |
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,708,232 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
T |
C |
17: 46,716,865 (GRCm39) |
V999A |
probably damaging |
Het |
| Zfp324 |
A |
T |
7: 12,702,810 (GRCm39) |
H58L |
probably damaging |
Het |
| Zfp707 |
A |
G |
15: 75,846,967 (GRCm39) |
E339G |
possibly 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 |
|
|
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 |
|
|
R7914:Bcl6
|
UTSW |
16 |
23,788,761 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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'- AAAGTGTTACAGCATCCTTTGGG -3'
(R):5'- CAGTGTATACCTAACCTCCAGTGG -3'
Sequencing Primer
(F):5'- ACAGCATCCTTTGGGTAGATTC -3'
(R):5'- CCTCCAGTGGAAGCCAAGATTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation