Incidental Mutation 'R5659:Bcl6'
ID |
444005 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bcl6
|
Ensembl Gene |
ENSMUSG00000022508 |
Gene Name |
B cell leukemia/lymphoma 6 |
Synonyms |
Bcl5 |
MMRRC Submission |
043303-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.949)
|
Stock # |
R5659 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
23783802-23807602 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 23787159 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 580
(C580*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023151
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023151]
|
AlphaFold |
P41183 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023151
AA Change: C580*
|
SMART Domains |
Protein: ENSMUSP00000023151 Gene: ENSMUSG00000022508 AA Change: C580*
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135352
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
T |
C |
18: 36,694,103 (GRCm39) |
S105P |
probably damaging |
Het |
Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
Ap3b2 |
T |
A |
7: 81,126,500 (GRCm39) |
I367F |
probably damaging |
Het |
Apaf1 |
A |
T |
10: 90,898,015 (GRCm39) |
C247* |
probably null |
Het |
Aqp8 |
G |
A |
7: 123,065,889 (GRCm39) |
W228* |
probably null |
Het |
Arhgap32 |
T |
A |
9: 32,093,256 (GRCm39) |
V178D |
probably damaging |
Het |
Atp10b |
T |
A |
11: 43,136,252 (GRCm39) |
W1127R |
probably damaging |
Het |
Brd1 |
T |
C |
15: 88,597,584 (GRCm39) |
T568A |
probably benign |
Het |
Brsk1 |
C |
T |
7: 4,718,371 (GRCm39) |
P665L |
possibly damaging |
Het |
Cblc |
A |
G |
7: 19,526,857 (GRCm39) |
L125P |
probably damaging |
Het |
Ccdc87 |
T |
C |
19: 4,890,878 (GRCm39) |
S457P |
probably damaging |
Het |
Cxcr5 |
C |
T |
9: 44,424,690 (GRCm39) |
M322I |
probably benign |
Het |
Cyb5r4 |
T |
A |
9: 86,937,881 (GRCm39) |
F300Y |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
Dhx9 |
A |
G |
1: 153,347,481 (GRCm39) |
V409A |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,392,009 (GRCm39) |
D3790G |
probably damaging |
Het |
Gin1 |
A |
G |
1: 97,703,257 (GRCm39) |
T27A |
possibly damaging |
Het |
Gipc1 |
A |
T |
8: 84,390,755 (GRCm39) |
M287L |
probably benign |
Het |
Kat6a |
T |
A |
8: 23,428,176 (GRCm39) |
L1177* |
probably null |
Het |
Klhl20 |
A |
G |
1: 160,918,040 (GRCm39) |
V82A |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,702,805 (GRCm39) |
I995T |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,590,990 (GRCm39) |
V814E |
probably damaging |
Het |
Luzp1 |
T |
A |
4: 136,269,787 (GRCm39) |
V670D |
probably damaging |
Het |
Lyst |
C |
A |
13: 13,809,212 (GRCm39) |
A294E |
possibly damaging |
Het |
Olr1 |
T |
A |
6: 129,476,992 (GRCm39) |
E91V |
probably damaging |
Het |
Or1j1 |
A |
T |
2: 36,702,966 (GRCm39) |
I46N |
probably damaging |
Het |
Or2k2 |
A |
T |
4: 58,785,672 (GRCm39) |
F17I |
probably damaging |
Het |
Or8b55 |
C |
T |
9: 38,727,072 (GRCm39) |
T91I |
probably benign |
Het |
Pam |
T |
C |
1: 97,770,024 (GRCm39) |
Y476C |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,225,470 (GRCm39) |
L761P |
probably damaging |
Het |
Phf21b |
C |
T |
15: 84,678,101 (GRCm39) |
W300* |
probably null |
Het |
Pld2 |
T |
C |
11: 70,448,387 (GRCm39) |
*945Q |
probably null |
Het |
Ppp1r37 |
C |
T |
7: 19,269,448 (GRCm39) |
V145M |
probably damaging |
Het |
Rasgrf1 |
T |
A |
9: 89,866,342 (GRCm39) |
N593K |
probably damaging |
Het |
Rhot1 |
T |
G |
11: 80,141,181 (GRCm39) |
|
probably null |
Het |
Rmnd1 |
A |
T |
10: 4,377,382 (GRCm39) |
M99K |
probably benign |
Het |
Ros1 |
G |
A |
10: 52,019,482 (GRCm39) |
T697I |
possibly damaging |
Het |
Scgb1b10 |
G |
T |
7: 31,800,303 (GRCm39) |
A4S |
probably benign |
Het |
Shc3 |
T |
C |
13: 51,670,630 (GRCm39) |
Y39C |
probably damaging |
Het |
Slc25a23 |
A |
G |
17: 57,352,500 (GRCm39) |
|
probably benign |
Het |
Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
Sqor |
G |
A |
2: 122,629,523 (GRCm39) |
C127Y |
probably benign |
Het |
Sv2a |
G |
C |
3: 96,097,619 (GRCm39) |
W467S |
possibly damaging |
Het |
Togaram2 |
G |
T |
17: 71,994,667 (GRCm39) |
D39Y |
probably damaging |
Het |
Tspan11 |
T |
A |
6: 127,915,240 (GRCm39) |
|
probably null |
Het |
Usp32 |
A |
G |
11: 84,968,240 (GRCm39) |
V141A |
possibly damaging |
Het |
Zbtb38 |
T |
C |
9: 96,569,473 (GRCm39) |
H537R |
probably damaging |
Het |
Zfat |
T |
C |
15: 67,990,862 (GRCm39) |
Y1008C |
probably damaging |
Het |
Zfp637 |
G |
A |
6: 117,820,291 (GRCm39) |
G3E |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,299,540 (GRCm39) |
Y673* |
probably null |
Het |
Zhx2 |
T |
C |
15: 57,685,704 (GRCm39) |
S358P |
probably benign |
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 |
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 |
|
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'- TACGGCTTCTCTCCAGTGTG -3'
(R):5'- GACCTTGTCCCTTGCAATGTG -3'
Sequencing Primer
(F):5'- TCCAGTGTGGATGAGCACG -3'
(R):5'- CTAGATCAGTGGTTCTCAGCCAG -3'
|
Posted On |
2016-11-09 |