Incidental Mutation 'R3900:Bcl6'
| ID |
308957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl6
|
| Ensembl Gene |
ENSMUSG00000022508 |
| Gene Name |
B cell leukemia/lymphoma 6 |
| Synonyms |
Bcl5 |
| MMRRC Submission |
041607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R3900 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
23783802-23807602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 23796304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 41
(E41A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023151]
|
| AlphaFold |
P41183 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023151
AA Change: E41A
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
AA Change: E41A
| 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 |
0.2794 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (45/46) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
T |
13: 54,700,781 (GRCm39) |
S212R |
probably damaging |
Het |
| AI182371 |
T |
C |
2: 34,975,228 (GRCm39) |
I334V |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Apc2 |
C |
A |
10: 80,131,806 (GRCm39) |
|
probably null |
Het |
| Brpf1 |
A |
G |
6: 113,295,394 (GRCm39) |
I674V |
probably benign |
Het |
| Cherp |
A |
G |
8: 73,223,780 (GRCm39) |
I201T |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,557,930 (GRCm39) |
H1056R |
probably benign |
Het |
| Csgalnact2 |
A |
T |
6: 118,097,975 (GRCm39) |
F122I |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,291,791 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,305,510 (GRCm39) |
Y1561C |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
| Eml5 |
G |
A |
12: 98,791,782 (GRCm39) |
R1245C |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm6133 |
A |
G |
18: 78,393,365 (GRCm39) |
N120D |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf9 |
T |
C |
1: 172,317,125 (GRCm39) |
L35P |
probably damaging |
Het |
| Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
| Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
G |
T |
7: 46,985,275 (GRCm39) |
R135S |
possibly damaging |
Het |
| Or4c11b |
A |
T |
2: 88,625,273 (GRCm39) |
L182F |
possibly damaging |
Het |
| Or8g2b |
A |
G |
9: 39,750,698 (GRCm39) |
|
probably null |
Het |
| Otud3 |
T |
C |
4: 138,624,196 (GRCm39) |
N282S |
probably benign |
Het |
| Prkar1a |
A |
G |
11: 109,551,901 (GRCm39) |
K130R |
probably benign |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Rictor |
T |
G |
15: 6,818,954 (GRCm39) |
D1392E |
probably benign |
Het |
| Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
| Slc22a18 |
C |
A |
7: 143,033,507 (GRCm39) |
A86E |
probably damaging |
Het |
| Slc24a1 |
A |
T |
9: 64,835,426 (GRCm39) |
S900R |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
| Smoc1 |
T |
C |
12: 81,214,287 (GRCm39) |
V234A |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,544,030 (GRCm39) |
T4443A |
possibly damaging |
Het |
| Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,009,322 (GRCm39) |
T461A |
probably benign |
Het |
| Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,206,373 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 38,019,486 (GRCm39) |
D752G |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,580,264 (GRCm39) |
I633N |
possibly damaging |
Het |
| Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
| Wdr6 |
G |
A |
9: 108,452,968 (GRCm39) |
A305V |
probably damaging |
Het |
| Zfp248 |
T |
C |
6: 118,406,527 (GRCm39) |
N253S |
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 |
|
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 |
|
|
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'- TTCTGAGAGTCCACAATGGCAG -3'
(R):5'- GCTAAGTCATCTGCTTGGTCC -3'
Sequencing Primer
(F):5'- GCAGGCCATTTGCTGAGATC -3'
(R):5'- AGGCAGGGACTAGGTTCTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation