Incidental Mutation 'R7434:Bcl6'
| ID |
576645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl6
|
| Ensembl Gene |
ENSMUSG00000022508 |
| Gene Name |
B cell leukemia/lymphoma 6 |
| Synonyms |
Bcl5 |
| MMRRC Submission |
045511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R7434 (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 G
at 23788798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 523
(E523D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023151]
|
| AlphaFold |
P41183 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023151
AA Change: E523D
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
AA Change: E523D
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| 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 |
|---|
| Adamtsl1 |
T |
C |
4: 86,344,115 (GRCm39) |
V1731A |
probably damaging |
Het |
| Bcat2 |
A |
G |
7: 45,225,429 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
C |
T |
7: 130,881,212 (GRCm39) |
S1828F |
unknown |
Het |
| Col4a2 |
T |
A |
8: 11,471,250 (GRCm39) |
N503K |
probably damaging |
Het |
| Cyb5r1 |
G |
A |
1: 134,335,576 (GRCm39) |
C166Y |
probably benign |
Het |
| Cyp2w1 |
T |
C |
5: 139,342,775 (GRCm39) |
V490A |
possibly damaging |
Het |
| Erich6b |
A |
G |
14: 75,901,024 (GRCm39) |
I113V |
probably benign |
Het |
| Fabp12 |
C |
T |
3: 10,312,738 (GRCm39) |
V95I |
probably benign |
Het |
| Gask1b |
T |
A |
3: 79,848,669 (GRCm39) |
F472I |
probably damaging |
Het |
| Gpr3 |
T |
C |
4: 132,938,448 (GRCm39) |
M75V |
probably benign |
Het |
| Grm5 |
T |
G |
7: 87,779,682 (GRCm39) |
S1073A |
probably benign |
Het |
| Hoxc9 |
A |
G |
15: 102,892,414 (GRCm39) |
K209R |
probably damaging |
Het |
| Irgm2 |
T |
G |
11: 58,110,291 (GRCm39) |
V6G |
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,690,444 (GRCm39) |
V627A |
possibly damaging |
Het |
| Kansl1l |
C |
G |
1: 66,801,262 (GRCm39) |
S568T |
probably damaging |
Het |
| Lims1 |
A |
G |
10: 58,230,301 (GRCm39) |
T21A |
probably benign |
Het |
| Lpar2 |
G |
T |
8: 70,279,165 (GRCm39) |
A320S |
probably benign |
Het |
| Lpcat4 |
A |
G |
2: 112,073,400 (GRCm39) |
N235S |
probably damaging |
Het |
| Ly6g2 |
T |
C |
15: 75,088,567 (GRCm39) |
F12L |
probably benign |
Het |
| Meis1 |
A |
T |
11: 18,835,542 (GRCm39) |
S359T |
unknown |
Het |
| Mtor |
C |
T |
4: 148,549,416 (GRCm39) |
T600I |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,149,910 (GRCm39) |
S144P |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,274,025 (GRCm39) |
E205G |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,643,049 (GRCm39) |
I329T |
probably benign |
Het |
| Nos3 |
T |
C |
5: 24,587,633 (GRCm39) |
I1031T |
probably damaging |
Het |
| Nyap1 |
A |
G |
5: 137,734,530 (GRCm39) |
S168P |
probably damaging |
Het |
| Or56a4 |
A |
G |
7: 104,806,106 (GRCm39) |
V261A |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,903,515 (GRCm39) |
K73* |
probably null |
Het |
| Pcdhga11 |
T |
C |
18: 37,891,005 (GRCm39) |
V671A |
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,552,180 (GRCm39) |
D317G |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,103,389 (GRCm39) |
E1957G |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,159,414 (GRCm39) |
S3097P |
unknown |
Het |
| Tas2r113 |
C |
T |
6: 132,870,272 (GRCm39) |
T100I |
probably benign |
Het |
| Tnni1 |
A |
G |
1: 135,735,260 (GRCm39) |
D57G |
|
Het |
| Trim29 |
G |
A |
9: 43,246,428 (GRCm39) |
V575I |
probably damaging |
Het |
| Trpv3 |
G |
A |
11: 73,179,087 (GRCm39) |
V499M |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,693,161 (GRCm39) |
M1748I |
probably benign |
Het |
| Upk1a |
A |
T |
7: 30,306,617 (GRCm39) |
M99K |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,276,207 (GRCm39) |
L515* |
probably null |
Het |
| Vmn1r103 |
T |
C |
7: 20,244,435 (GRCm39) |
K9E |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,187,639 (GRCm39) |
V616A |
probably benign |
Het |
| Zfp101 |
A |
T |
17: 33,600,564 (GRCm39) |
S397R |
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 |
|
|
R7164:Bcl6
|
UTSW |
16 |
23,784,976 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGTAACCGATCACAGAGCCC -3'
(R):5'- CTCTGGAGTGAAACGTGTTTACC -3'
Sequencing Primer
(F):5'- GGCAGCGATCACATTTGT -3'
(R):5'- CTGGAGTGAAACGTGTTTACCTTAAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation