Incidental Mutation 'R5371:Bcl6'
ID |
428750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bcl6
|
Ensembl Gene |
ENSMUSG00000022508 |
Gene Name |
B cell leukemia/lymphoma 6 |
Synonyms |
Bcl5 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.949)
|
Stock # |
R5371 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
23783802-23807602 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23788736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 544
(D544V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023151
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023151]
|
AlphaFold |
P41183 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023151
AA Change: D544V
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000023151 Gene: ENSMUSG00000022508 AA Change: D544V
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
|
Meta Mutation Damage Score |
0.3572 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
96% (71/74) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
T |
7: 29,261,918 (GRCm39) |
|
noncoding transcript |
Het |
Arpp21 |
G |
A |
9: 111,895,000 (GRCm39) |
P755S |
probably benign |
Het |
Aspm |
C |
T |
1: 139,398,279 (GRCm39) |
Q982* |
probably null |
Het |
Atp5f1e |
C |
T |
2: 174,304,319 (GRCm39) |
|
probably benign |
Het |
BC024139 |
A |
G |
15: 76,004,886 (GRCm39) |
*598Q |
probably null |
Het |
Ccdc9 |
A |
T |
7: 16,014,655 (GRCm39) |
D195E |
probably damaging |
Het |
Cd38 |
A |
G |
5: 44,026,225 (GRCm39) |
N3S |
probably benign |
Het |
Cfap46 |
A |
T |
7: 139,212,097 (GRCm39) |
|
probably null |
Het |
Cmtr2 |
T |
C |
8: 110,948,044 (GRCm39) |
F118S |
probably damaging |
Het |
Cyp7a1 |
A |
G |
4: 6,268,378 (GRCm39) |
F449S |
probably damaging |
Het |
Dnah10 |
C |
T |
5: 124,820,693 (GRCm39) |
A509V |
probably benign |
Het |
Dsp |
A |
T |
13: 38,378,865 (GRCm39) |
Q1271L |
probably damaging |
Het |
Edar |
A |
C |
10: 58,443,274 (GRCm39) |
V284G |
possibly damaging |
Het |
Fdft1 |
A |
G |
14: 63,388,750 (GRCm39) |
V294A |
probably damaging |
Het |
Gba1 |
T |
A |
3: 89,112,778 (GRCm39) |
V140E |
probably benign |
Het |
Gm12185 |
A |
T |
11: 48,806,566 (GRCm39) |
S208R |
probably benign |
Het |
Gm21028 |
C |
A |
7: 42,227,946 (GRCm39) |
E23* |
probably null |
Het |
Gm6871 |
A |
G |
7: 41,222,992 (GRCm39) |
L32P |
probably benign |
Het |
Hhip |
C |
T |
8: 80,724,220 (GRCm39) |
V341M |
probably damaging |
Het |
Kcnq2 |
C |
A |
2: 180,776,813 (GRCm39) |
V25L |
probably damaging |
Het |
Krit1 |
C |
A |
5: 3,881,551 (GRCm39) |
H548N |
probably damaging |
Het |
Kynu |
C |
T |
2: 43,479,406 (GRCm39) |
A100V |
probably benign |
Het |
Lpp |
T |
C |
16: 24,708,554 (GRCm39) |
C295R |
probably damaging |
Het |
Mdp1 |
A |
G |
14: 55,897,806 (GRCm39) |
V9A |
probably damaging |
Het |
Mllt3 |
T |
C |
4: 87,759,093 (GRCm39) |
I318M |
possibly damaging |
Het |
Mpzl3 |
A |
G |
9: 44,966,510 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Mup8 |
A |
G |
4: 60,222,423 (GRCm39) |
V16A |
probably benign |
Het |
Myh13 |
T |
A |
11: 67,235,616 (GRCm39) |
|
probably null |
Het |
Myh4 |
A |
T |
11: 67,150,150 (GRCm39) |
Q1869L |
probably damaging |
Het |
Nt5c |
G |
A |
11: 115,381,643 (GRCm39) |
|
probably null |
Het |
Olfr908 |
CACAACAACA |
CACAACA |
9: 38,427,434 (GRCm39) |
|
probably benign |
Het |
Or13c7b |
A |
T |
4: 43,821,058 (GRCm39) |
M101K |
probably damaging |
Het |
Or51h7 |
T |
A |
7: 102,591,719 (GRCm39) |
M22L |
probably benign |
Het |
Or5d43 |
C |
A |
2: 88,104,976 (GRCm39) |
C139F |
probably damaging |
Het |
Parp11 |
T |
C |
6: 127,447,755 (GRCm39) |
F30L |
probably damaging |
Het |
Pcdhgc3 |
A |
T |
18: 37,941,507 (GRCm39) |
D636V |
possibly damaging |
Het |
Ppp1cb |
T |
C |
5: 32,643,332 (GRCm39) |
F234L |
probably damaging |
Het |
Rras2 |
A |
T |
7: 113,649,572 (GRCm39) |
V164E |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGACGGCGGCG |
7: 97,229,120 (GRCm39) |
|
probably benign |
Het |
Scg3 |
T |
C |
9: 75,568,583 (GRCm39) |
T390A |
probably damaging |
Het |
Shh |
C |
A |
5: 28,671,688 (GRCm39) |
C25F |
probably damaging |
Het |
Slc24a1 |
T |
C |
9: 64,856,550 (GRCm39) |
K119R |
unknown |
Het |
Speg |
G |
T |
1: 75,408,037 (GRCm39) |
R3244L |
possibly damaging |
Het |
Spns1 |
A |
G |
7: 125,972,936 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
A |
C |
7: 27,059,166 (GRCm39) |
|
probably null |
Het |
Stap1 |
T |
A |
5: 86,244,375 (GRCm39) |
F214Y |
possibly damaging |
Het |
Tcerg1 |
T |
A |
18: 42,652,600 (GRCm39) |
M76K |
unknown |
Het |
Tjp1 |
A |
T |
7: 64,963,059 (GRCm39) |
Y959* |
probably null |
Het |
Tmprss11e |
A |
T |
5: 86,875,225 (GRCm39) |
C14S |
probably benign |
Het |
Tnfrsf14 |
T |
C |
4: 155,006,934 (GRCm39) |
|
probably null |
Het |
Tsfm |
A |
C |
10: 126,847,512 (GRCm39) |
V193G |
probably benign |
Het |
Ube2q2l |
T |
A |
6: 136,378,371 (GRCm39) |
Y153F |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,175,267 (GRCm39) |
I1122L |
probably benign |
Het |
Vmn1r74 |
T |
A |
7: 11,580,984 (GRCm39) |
S95T |
probably damaging |
Het |
Vmn2r98 |
G |
A |
17: 19,290,015 (GRCm39) |
C517Y |
probably damaging |
Het |
Vstm2b |
G |
A |
7: 40,550,702 (GRCm39) |
S99N |
possibly damaging |
Het |
Zbtb24 |
A |
G |
10: 41,327,537 (GRCm39) |
N141S |
probably benign |
Het |
Zcchc4 |
T |
G |
5: 52,942,512 (GRCm39) |
C106G |
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 |
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'- AAGACAGGGTTAATCCTCTGGG -3'
(R):5'- ACATTGGCAGAGTTCCAGAGG -3'
Sequencing Primer
(F):5'- ATCTGATATGTGTGACCCCCAAG -3'
(R):5'- CAGAGTTCCAGAGGCGGGAG -3'
|
Posted On |
2016-09-06 |