Incidental Mutation 'IGL03052:Bcl6'
| ID |
409121 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bcl6
|
| Ensembl Gene |
ENSMUSG00000022508 |
| Gene Name |
B cell leukemia/lymphoma 6 |
| Synonyms |
Bcl5 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
IGL03052 (G1)
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
23783802-23807602 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 23793788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023151]
|
| AlphaFold |
P41183 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023151
|
| SMART Domains |
Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
| 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: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
C |
4: 155,987,815 (GRCm39) |
F517S |
probably damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,881,894 (GRCm39) |
V267A |
probably benign |
Het |
| Asap1 |
A |
G |
15: 64,025,683 (GRCm39) |
|
probably benign |
Het |
| Ccdc73 |
C |
A |
2: 104,782,281 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Cct5 |
A |
T |
15: 31,597,633 (GRCm39) |
H85Q |
probably damaging |
Het |
| Cfap69 |
A |
C |
5: 5,639,206 (GRCm39) |
L238R |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,668,628 (GRCm39) |
T470S |
probably benign |
Het |
| Cnga4 |
T |
C |
7: 105,053,932 (GRCm39) |
S12P |
probably benign |
Het |
| Cyp2c29 |
C |
T |
19: 39,275,662 (GRCm39) |
T34M |
possibly damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,637,329 (GRCm39) |
D49G |
possibly damaging |
Het |
| Dab2ip |
A |
G |
2: 35,533,909 (GRCm39) |
Q45R |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,858,240 (GRCm39) |
V164A |
probably damaging |
Het |
| Dnaaf8 |
A |
T |
16: 4,795,358 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7c |
A |
G |
1: 46,671,309 (GRCm39) |
Y1566C |
probably damaging |
Het |
| Dnase1l2 |
T |
C |
17: 24,659,968 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
G |
T |
11: 34,182,853 (GRCm39) |
N1593K |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,914,506 (GRCm39) |
M530I |
probably benign |
Het |
| Epm2a |
T |
C |
10: 11,332,974 (GRCm39) |
V269A |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Fgf2 |
A |
G |
3: 37,403,161 (GRCm39) |
S55G |
probably benign |
Het |
| Frem3 |
C |
T |
8: 81,341,159 (GRCm39) |
P1151S |
probably damaging |
Het |
| Gm15737 |
T |
C |
6: 92,846,481 (GRCm39) |
|
probably benign |
Het |
| Gpi-ps |
T |
A |
8: 5,689,816 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin-ps6 |
T |
C |
7: 106,022,902 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa3 |
G |
A |
6: 52,147,267 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
A |
G |
4: 92,079,287 (GRCm39) |
L178P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,281,188 (GRCm39) |
I3770V |
probably damaging |
Het |
| Mapk15 |
G |
T |
15: 75,865,731 (GRCm39) |
R8L |
probably benign |
Het |
| Mecom |
C |
T |
3: 30,015,112 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
C |
T |
10: 80,505,496 (GRCm39) |
R154H |
probably benign |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,341 (GRCm39) |
V70E |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,140,876 (GRCm39) |
K570E |
possibly damaging |
Het |
| Myo5c |
G |
T |
9: 75,159,798 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,173,442 (GRCm39) |
|
probably benign |
Het |
| Or52m2 |
C |
T |
7: 102,263,656 (GRCm39) |
R180Q |
probably benign |
Het |
| Or5b124 |
T |
C |
19: 13,611,090 (GRCm39) |
I205T |
probably benign |
Het |
| Or7g25 |
A |
T |
9: 19,159,938 (GRCm39) |
Y252* |
probably null |
Het |
| Pcca |
A |
T |
14: 123,124,513 (GRCm39) |
M695L |
probably benign |
Het |
| Pcdha2 |
A |
T |
18: 37,074,670 (GRCm39) |
D767V |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,459,189 (GRCm39) |
D16N |
probably benign |
Het |
| Prr11 |
T |
C |
11: 86,994,478 (GRCm39) |
N56S |
possibly damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,966,645 (GRCm39) |
|
probably benign |
Het |
| Sacs |
G |
T |
14: 61,445,307 (GRCm39) |
G2451V |
probably damaging |
Het |
| Scarb1 |
G |
A |
5: 125,371,163 (GRCm39) |
A4V |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,828,827 (GRCm39) |
C162Y |
probably damaging |
Het |
| Sik3 |
C |
A |
9: 46,109,447 (GRCm39) |
T475K |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,594,311 (GRCm39) |
I59L |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,437,387 (GRCm39) |
G1382R |
probably damaging |
Het |
| Stx16 |
C |
A |
2: 173,934,231 (GRCm39) |
P145T |
probably benign |
Het |
| Tnrc18 |
G |
A |
5: 142,760,974 (GRCm39) |
A674V |
unknown |
Het |
| Uqcrq |
A |
G |
11: 53,321,476 (GRCm39) |
V14A |
possibly damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,652,799 (GRCm39) |
E497V |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,267,115 (GRCm39) |
I166K |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,302,361 (GRCm39) |
D1010G |
probably benign |
Het |
| Wnk1 |
T |
A |
6: 119,921,760 (GRCm39) |
|
probably benign |
Het |
| Zfand3 |
T |
A |
17: 30,279,798 (GRCm39) |
M29K |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation