Incidental Mutation 'R2220:Bcl6'
| ID |
241458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl6
|
| Ensembl Gene |
ENSMUSG00000022508 |
| Gene Name |
B cell leukemia/lymphoma 6 |
| Synonyms |
Bcl5 |
| MMRRC Submission |
040222-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R2220 (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 23791382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 324
(L324*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023151]
|
| AlphaFold |
P41183 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023151
AA Change: L324*
|
| SMART Domains |
Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
AA Change: L324*
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,344,572 (GRCm39) |
I116T |
probably damaging |
Het |
| Aatk |
G |
T |
11: 119,903,003 (GRCm39) |
F407L |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,917,681 (GRCm39) |
L1586Q |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,388,289 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
A |
G |
14: 49,318,552 (GRCm39) |
D420G |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,785,955 (GRCm39) |
S396P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,929,679 (GRCm39) |
|
probably null |
Het |
| Ccdc83 |
G |
A |
7: 89,908,722 (GRCm39) |
S4L |
probably damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,538,741 (GRCm39) |
M473L |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,881,178 (GRCm39) |
H363R |
probably damaging |
Het |
| Cfap61 |
G |
A |
2: 145,878,736 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
T |
C |
1: 74,943,184 (GRCm39) |
I1614V |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,557,947 (GRCm39) |
F1062I |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,508,369 (GRCm39) |
T1294S |
possibly damaging |
Het |
| Cops8 |
A |
C |
1: 90,534,341 (GRCm39) |
N94T |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,042,641 (GRCm39) |
D2364G |
possibly damaging |
Het |
| Cyb5d1 |
T |
C |
11: 69,285,871 (GRCm39) |
D55G |
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,275,676 (GRCm39) |
I39F |
probably benign |
Het |
| Cyp2j8 |
T |
C |
4: 96,332,862 (GRCm39) |
S495G |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,916,703 (GRCm39) |
L575P |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,560,333 (GRCm39) |
V2113I |
probably benign |
Het |
| Dusp3 |
T |
C |
11: 101,865,631 (GRCm39) |
N95D |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fer1l4 |
T |
G |
2: 155,873,684 (GRCm39) |
Y1207S |
probably damaging |
Het |
| Flg2 |
T |
G |
3: 93,109,492 (GRCm39) |
S507A |
unknown |
Het |
| Gdf6 |
A |
G |
4: 9,844,770 (GRCm39) |
H98R |
probably damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,727,439 (GRCm39) |
N63S |
possibly damaging |
Het |
| Ggt7 |
A |
G |
2: 155,337,639 (GRCm39) |
S504P |
probably damaging |
Het |
| Gtf2h5 |
G |
A |
17: 6,134,853 (GRCm39) |
E48K |
probably benign |
Het |
| Hivep3 |
T |
G |
4: 119,591,235 (GRCm39) |
V81G |
possibly damaging |
Het |
| Igsf21 |
A |
G |
4: 139,755,425 (GRCm39) |
M410T |
probably damaging |
Het |
| Insrr |
T |
C |
3: 87,716,725 (GRCm39) |
L651P |
probably damaging |
Het |
| Iqcb1 |
A |
T |
16: 36,663,824 (GRCm39) |
|
probably null |
Het |
| Klhdc7a |
G |
A |
4: 139,692,764 (GRCm39) |
R728C |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,247,845 (GRCm39) |
L334P |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,233,607 (GRCm39) |
E994G |
probably damaging |
Het |
| Mertk |
T |
A |
2: 128,643,392 (GRCm39) |
N930K |
probably benign |
Het |
| Mettl21a |
A |
T |
1: 64,655,442 (GRCm39) |
V46E |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,643,989 (GRCm39) |
C614S |
probably damaging |
Het |
| Or13a19 |
T |
C |
7: 139,903,484 (GRCm39) |
S291P |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,348,895 (GRCm39) |
Y258* |
probably null |
Het |
| Or5k1 |
G |
T |
16: 58,617,987 (GRCm39) |
A74D |
possibly damaging |
Het |
| Pard3b |
C |
T |
1: 62,518,842 (GRCm39) |
R976* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,020 (GRCm39) |
T327A |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,900,488 (GRCm39) |
N87K |
probably benign |
Het |
| Ppp1r37 |
C |
A |
7: 19,266,371 (GRCm39) |
R465L |
probably null |
Het |
| Ppp3ca |
C |
A |
3: 136,503,685 (GRCm39) |
T86K |
probably damaging |
Het |
| Ralgapa2 |
G |
A |
2: 146,263,599 (GRCm39) |
T706I |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,327,254 (GRCm39) |
L1747P |
possibly damaging |
Het |
| Slc11a1 |
T |
A |
1: 74,419,824 (GRCm39) |
F166I |
probably damaging |
Het |
| Slc25a18 |
G |
A |
6: 120,770,518 (GRCm39) |
|
probably null |
Het |
| Stt3a |
A |
G |
9: 36,660,847 (GRCm39) |
|
probably null |
Het |
| Supt16 |
G |
A |
14: 52,409,601 (GRCm39) |
R770* |
probably null |
Het |
| Syde2 |
A |
G |
3: 145,707,713 (GRCm39) |
I551V |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,631,872 (GRCm39) |
N876K |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,303,326 (GRCm39) |
D102G |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,152,039 (GRCm39) |
I294N |
possibly damaging |
Het |
| Tmem174 |
T |
C |
13: 98,773,767 (GRCm39) |
Y21C |
probably damaging |
Het |
| Tomm40l |
A |
T |
1: 171,049,550 (GRCm39) |
L13* |
probably null |
Het |
| Trim30c |
A |
G |
7: 104,032,474 (GRCm39) |
V284A |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,312,749 (GRCm39) |
N353K |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,904,890 (GRCm39) |
V79M |
probably damaging |
Het |
| Wfdc18 |
C |
T |
11: 83,600,739 (GRCm39) |
R45* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGAGGCTGTTGAGAACGATG -3'
(R):5'- TGTCACAGCAACATCTACTCG -3'
Sequencing Primer
(F):5'- GAACTTATACTTCTTCCAGTTGCAGG -3'
(R):5'- ATCTACTCGCCCAAGGAGG -3'
|
| Nature of Mutation |
|
CCCCCCAATGCACCCTTGAACCGGAAGGGTCTG
319 -P--P--N--A--P--L--N--R--K--G--L-
|
|
| Genotyping |
NOTE: These primers have not been validated. R2220:Bcl6 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transversion.
PCR Primers
R22200068(F): 5’- ATTGAGGCTGTTGAGAACGATG-3’
R22200068(R): 5’- TGTCACAGCAACATCTACTCG-3’ Sequencing Primers
R22200068_seq(F): 5’- GAACTTATACTTCTTCCAGTTGCAGG-3’
R22200068_seq(R): 5’- ATCTACTCGCCCAAGGAGG-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C hold The following sequence of 402 nucleotides is amplified (Chr.16: 23972439-23972840, GRCm38; NCBI RefSeq: NC_000082): attgaggctg ttgagaacga tgaacttata cttcttccag ttgcaggctt tcgggtcagt
ggggctcttg gctggcggag agccagaggc ctgaaggatg caggcgttct tgctgctgca
ggactctgtg ggtgagttgg gctggcagtc ggatttctgg ggactctggg gactaaccag
acccttccgg ttcaagggtg cattgggggg ctcgaaatgc agggcaatct catcctccga
agaaggtctc tcttcttctt tgctggcttt gtcacagggg aagtatggag cattccgagc
agaagggaca gcaggcttgg ggccctcagg cacactgtag tgtatgtcac tccgagcctc
ctctgggact gcctccttgg gcgagtagat gttgctgtga ca FASTA sequence Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr.+ strand, A>T; sense strand, T>A).
|
| Posted On |
2014-10-15 |
Incidental Mutation