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) question?
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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