Incidental Mutation 'IGL03271:Bcl6'
ID415270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl6
Ensembl Gene ENSMUSG00000022508
Gene NameB cell leukemia/lymphoma 6
SynonymsBcl5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock #IGL03271
Quality Score
Status
Chromosome16
Chromosomal Location23965052-23988852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 23970006 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 537 (H537Q)
Ref Sequence ENSEMBL: ENSMUSP00000023151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023151]
Predicted Effect probably benign
Transcript: ENSMUST00000023151
AA Change: H537Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
AA Change: H537Q

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
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G T 13: 111,255,874 V248L probably benign Het
Actl6b T A 5: 137,565,984 I256N probably damaging Het
Agl G T 3: 116,779,127 T825K probably benign Het
Arid5b A T 10: 68,097,457 S629T possibly damaging Het
Atp13a2 T C 4: 141,000,397 I495T possibly damaging Het
Cdh12 A G 15: 21,586,453 E786G probably benign Het
Cep290 T A 10: 100,537,801 N1307K probably benign Het
Cops3 A T 11: 59,833,063 N89K probably damaging Het
Cyp4a29 T C 4: 115,254,508 V494A probably damaging Het
Dlg1 A G 16: 31,857,892 H675R possibly damaging Het
Dnajc6 T A 4: 101,508,077 probably benign Het
Dock10 C A 1: 80,505,409 K2107N probably damaging Het
Dopey1 T A 9: 86,504,222 L382* probably null Het
Faxc A C 4: 21,948,757 K156N possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gapvd1 C A 2: 34,727,207 probably benign Het
Gfm1 T C 3: 67,474,743 Y717H probably damaging Het
Gm4884 A T 7: 41,043,275 T223S probably benign Het
Gstm3 C A 3: 107,966,197 V153F possibly damaging Het
H2-M10.5 G T 17: 36,773,351 L68F possibly damaging Het
Hmcn1 G T 1: 150,598,424 H4756N possibly damaging Het
Ift140 C A 17: 25,087,906 R872S probably damaging Het
Lars2 T A 9: 123,459,484 probably null Het
Ltbp4 A G 7: 27,329,815 V149A unknown Het
Mpp2 A T 11: 102,063,423 probably benign Het
Mybbp1a A G 11: 72,443,918 probably benign Het
Nxpe4 C A 9: 48,393,045 P144Q probably damaging Het
Olfr1341 T A 4: 118,709,785 I126N probably damaging Het
Olfr478 C T 7: 108,031,507 V279M probably damaging Het
Parp4 C A 14: 56,585,625 N67K probably benign Het
Pdk1 G T 2: 71,880,030 probably benign Het
Phip A T 9: 82,884,824 probably benign Het
Pls1 A G 9: 95,776,830 S202P probably benign Het
Pmpcb A G 5: 21,738,876 Y36C probably benign Het
Pole T C 5: 110,318,319 S1296P probably benign Het
Ptpn13 T C 5: 103,462,148 S4P probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sec61a2 A T 2: 5,882,934 L79* probably null Het
Slc2a5 T C 4: 150,135,583 L152P probably damaging Het
Smu1 C T 4: 40,738,408 G442D probably benign Het
Spag16 T A 1: 69,853,352 N97K probably benign Het
Spag6l C T 16: 16,780,728 D300N probably damaging Het
Sult3a1 A G 10: 33,864,001 T19A probably benign Het
Ttll6 A G 11: 96,156,687 H704R probably benign Het
Uba1 T A X: 20,675,717 D569E probably damaging Het
Umodl1 T A 17: 30,986,499 Y689* probably null Het
Unc80 A G 1: 66,695,603 probably benign Het
Utp15 C A 13: 98,253,694 V282F probably damaging Het
Vmn1r184 A G 7: 26,267,609 Y260C probably benign Het
Vmn1r69 A G 7: 10,580,669 V45A probably benign Het
Vmn2r4 C A 3: 64,398,429 R524L probably benign Het
Other mutations in Bcl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Bcl6 APN 16 23974891 missense probably damaging 1.00
IGL02505:Bcl6 APN 16 23977569 missense probably damaging 1.00
IGL03052:Bcl6 APN 16 23975038 splice site probably benign
R0220:Bcl6 UTSW 16 23966219 missense possibly damaging 0.95
R0401:Bcl6 UTSW 16 23972594 missense probably damaging 0.97
R0734:Bcl6 UTSW 16 23968139 missense probably damaging 0.99
R1105:Bcl6 UTSW 16 23966155 missense probably benign
R1134:Bcl6 UTSW 16 23968365 missense probably benign
R1317:Bcl6 UTSW 16 23977542 missense probably damaging 1.00
R1325:Bcl6 UTSW 16 23972347 missense probably benign 0.02
R1393:Bcl6 UTSW 16 23977566 missense probably damaging 0.99
R1761:Bcl6 UTSW 16 23977542 missense probably damaging 1.00
R2170:Bcl6 UTSW 16 23974930 missense probably damaging 1.00
R2220:Bcl6 UTSW 16 23972632 nonsense probably null
R2293:Bcl6 UTSW 16 23977609 missense probably damaging 0.98
R2907:Bcl6 UTSW 16 23968119 missense probably damaging 1.00
R3900:Bcl6 UTSW 16 23977554 missense possibly damaging 0.94
R4681:Bcl6 UTSW 16 23968453 intron probably benign
R5015:Bcl6 UTSW 16 23974850 missense probably damaging 0.98
R5112:Bcl6 UTSW 16 23972746 missense probably benign
R5185:Bcl6 UTSW 16 23972947 missense possibly damaging 0.77
R5371:Bcl6 UTSW 16 23969986 missense possibly damaging 0.92
R5586:Bcl6 UTSW 16 23973176 missense probably benign 0.01
R5659:Bcl6 UTSW 16 23968409 nonsense probably null
R5909:Bcl6 UTSW 16 23972806 missense probably benign
R6384:Bcl6 UTSW 16 23974865 missense probably damaging 1.00
R7036:Bcl6 UTSW 16 23974861 missense probably damaging 1.00
R7097:Bcl6 UTSW 16 23972614 missense possibly damaging 0.94
R7097:Bcl6 UTSW 16 23972902 missense probably damaging 1.00
R7122:Bcl6 UTSW 16 23972902 missense probably damaging 1.00
R7153:Bcl6 UTSW 16 23966226 nonsense probably null
R7154:Bcl6 UTSW 16 23966226 nonsense probably null
R7155:Bcl6 UTSW 16 23966226 nonsense probably null
R7156:Bcl6 UTSW 16 23966226 nonsense probably null
R7163:Bcl6 UTSW 16 23966226 nonsense probably null
R7164:Bcl6 UTSW 16 23966226 nonsense probably null
Posted On2016-08-02