Incidental Mutation 'R5015:Bcl6'
ID 385539
Institutional Source Beutler Lab
Gene Symbol Bcl6
Ensembl Gene ENSMUSG00000022508
Gene Name B cell leukemia/lymphoma 6
Synonyms Bcl5
MMRRC Submission 042606-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R5015 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 23783802-23807602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23793600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 116 (H116Y)
Ref Sequence ENSEMBL: ENSMUSP00000023151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023151]
AlphaFold P41183
Predicted Effect probably damaging
Transcript: ENSMUST00000023151
AA Change: H116Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
AA Change: H116Y

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
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,671 (GRCm39) F312L probably benign Het
Adprm A G 11: 66,932,856 (GRCm39) F18L possibly damaging Het
Ampd1 T G 3: 103,006,981 (GRCm39) N735K possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp1a4 T C 1: 172,081,649 (GRCm39) M168V probably damaging Het
Bmpr2 T A 1: 59,890,383 (GRCm39) N338K probably damaging Het
Bms1 A T 6: 118,381,224 (GRCm39) Y697* probably null Het
Ccdc33 A C 9: 58,025,918 (GRCm39) F37C probably damaging Het
Ccdc60 T A 5: 116,426,507 (GRCm39) Q30L probably benign Het
Cndp1 C A 18: 84,650,036 (GRCm39) R219L probably damaging Het
Cstdc4 T C 16: 36,006,837 (GRCm39) probably null Het
Daam2 C A 17: 49,783,550 (GRCm39) D627Y probably damaging Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dnah2 T G 11: 69,388,708 (GRCm39) T892P possibly damaging Het
Dqx1 A G 6: 83,043,092 (GRCm39) T610A probably benign Het
Dspp A T 5: 104,324,926 (GRCm39) I430L possibly damaging Het
Dytn T A 1: 63,672,854 (GRCm39) K516N probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fmnl2 T A 2: 52,993,773 (GRCm39) N389K possibly damaging Het
Fn1 G A 1: 71,665,336 (GRCm39) T927I probably damaging Het
Foxn1 T C 11: 78,261,989 (GRCm39) K127E probably damaging Het
Fpr-rs6 A G 17: 20,402,608 (GRCm39) F251S probably damaging Het
Frrs1 A G 3: 116,672,088 (GRCm39) D62G probably damaging Het
Fut10 T A 8: 31,726,148 (GRCm39) V301D probably damaging Het
Gk5 A G 9: 96,059,470 (GRCm39) probably null Het
Glipr1l1 T A 10: 111,914,279 (GRCm39) N213K probably benign Het
Gm1110 A G 9: 26,793,162 (GRCm39) F538S probably benign Het
Gm7347 T A 5: 26,262,366 (GRCm39) T52S probably benign Het
Gsap T C 5: 21,427,406 (GRCm39) I178T probably damaging Het
H1f9 C A 11: 94,858,928 (GRCm39) N74K probably damaging Het
Hcn1 A T 13: 117,739,556 (GRCm39) Q106L unknown Het
Isg20l2 G T 3: 87,839,288 (GRCm39) L166F possibly damaging Het
Kcnq3 T A 15: 65,876,612 (GRCm39) E510D probably damaging Het
Kif26b G T 1: 178,755,895 (GRCm39) R2003L probably damaging Het
Kiss1r T C 10: 79,754,641 (GRCm39) V45A probably damaging Het
Krt14 G A 11: 100,098,032 (GRCm39) R84* probably null Het
Mbd5 T C 2: 49,148,208 (GRCm39) M806T possibly damaging Het
Mdga1 A T 17: 30,058,847 (GRCm39) I13N possibly damaging Het
Mfsd4b5 T C 10: 39,850,758 (GRCm39) K73E probably benign Het
Mterf2 C T 10: 84,955,596 (GRCm39) G343R probably benign Het
Mto1 T A 9: 78,368,903 (GRCm39) F522I probably benign Het
Myo18b T C 5: 112,937,923 (GRCm39) E1734G probably damaging Het
Myoz1 T C 14: 20,703,787 (GRCm39) T53A probably benign Het
Naxd T C 8: 11,563,032 (GRCm39) L324P probably damaging Het
Nos1 T A 5: 118,005,334 (GRCm39) V18D probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Or10v5 T C 19: 11,805,482 (GRCm39) R303G probably benign Het
Or10z1 A G 1: 174,078,448 (GRCm39) L15S possibly damaging Het
Or1e29 C G 11: 73,668,007 (GRCm39) V49L probably benign Het
Or2j6 T C 7: 139,980,083 (GRCm39) D292G probably damaging Het
Or52b1 A G 7: 104,978,811 (GRCm39) V196A possibly damaging Het
Otof T A 5: 30,540,238 (GRCm39) Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pex1 A G 5: 3,670,597 (GRCm39) K7E probably damaging Het
Pi4ka A G 16: 17,120,946 (GRCm39) S73P possibly damaging Het
Plxnb1 T A 9: 108,929,498 (GRCm39) I118N possibly damaging Het
Prcc T C 3: 87,779,560 (GRCm39) D158G probably damaging Het
Ptpn7 C A 1: 135,066,877 (GRCm39) R245S possibly damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwp2 A G 10: 78,018,527 (GRCm39) C86R probably benign Het
Rfng T G 11: 120,673,876 (GRCm39) D178A probably damaging Het
Rhpn1 T C 15: 75,580,090 (GRCm39) I51T probably damaging Het
Rnasel G T 1: 153,629,843 (GRCm39) E120* probably null Het
Sall2 T G 14: 52,553,112 (GRCm39) S26R possibly damaging Het
Scn10a A G 9: 119,451,987 (GRCm39) V1312A possibly damaging Het
Sdk2 C A 11: 113,684,587 (GRCm39) R1958L probably damaging Het
Septin4 C T 11: 87,458,043 (GRCm39) S139F possibly damaging Het
Slc52a2 T A 15: 76,424,751 (GRCm39) C330S probably damaging Het
Smarca2 T A 19: 26,668,788 (GRCm39) I987N possibly damaging Het
Srrt A T 5: 137,294,271 (GRCm39) Y486N probably damaging Het
Stat5b A T 11: 100,695,831 (GRCm39) N50K possibly damaging Het
Strip2 T A 6: 29,931,265 (GRCm39) D405E probably benign Het
Tcstv6 T A 13: 120,298,474 (GRCm39) probably null Het
Tnc A T 4: 63,924,739 (GRCm39) D986E probably damaging Het
Tph2 T C 10: 114,915,621 (GRCm39) N473S probably benign Het
Tpp1 C T 7: 105,401,232 (GRCm39) probably benign Het
Trpm3 T C 19: 22,689,076 (GRCm39) Y2H probably damaging Het
Ttc21a A T 9: 119,795,195 (GRCm39) E1072V probably damaging Het
Zfat T C 15: 68,050,762 (GRCm39) D753G probably damaging Het
Zmym2 T A 14: 57,159,051 (GRCm39) S609T probably damaging 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
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'- CAGGAATGGTGTCTGCCTAGAG -3'
(R):5'- ATGCTTTGTGACCACTACAGTG -3'

Sequencing Primer
(F):5'- CCTAGAGCATGTGAATAAAGAGAAGC -3'
(R):5'- AGCGGCCTGTTCTACAGTATC -3'
Posted On 2016-05-10