Mutagenetix > Incidental Mutation

Incidental Mutation 'R0734:Bcl6'

68176

Institutional Source

Beutler Lab

Gene Symbol

Bcl6

Ensembl Gene

ENSMUSG00000022508

Gene Name

B cell leukemia/lymphoma 6

Synonyms

Bcl5

MMRRC Submission

038915-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R0734 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

23783802-23807602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23786889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 634 (E634G)

Ref Sequence

ENSEMBL: ENSMUSP00000023151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023151]

AlphaFold

P41183

Predicted Effect

probably damaging
Transcript: ENSMUST00000023151
AA Change: E634G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
AA Change: E634G

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

Meta Mutation Damage Score

0.1893

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.0%
20x: 93.3%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,668,198 (GRCm39)	S530T	probably benign	Het
Acer2	G	T	4: 86,835,796 (GRCm39)	K223N	probably benign	Het
Adam19	T	G	11: 46,018,230 (GRCm39)	C431G	probably damaging	Het
Adamts16	T	G	13: 70,886,600 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,344,500 (GRCm39)	E531V	probably benign	Het
Apaf1	A	T	10: 90,872,883 (GRCm39)	N720K	probably benign	Het
Atrnl1	T	A	19: 57,643,293 (GRCm39)	W394R	probably damaging	Het
Cfap65	T	A	1: 74,958,046 (GRCm39)	Y954F	probably damaging	Het
Cobl	A	G	11: 12,325,971 (GRCm39)	V168A	probably damaging	Het
Cped1	C	T	6: 22,085,040 (GRCm39)	P210S	probably damaging	Het
Crb1	C	T	1: 139,264,822 (GRCm39)	V199M	probably benign	Het
Cyp2j6	A	T	4: 96,412,081 (GRCm39)		probably benign	Het
Dhrs3	C	G	4: 144,653,746 (GRCm39)	S289W	probably damaging	Het
Dido1	T	G	2: 180,301,835 (GRCm39)	Q2023P	probably benign	Het
Dlg4	G	A	11: 69,933,531 (GRCm39)	G550R	probably damaging	Het
Dnah12	C	A	14: 26,521,970 (GRCm39)	H1928N	probably benign	Het
Dthd1	A	C	5: 62,996,753 (GRCm39)		probably benign	Het
Erg	C	A	16: 95,170,884 (GRCm39)	G269C	possibly damaging	Het
Erich6	G	A	3: 58,536,809 (GRCm39)		probably benign	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fancc	T	C	13: 63,479,656 (GRCm39)	R300G	probably damaging	Het
Fcer1g	T	A	1: 171,058,748 (GRCm39)	K47*	probably null	Het
Flt4	A	G	11: 49,517,544 (GRCm39)	T289A	possibly damaging	Het
Gcnt2	T	A	13: 41,013,997 (GRCm39)	F56Y	probably benign	Het
Gpatch8	G	T	11: 102,372,226 (GRCm39)	S437R	unknown	Het
Grin2a	T	A	16: 9,397,475 (GRCm39)	I871F	possibly damaging	Het
Hsd17b4	T	C	18: 50,303,844 (GRCm39)	V439A	possibly damaging	Het
Hykk	A	T	9: 54,853,716 (GRCm39)	K346M	possibly damaging	Het
Ifi208	T	C	1: 173,510,901 (GRCm39)	L352S	probably damaging	Het
Ikzf1	T	C	11: 11,708,195 (GRCm39)	V110A	probably damaging	Het
Irak3	A	T	10: 119,981,542 (GRCm39)		probably benign	Het
Lamp5	T	A	2: 135,900,950 (GRCm39)	V50E	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrch3	C	T	16: 32,817,853 (GRCm39)	R570*	probably null	Het
Map1lc3a	T	C	2: 155,118,896 (GRCm39)	V20A	possibly damaging	Het
Map3k14	C	A	11: 103,117,826 (GRCm39)	K655N	probably benign	Het
Mark2	A	G	19: 7,263,346 (GRCm39)		probably benign	Het
Mbtd1	G	A	11: 93,813,972 (GRCm39)	G205D	probably damaging	Het
Med13	T	C	11: 86,192,063 (GRCm39)	T861A	probably benign	Het
Meltf	T	A	16: 31,700,776 (GRCm39)	Y99N	probably damaging	Het
Mex3d	G	A	10: 80,217,366 (GRCm39)	T617I	possibly damaging	Het
Muc13	G	A	16: 33,623,452 (GRCm39)	V249I	probably damaging	Het
Myo18a	C	A	11: 77,738,230 (GRCm39)	P1688Q	probably damaging	Het
Naaladl1	A	T	19: 6,162,904 (GRCm39)		probably null	Het
Ncoa3	T	A	2: 165,911,111 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,770,409 (GRCm39)	T67A	probably benign	Het
Nin	A	G	12: 70,076,887 (GRCm39)	V1056A	probably benign	Het
Or1p1	A	T	11: 74,179,772 (GRCm39)	Q100L	probably damaging	Het
Or4d10c	T	A	19: 12,065,483 (GRCm39)	R224S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
P3h1	T	C	4: 119,095,885 (GRCm39)	L331P	probably damaging	Het
Pabpc4l	T	C	3: 46,401,408 (GRCm39)	K79E	possibly damaging	Het
Pam	T	A	1: 97,792,087 (GRCm39)	R445*	probably null	Het
Pcdhb6	T	C	18: 37,468,387 (GRCm39)	I436T	probably damaging	Het
Piezo2	A	G	18: 63,174,794 (GRCm39)	Y1987H	probably damaging	Het
Plch2	G	A	4: 155,080,740 (GRCm39)	T477I	probably damaging	Het
Postn	G	A	3: 54,270,136 (GRCm39)	G72R	probably damaging	Het
Proca1	G	A	11: 78,092,628 (GRCm39)		probably benign	Het
Psip1	T	A	4: 83,381,825 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,058,834 (GRCm39)	P153L	probably damaging	Het
Rgl1	T	C	1: 152,430,051 (GRCm39)	D242G	probably damaging	Het
Ric1	T	A	19: 29,572,218 (GRCm39)	I671K	possibly damaging	Het
Rxrg	T	A	1: 167,455,013 (GRCm39)	C199S	probably damaging	Het
Sec24c	A	C	14: 20,743,813 (GRCm39)	D1006A	probably damaging	Het
Sec63	A	G	10: 42,672,204 (GRCm39)	T173A	probably benign	Het
Sfxn5	T	C	6: 85,244,847 (GRCm39)		probably benign	Het
Spam1	A	G	6: 24,796,948 (GRCm39)	I300V	probably benign	Het
Spem1	A	G	11: 69,712,097 (GRCm39)	L189P	probably damaging	Het
Sptbn2	A	T	19: 4,798,151 (GRCm39)	R1959*	probably null	Het
Timeless	C	T	10: 128,085,929 (GRCm39)	R935W	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim24	T	C	6: 37,896,400 (GRCm39)	Y286H	possibly damaging	Het
Ttyh2	A	G	11: 114,601,019 (GRCm39)		probably benign	Het
Zbtb21	C	T	16: 97,753,827 (GRCm39)	C180Y	probably damaging	Het
Zfp746	T	C	6: 48,041,833 (GRCm39)	T298A	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ACACTGAGACCTGGGATTGGTGAAG -3'
(R):5'- TTCAATCGGCCAGCCAACCTGAAG -3'

Sequencing Primer
(F):5'- CTTGGACAATCAAGCAGGC -3'
(R):5'- GCCCTACAAATGTGAAACCTGTG -3'

Posted On

2013-09-03