Mutagenetix > Incidental Mutation

Incidental Mutation 'R1393:Bcl6'

162717

Institutional Source

Beutler Lab

Gene Symbol

Bcl6

Ensembl Gene

ENSMUSG00000022508

Gene Name

B cell leukemia/lymphoma 6

Synonyms

Bcl5

MMRRC Submission

039455-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R1393 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23783802-23807602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23796316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 37 (V37A)

Ref Sequence

ENSEMBL: ENSMUSP00000023151 (fasta)

Gene Model

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

AlphaFold

P41183

Predicted Effect

probably damaging
Transcript: ENSMUST00000023151
AA Change: V37A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
AA Change: V37A

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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.7%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,379,180 (GRCm39)	N682S	probably benign	Het
Acta2	G	A	19: 34,219,192 (GRCm39)	R337C	probably damaging	Het
Anxa5	G	A	3: 36,507,658 (GRCm39)	T194I	probably damaging	Het
Atf1	A	G	15: 100,130,647 (GRCm39)	T6A	possibly damaging	Het
Atg4d	T	A	9: 21,182,129 (GRCm39)	Y317N	probably damaging	Het
Bsn	T	C	9: 107,987,716 (GRCm39)		probably benign	Het
Cd300ld2	G	A	11: 114,903,404 (GRCm39)		probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Chad	A	T	11: 94,456,140 (GRCm39)	M73L	probably benign	Het
Copz1	A	G	15: 103,203,171 (GRCm39)	N95S	probably benign	Het
Cwf19l2	T	C	9: 3,456,818 (GRCm39)	V717A	probably benign	Het
Dock3	C	T	9: 106,788,548 (GRCm39)	G140R	probably damaging	Het
Gm14226	A	T	2: 154,866,111 (GRCm39)	S23C	probably damaging	Het
Gria2	T	C	3: 80,614,405 (GRCm39)	E545G	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or6c215	A	G	10: 129,637,801 (GRCm39)	F198L	probably benign	Het
Patj	G	A	4: 98,312,648 (GRCm39)	V329I	probably benign	Het
Ptcd3	T	A	6: 71,866,605 (GRCm39)	T404S	probably benign	Het
Rasa1	A	G	13: 85,371,641 (GRCm39)	C867R	probably damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Rsad2	T	C	12: 26,506,376 (GRCm39)	S15G	probably damaging	Het
Serpina12	T	C	12: 104,004,009 (GRCm39)	I208V	possibly damaging	Het
Spock1	A	T	13: 58,055,268 (GRCm39)	L45Q	probably damaging	Het
Stat3	A	T	11: 100,779,591 (GRCm39)		probably null	Het
Zfp810	T	C	9: 22,191,810 (GRCm39)	D90G	probably benign	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
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'- GGCCATTTGCTGAGATCTGGAGAC -3'
(R):5'- CCCCATTTGACAGCTATGCAAAGC -3'

Sequencing Primer
(F):5'- ACTAAGGAAATGTCATCTCGGAC -3'
(R):5'- acagctatgcaaagcaaagtc -3'

Posted On

2014-03-17