Mutagenetix > Incidental Mutation

Incidental Mutation 'R7156:Bcl6'

557341

Institutional Source

Beutler Lab

Gene Symbol

Bcl6

Ensembl Gene

ENSMUSG00000022508

Gene Name

B cell leukemia/lymphoma 6

Synonyms

Bcl5

MMRRC Submission

045257-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23783802-23807602 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 23784976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 675 (R675*)

Ref Sequence

ENSEMBL: ENSMUSP00000023151 (fasta)

Gene Model

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

AlphaFold

P41183

Predicted Effect

probably null
Transcript: ENSMUST00000023151
AA Change: R675*

SMART Domains

Protein: ENSMUSP00000023151
Gene: ENSMUSG00000022508
AA Change: R675*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,643,282 (GRCm39)	I317T	possibly damaging	Het
Acsl5	G	A	19: 55,257,260 (GRCm39)		probably null	Het
Ahrr	G	A	13: 74,378,035 (GRCm39)	T136I	probably damaging	Het
AI597479	G	A	1: 43,150,261 (GRCm39)	D124N	probably damaging	Het
Arap2	G	T	5: 62,761,914 (GRCm39)	A1604D	probably damaging	Het
Cadps2	T	C	6: 23,688,955 (GRCm39)	N118S	probably benign	Het
Caskin1	T	A	17: 24,719,657 (GRCm39)		probably null	Het
Cc2d1a	C	T	8: 84,862,389 (GRCm39)	V684M	possibly damaging	Het
Ccdc91	T	C	6: 147,435,676 (GRCm39)	S87P	possibly damaging	Het
Cdr2l	A	G	11: 115,281,792 (GRCm39)	Q99R	probably benign	Het
Celsr3	T	C	9: 108,715,203 (GRCm39)	L2066P	possibly damaging	Het
Cep95	A	C	11: 106,700,050 (GRCm39)	L313F	possibly damaging	Het
Chst10	G	A	1: 38,913,088 (GRCm39)	T63M	probably damaging	Het
Clrn2	G	A	5: 45,611,258 (GRCm39)	G36R	probably damaging	Het
Cnn2	T	G	10: 79,830,349 (GRCm39)	Y273*	probably null	Het
Crtap	T	C	9: 114,207,164 (GRCm39)	T365A	probably benign	Het
D630045J12Rik	T	C	6: 38,171,964 (GRCm39)	T735A	possibly damaging	Het
Disp2	C	T	2: 118,622,292 (GRCm39)	A1008V	probably damaging	Het
Dmrt3	A	G	19: 25,588,317 (GRCm39)	D52G	probably damaging	Het
Dmrta1	T	G	4: 89,576,700 (GRCm39)	L52R	probably damaging	Het
Dmrta2	A	G	4: 109,839,185 (GRCm39)	T311A	probably damaging	Het
Dnm1	T	A	2: 32,230,479 (GRCm39)	N112Y	probably damaging	Het
Dysf	T	C	6: 84,064,858 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,833,229 (GRCm39)	F2034L	unknown	Het
F12	G	A	13: 55,566,310 (GRCm39)	A494V	probably damaging	Het
Fbp2	A	T	13: 62,989,675 (GRCm39)	F210L	probably benign	Het
Fbxo31	T	A	8: 122,281,060 (GRCm39)	Q362L	possibly damaging	Het
Fkbp4	C	T	6: 128,412,787 (GRCm39)	A95T	probably benign	Het
Frmd6	T	G	12: 70,923,983 (GRCm39)	C80W	probably damaging	Het
Fsip2	A	G	2: 82,813,085 (GRCm39)	I3135V	probably benign	Het
Garre1	G	T	7: 33,945,133 (GRCm39)	N582K	possibly damaging	Het
Guca2b	T	A	4: 119,514,887 (GRCm39)	E34V	probably damaging	Het
Hdlbp	G	A	1: 93,341,637 (GRCm39)	T974I	probably damaging	Het
Hsdl2	T	A	4: 59,617,653 (GRCm39)	M460K	possibly damaging	Het
Ift172	C	T	5: 31,429,419 (GRCm39)	V581M	probably damaging	Het
Ift74	A	G	4: 94,549,189 (GRCm39)	K313R	possibly damaging	Het
Ints4	T	A	7: 97,184,493 (GRCm39)		probably null	Het
Iqca1l	C	T	5: 24,757,648 (GRCm39)	E150K	probably benign	Het
Kif21b	A	C	1: 136,075,562 (GRCm39)	T230P	probably damaging	Het
Kit	A	T	5: 75,776,034 (GRCm39)	Y272F	probably benign	Het
Krt77	G	A	15: 101,773,931 (GRCm39)	T241M	probably benign	Het
Lce1j	T	A	3: 92,696,491 (GRCm39)	S96C	unknown	Het
Marveld3	T	A	8: 110,674,820 (GRCm39)	D332V	probably damaging	Het
Matr3	G	T	18: 35,705,974 (GRCm39)	V300F	probably damaging	Het
Mical1	T	A	10: 41,361,253 (GRCm39)		probably null	Het
Mslnl	T	A	17: 25,962,184 (GRCm39)	V194E	probably benign	Het
Mug1	C	A	6: 121,857,864 (GRCm39)	T1119K	probably damaging	Het
Mug1	C	T	6: 121,861,302 (GRCm39)	P1308S	probably damaging	Het
Neb	C	A	2: 52,195,295 (GRCm39)		probably null	Het
Neo1	T	A	9: 58,810,206 (GRCm39)	T1082S	probably damaging	Het
Nkx6-2	C	T	7: 139,162,045 (GRCm39)		probably null	Het
Or10g6	T	C	9: 39,934,526 (GRCm39)	I279T	probably benign	Het
Or8k27	T	A	2: 86,275,652 (GRCm39)	I225L	probably damaging	Het
Orc1	A	T	4: 108,452,656 (GRCm39)	E177V	probably benign	Het
Parp1	G	A	1: 180,426,629 (GRCm39)	V924I	possibly damaging	Het
Pax2	A	T	19: 44,777,298 (GRCm39)	I165F	probably benign	Het
Pnma2	C	T	14: 67,153,980 (GRCm39)	P135S	probably benign	Het
Ranbp17	A	G	11: 33,247,420 (GRCm39)	I718T	probably damaging	Het
Rbm25	T	A	12: 83,710,965 (GRCm39)	D359E	unknown	Het
Rgs3	T	C	4: 62,535,363 (GRCm39)	L194P	probably damaging	Het
Serpinb6b	A	G	13: 33,155,598 (GRCm39)	I104V	probably benign	Het
Smg9	A	G	7: 24,120,286 (GRCm39)	D420G	probably benign	Het
Smpd1	C	T	7: 105,203,693 (GRCm39)		probably benign	Het
Snx17	T	A	5: 31,354,692 (GRCm39)	M318K	probably damaging	Het
Spata31e5	A	T	1: 28,815,848 (GRCm39)	M728K	possibly damaging	Het
Stard10	G	A	7: 100,995,258 (GRCm39)	D337N	probably damaging	Het
Tex14	A	G	11: 87,375,545 (GRCm39)	T103A	probably damaging	Het
Tle1	A	G	4: 72,088,953 (GRCm39)	S97P	probably benign	Het
Tnfrsf8	T	A	4: 145,041,654 (GRCm39)	M1L	unknown	Het
Traf3ip2	T	C	10: 39,502,173 (GRCm39)	L107P	possibly damaging	Het
Trpc7	A	T	13: 56,937,579 (GRCm39)	S626T	possibly damaging	Het
Ubl7	T	A	9: 57,837,039 (GRCm39)	I350N	probably damaging	Het
Ubr3	T	A	2: 69,851,967 (GRCm39)	I1878N	probably damaging	Het
Usp24	G	T	4: 106,245,116 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,837,229 (GRCm39)	S2772T	possibly damaging	Het
Vmn2r79	T	C	7: 86,686,851 (GRCm39)	V744A	probably damaging	Het
Wbp2nl	T	C	15: 82,189,903 (GRCm39)	S32P	probably damaging	Het
Wwc1	A	G	11: 35,788,201 (GRCm39)		probably null	Het
Zfp629	C	T	7: 127,211,463 (GRCm39)	W115*	probably null	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
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
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'- AAAGTGTTACAGCATCCTTTGGG -3'
(R):5'- CAGTGTATACCTAACCTCCAGTGG -3'

Sequencing Primer
(F):5'- ACAGCATCCTTTGGGTAGATTC -3'
(R):5'- CCTCCAGTGGAAGCCAAGATTTG -3'

Posted On

2019-06-26