Mutagenetix > Incidental Mutation

Incidental Mutation 'R7153:Bcl6'

554282

Institutional Source

Beutler Lab

Gene Symbol

Bcl6

Ensembl Gene

ENSMUSG00000022508

Gene Name

B cell leukemia/lymphoma 6

Synonyms

Bcl5

MMRRC Submission

045255-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7153 (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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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
Ano2	A	G	6: 125,969,906 (GRCm39)	T741A	possibly damaging	Het
Aox4	T	C	1: 58,289,378 (GRCm39)	M767T	probably damaging	Het
Arhgap39	C	A	15: 76,649,691 (GRCm39)	S27I	probably benign	Het
AU018091	T	A	7: 3,209,353 (GRCm39)	M296L	probably benign	Het
Axin1	A	G	17: 26,406,942 (GRCm39)	T512A	probably benign	Het
B4galnt3	A	T	6: 120,191,929 (GRCm39)	D602E	probably benign	Het
Bsnd	A	T	4: 106,349,230 (GRCm39)	D3E	probably benign	Het
Btbd18	C	T	2: 84,496,772 (GRCm39)	R137*	probably null	Het
C2cd5	A	G	6: 142,965,135 (GRCm39)	S871P	probably benign	Het
Cobl	G	T	11: 12,204,128 (GRCm39)	P858Q	probably damaging	Het
Col6a1	C	T	10: 76,546,175 (GRCm39)		probably null	Het
Crb2	A	T	2: 37,677,420 (GRCm39)	H304L	probably benign	Het
Crybg1	T	A	10: 43,840,662 (GRCm39)	Y1812F	possibly damaging	Het
Ddx60	A	T	8: 62,441,142 (GRCm39)	K1070N	possibly damaging	Het
Defb22	T	C	2: 152,327,840 (GRCm39)	K115R	unknown	Het
Dhx8	C	T	11: 101,631,001 (GRCm39)		probably null	Het
Dnah5	T	A	15: 28,365,668 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,165,964 (GRCm39)	F543Y	probably benign	Het
Ehhadh	A	G	16: 21,585,071 (GRCm39)	F270S	probably damaging	Het
Esyt2	A	G	12: 116,310,128 (GRCm39)	M397V	probably benign	Het
Fanca	A	T	8: 124,043,164 (GRCm39)	L74H	probably damaging	Het
Fbxl17	C	A	17: 63,367,346 (GRCm39)	V676F	probably benign	Het
Fndc1	A	G	17: 8,020,477 (GRCm39)	V102A	probably damaging	Het
Gpalpp1	T	C	14: 76,332,451 (GRCm39)	Y273C	probably damaging	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,411,463 (GRCm39)	H225R	probably benign	Het
Helz2	A	T	2: 180,873,078 (GRCm39)	S2411T	probably benign	Het
Hnmt	C	T	2: 23,904,353 (GRCm39)	A103T	probably damaging	Het
Ighv15-2	G	T	12: 114,528,210 (GRCm39)	Y114*	probably null	Het
Irak2	A	G	6: 113,655,670 (GRCm39)	H357R	probably benign	Het
Kcp	T	C	6: 29,499,014 (GRCm39)	E320G	probably damaging	Het
Kpna4	A	G	3: 68,997,131 (GRCm39)	L352S	probably damaging	Het
Krt36	G	A	11: 99,995,972 (GRCm39)	Q151*	probably null	Het
Krt77	G	A	15: 101,773,931 (GRCm39)	T241M	probably benign	Het
Lca5l	T	A	16: 95,975,009 (GRCm39)	N305I	probably damaging	Het
Lefty1	T	A	1: 180,765,332 (GRCm39)	L300Q	probably benign	Het
Mertk	A	G	2: 128,578,569 (GRCm39)	Y185C	probably damaging	Het
Mmp14	T	C	14: 54,673,708 (GRCm39)	I124T	possibly damaging	Het
Nlrc4	T	C	17: 74,754,098 (GRCm39)	E95G	possibly damaging	Het
Npc1	A	G	18: 12,346,348 (GRCm39)	F283L	possibly damaging	Het
Or4k38	A	T	2: 111,166,246 (GRCm39)	M59K	probably damaging	Het
Or4p19	A	C	2: 88,242,462 (GRCm39)	L180W	probably damaging	Het
Pcdha11	T	C	18: 37,144,278 (GRCm39)	V123A	probably damaging	Het
Pcdhga2	T	C	18: 37,802,261 (GRCm39)	V35A	probably damaging	Het
Pgd	G	T	4: 149,246,135 (GRCm39)	T94K	probably benign	Het
Pik3c2a	T	C	7: 115,941,487 (GRCm39)	N1593S	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb3	A	G	19: 6,935,452 (GRCm39)		probably null	Het
Prkd3	C	T	17: 79,273,784 (GRCm39)	D491N	probably benign	Het
Ptprf	T	C	4: 118,088,740 (GRCm39)	T688A	probably damaging	Het
Pycr2	T	A	1: 180,734,247 (GRCm39)	L210M	probably damaging	Het
Rpl36	T	C	17: 56,921,137 (GRCm39)	I81T	probably benign	Het
Rraga	C	T	4: 86,494,253 (GRCm39)	A33V	probably damaging	Het
Slc29a1	G	A	17: 45,896,688 (GRCm39)	A429V	probably damaging	Het
Stab1	T	G	14: 30,882,541 (GRCm39)	E432A	probably benign	Het
Synj1	C	T	16: 90,744,978 (GRCm39)	G1189R	probably benign	Het
Synpo2	A	G	3: 122,906,053 (GRCm39)	*1088Q	probably null	Het
Tbc1d21	T	C	9: 58,270,376 (GRCm39)	D133G	probably damaging	Het
Tenm2	A	G	11: 35,915,009 (GRCm39)	V2176A	probably damaging	Het
Tff1	A	G	17: 31,381,772 (GRCm39)	I35T	probably benign	Het
Thnsl1	T	C	2: 21,217,764 (GRCm39)	V506A	possibly damaging	Het
Timm10b	A	G	7: 105,290,087 (GRCm39)	Q50R	unknown	Het
Tjp2	A	T	19: 24,079,345 (GRCm39)	N843K	probably benign	Het
Tle1	A	T	4: 72,057,298 (GRCm39)	F101I	probably benign	Het
Tmem225	T	C	9: 40,059,664 (GRCm39)	F15L	probably benign	Het
Trav12-3	T	C	14: 53,859,618 (GRCm39)	L88P	probably benign	Het
Ttc7b	A	T	12: 100,321,293 (GRCm39)	W613R	probably damaging	Het
Ttn	T	A	2: 76,608,848 (GRCm39)	M17723L	probably benign	Het
Ttn	T	C	2: 76,775,660 (GRCm39)	D1840G	unknown	Het
Tubgcp2	T	C	7: 139,580,949 (GRCm39)	H668R	probably benign	Het
Ush2a	C	A	1: 188,460,681 (GRCm39)	N2647K	possibly damaging	Het
Vmn1r14	C	T	6: 57,210,851 (GRCm39)	S143F	probably benign	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Ywhab	T	C	2: 163,855,980 (GRCm39)	F119L	probably damaging	Het
Zmym2	T	A	14: 57,187,659 (GRCm39)	D1108E	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
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
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'- AGTGTTACAGCATCCTTTGGG -3'
(R):5'- GCACAGTGTATACCTAACCTCCAG -3'

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

Posted On

2019-05-15