Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02741:Bcl6b'

305918

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bcl6b

Ensembl Gene

ENSMUSG00000000317

Gene Name

B cell CLL/lymphoma 6, member B

Synonyms

Bazf

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.379) question?

Stock #

IGL02741

Quality Score

Status

Chromosome

Chromosomal Location

70114954-70120624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70119942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 15 (R15L)

Ref Sequence

ENSEMBL: ENSMUSP00000000326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000326] [ENSMUST00000153449]

AlphaFold

O88282

Predicted Effect

probably damaging
Transcript: ENSMUST00000000326
AA Change: R15L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000326
Gene: ENSMUSG00000000317
AA Change: R15L

Domain	Start	End	E-Value	Type
BTB	38	135	2.17e-25	SMART
low complexity region	143	163	N/A	INTRINSIC
ZnF_C2H2	323	345	4.11e-2	SMART
ZnF_C2H2	351	373	2.12e-4	SMART
ZnF_C2H2	379	401	8.34e-3	SMART
ZnF_C2H2	407	429	1.12e-3	SMART
ZnF_C2H2	435	458	1.33e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140542

Predicted Effect

probably benign
Transcript: ENSMUST00000153449
AA Change: R15L

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121365
Gene: ENSMUSG00000000317
AA Change: R15L

Domain	Start	End	E-Value	Type
BTB	38	116	2.14e-6	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display decreased CD4+ and CD8+ cell numbers in the thymus. Homozygous mice for one null allele display decreased secondary responses of memory CD8+ T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	T	C	2: 18,032,007 (GRCm39)	Y37C	unknown	Het
Arhgap20	T	A	9: 51,759,945 (GRCm39)	C599S	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dchs1	C	T	7: 105,406,530 (GRCm39)	D2262N	probably damaging	Het
Dsg4	A	G	18: 20,604,553 (GRCm39)	M1007V	probably benign	Het
Fgd6	A	G	10: 93,959,152 (GRCm39)	K1032R	possibly damaging	Het
Fras1	T	A	5: 96,839,230 (GRCm39)	M1583K	probably benign	Het
Gjc3	A	T	5: 137,955,726 (GRCm39)	C186*	probably null	Het
Gm14496	A	G	2: 181,633,136 (GRCm39)	R40G	probably benign	Het
Ibtk	T	C	9: 85,608,665 (GRCm39)	R416G	probably damaging	Het
Kcnc4	A	G	3: 107,355,294 (GRCm39)	F385L	probably damaging	Het
Mapk8ip2	T	C	15: 89,341,700 (GRCm39)	S304P	probably damaging	Het
Mbd6	A	G	10: 127,123,263 (GRCm39)		probably null	Het
Mroh2b	T	C	15: 4,935,114 (GRCm39)	F183S	probably benign	Het
Nrg1	T	A	8: 32,312,316 (GRCm39)	T334S	probably damaging	Het
Pigw	C	T	11: 84,769,192 (GRCm39)	V46I	probably benign	Het
Pkdrej	T	C	15: 85,701,631 (GRCm39)	E1435G	probably benign	Het
Pkhd1	T	C	1: 20,290,253 (GRCm39)		probably benign	Het
Prkdc	A	T	16: 15,570,590 (GRCm39)		probably benign	Het
Ptprd	A	T	4: 76,051,521 (GRCm39)	I247N	probably damaging	Het
Rfx1	A	G	8: 84,822,471 (GRCm39)	Q923R	possibly damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rps6ka2	T	A	17: 7,563,415 (GRCm39)	F608I	probably benign	Het
Slc13a1	A	T	6: 24,150,707 (GRCm39)		probably null	Het
Slc6a20b	C	T	9: 123,436,667 (GRCm39)	V249M	probably damaging	Het
Slc9c1	A	G	16: 45,401,961 (GRCm39)	I783V	possibly damaging	Het
Swap70	G	T	7: 109,873,856 (GRCm39)	M401I	probably benign	Het
Tmco4	A	T	4: 138,757,188 (GRCm39)	I407F	probably damaging	Het
Trpm4	T	A	7: 44,967,912 (GRCm39)	S340C	possibly damaging	Het
Tsc2	T	C	17: 24,848,943 (GRCm39)	E79G	probably damaging	Het
Ubr1	A	C	2: 120,771,572 (GRCm39)	S439A	probably benign	Het
Vmn1r73	T	C	7: 11,490,710 (GRCm39)	V176A	probably benign	Het
Vmn2r17	G	A	5: 109,568,077 (GRCm39)	D67N	probably benign	Het
Wasf1	C	T	10: 40,806,705 (GRCm39)	T116M	probably damaging	Het
Zkscan3	A	T	13: 21,578,164 (GRCm39)	M241K	probably benign	Het

Other mutations in Bcl6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Bcl6b	APN	11	70,119,310 (GRCm39)	unclassified	probably benign
IGL01942:Bcl6b	APN	11	70,117,569 (GRCm39)	missense	probably damaging	1.00
IGL02338:Bcl6b	APN	11	70,119,918 (GRCm39)	missense	probably damaging	1.00
IGL02725:Bcl6b	APN	11	70,119,344 (GRCm39)	missense	probably damaging	1.00
R4407:Bcl6b	UTSW	11	70,116,929 (GRCm39)	missense	probably damaging	1.00
R5508:Bcl6b	UTSW	11	70,116,919 (GRCm39)	missense	probably damaging	1.00
R5998:Bcl6b	UTSW	11	70,119,009 (GRCm39)	missense	probably damaging	1.00
R6257:Bcl6b	UTSW	11	70,116,878 (GRCm39)	missense	probably benign
R6600:Bcl6b	UTSW	11	70,119,954 (GRCm39)	missense	probably damaging	1.00
R7107:Bcl6b	UTSW	11	70,117,396 (GRCm39)	missense	probably damaging	1.00
R7896:Bcl6b	UTSW	11	70,117,848 (GRCm39)	nonsense	probably null
R8690:Bcl6b	UTSW	11	70,117,447 (GRCm39)	missense	probably damaging	0.99
R9223:Bcl6b	UTSW	11	70,117,400 (GRCm39)	nonsense	probably null
R9594:Bcl6b	UTSW	11	70,118,858 (GRCm39)	critical splice donor site	probably null
R9733:Bcl6b	UTSW	11	70,119,323 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16