Mutagenetix > Incidental Mutation

Incidental Mutation 'R4407:Bcl6b'

327722

Institutional Source

Beutler Lab

Gene Symbol

Bcl6b

Ensembl Gene

ENSMUSG00000000317

Gene Name

B cell CLL/lymphoma 6, member B

Synonyms

Bazf

MMRRC Submission

041689-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R4407 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70114954-70120624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70116929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 450 (L450P)

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: L450P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000326
Gene: ENSMUSG00000000317
AA Change: L450P

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

SMART Domains

Protein: ENSMUSP00000121365
Gene: ENSMUSG00000000317

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

Meta Mutation Damage Score

0.8064

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (61/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830035A12Rik	T	C	11: 107,422,881 (GRCm39)		noncoding transcript	Het
Bbs10	A	G	10: 111,135,720 (GRCm39)	T278A	probably benign	Het
Braf	T	G	6: 39,592,654 (GRCm39)	K674Q	probably damaging	Het
Cep112	C	T	11: 108,410,027 (GRCm39)	T481I	possibly damaging	Het
Cep135	T	A	5: 76,772,514 (GRCm39)	M633K	probably benign	Het
Cpped1	T	C	16: 11,623,285 (GRCm39)	Y278C	probably damaging	Het
Depdc5	T	A	5: 33,061,878 (GRCm39)		probably null	Het
Dolpp1	C	T	2: 30,286,464 (GRCm39)	A128V	possibly damaging	Het
E2f5	T	A	3: 14,668,823 (GRCm39)	D238E	probably benign	Het
Fat4	A	T	3: 39,012,689 (GRCm39)	D2328V	probably benign	Het
Fbln1	T	A	15: 85,115,757 (GRCm39)		probably null	Het
Fkbp3	T	C	12: 65,116,778 (GRCm39)	T53A	probably damaging	Het
Flg2	G	T	3: 93,122,176 (GRCm39)	G1449C	unknown	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Glyctk	A	T	9: 106,034,307 (GRCm39)		probably benign	Het
Gm6430	T	C	1: 96,953,297 (GRCm39)		noncoding transcript	Het
Golga1	C	A	2: 38,909,653 (GRCm39)		probably null	Het
Gucy2g	A	T	19: 55,226,269 (GRCm39)	F216I	probably benign	Het
L3mbtl3	A	G	10: 26,189,782 (GRCm39)	V494A	unknown	Het
Lama2	AATCAGACAGGAG	A	10: 27,088,124 (GRCm39)		probably benign	Het
Lemd3	A	T	10: 120,761,335 (GRCm39)	L907Q	possibly damaging	Het
Lrp2	A	T	2: 69,332,861 (GRCm39)	V1552D	probably damaging	Het
Map3k12	T	C	15: 102,413,837 (GRCm39)	T45A	probably damaging	Het
Mycbp2	A	T	14: 103,524,664 (GRCm39)	D665E	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Or4p7	A	T	2: 88,222,427 (GRCm39)	M279L	probably benign	Het
Pcdhac2	G	T	18: 37,277,499 (GRCm39)	V160L	probably benign	Het
Pcnt	T	C	10: 76,210,704 (GRCm39)	E2473G	possibly damaging	Het
Pitpnm2	T	A	5: 124,290,678 (GRCm39)	I3L	possibly damaging	Het
Prkd3	C	A	17: 79,290,987 (GRCm39)	W176L	probably damaging	Het
Prpf39	C	T	12: 65,103,040 (GRCm39)	A438V	probably damaging	Het
Rpgrip1	T	A	14: 52,384,856 (GRCm39)	F655I	probably damaging	Het
Rrp12	T	C	19: 41,880,990 (GRCm39)	Y147C	probably damaging	Het
Sec23b	A	T	2: 144,416,638 (GRCm39)	N429Y	possibly damaging	Het
Slc2a10	T	A	2: 165,356,684 (GRCm39)	S115T	probably damaging	Het
Spg11	A	C	2: 121,905,813 (GRCm39)	D1277E	probably benign	Het
Sspo	A	G	6: 48,437,454 (GRCm39)	D1279G	probably damaging	Het
St18	T	C	1: 6,898,061 (GRCm39)	I621T	probably benign	Het
Tbc1d31	T	A	15: 57,783,438 (GRCm39)	D112E	possibly damaging	Het
Tdpoz6	C	A	3: 93,599,419 (GRCm39)	V317L	probably benign	Het
Tgm4	A	T	9: 122,885,595 (GRCm39)	D379V	probably damaging	Het
Thyn1	A	T	9: 26,914,893 (GRCm39)	D15V	possibly damaging	Het
Timd6	A	G	11: 46,468,207 (GRCm39)	T94A	probably damaging	Het
Tm4sf19	T	C	16: 32,226,712 (GRCm39)	V167A	possibly damaging	Het
Trim38	A	C	13: 23,975,474 (GRCm39)	Q471P	probably benign	Het
Trmt1	T	A	8: 85,424,384 (GRCm39)		probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Usp9y	T	C	Y: 1,336,375 (GRCm39)	I1500V	probably benign	Het
Vgll4	C	T	6: 114,867,573 (GRCm39)		probably null	Het
Vmn1r173	T	A	7: 23,402,441 (GRCm39)	N225K	probably damaging	Het
Vmn2r22	C	T	6: 123,614,913 (GRCm39)	G226R	probably damaging	Het
Wnk3	C	A	X: 150,016,209 (GRCm39)	P555Q	probably benign	Het
Yes1	T	G	5: 32,797,929 (GRCm39)	Y83D	possibly damaging	Het
Zdhhc15	G	A	X: 103,604,294 (GRCm39)	R322*	probably null	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
IGL02741:Bcl6b	APN	11	70,119,942 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- TGTCAGCAGTTTCTAATACCAGGG -3'
(R):5'- AAGGACCTAACAGTTGTTGATGC -3'

Sequencing Primer
(F):5'- GGTAACCCGGCACACCC -3'
(R):5'- TGCTTTTGTTAAGAAAGGCAAGGCC -3'

Posted On

2015-07-07