Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01942:Bcl6b'

180877

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: 0.294) question?

Stock #

IGL01942

Quality Score

Status

Chromosome

Chromosomal Location

70114954-70120624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70117569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 379 (Y379F)

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: Y379F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000326
Gene: ENSMUSG00000000317
AA Change: Y379F

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 45,635,997 (GRCm39)	R1017W	possibly damaging	Het
Arhgef26	A	G	3: 62,247,515 (GRCm39)	R200G	probably benign	Het
Arid4b	A	T	13: 14,310,749 (GRCm39)		probably benign	Het
Atp1a2	A	C	1: 172,113,876 (GRCm39)	S369A	probably benign	Het
Bag3	T	A	7: 128,148,024 (GRCm39)	D546E	probably benign	Het
Cbln2	T	C	18: 86,734,450 (GRCm39)	V136A	probably benign	Het
Ccnf	A	T	17: 24,461,294 (GRCm39)	D120E	probably benign	Het
Cd14	T	A	18: 36,858,693 (GRCm39)	H254L	possibly damaging	Het
Chd3	A	G	11: 69,240,931 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,224,692 (GRCm39)	R150H	probably benign	Het
Dhx35	T	C	2: 158,673,784 (GRCm39)	L405P	probably damaging	Het
Dpf1	G	A	7: 29,015,927 (GRCm39)	C383Y	probably damaging	Het
Dse	T	A	10: 34,031,989 (GRCm39)	Q345L	probably benign	Het
Gnaz	A	G	10: 74,850,706 (GRCm39)	M244V	probably damaging	Het
Gpr65	A	T	12: 98,241,974 (GRCm39)	Y209F	possibly damaging	Het
Inpp5f	T	C	7: 128,269,493 (GRCm39)	I281T	probably damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Mapk8ip2	G	A	15: 89,341,220 (GRCm39)		probably null	Het
Med24	G	A	11: 98,600,508 (GRCm39)	R646W	probably damaging	Het
Nup98	A	T	7: 101,843,918 (GRCm39)	F102Y	probably damaging	Het
Or1n2	A	G	2: 36,797,869 (GRCm39)	M304V	probably benign	Het
Or4c35	G	T	2: 89,808,322 (GRCm39)	V67L	probably benign	Het
Or8g50	A	T	9: 39,648,962 (GRCm39)	M284L	possibly damaging	Het
Pgap3	T	C	11: 98,288,780 (GRCm39)	Y125C	probably damaging	Het
Rasl12	T	C	9: 65,315,644 (GRCm39)	V96A	probably damaging	Het
Rbm20	G	A	19: 53,801,874 (GRCm39)	M127I	probably damaging	Het
Rnf114	T	A	2: 167,354,546 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,269,294 (GRCm39)	T9I	possibly damaging	Het
Setd1b	T	A	5: 123,301,489 (GRCm39)	F16I	possibly damaging	Het
Slc25a28	A	G	19: 43,652,947 (GRCm39)	F238S	probably damaging	Het
Slc2a2	T	C	3: 28,759,952 (GRCm39)	V30A	probably damaging	Het
Slc35f4	T	C	14: 49,762,962 (GRCm39)		probably benign	Het
Socs4	T	A	14: 47,528,107 (GRCm39)	C347*	probably null	Het
Spock1	C	T	13: 57,578,141 (GRCm39)	E367K	probably damaging	Het
Ubap2	C	T	4: 41,251,608 (GRCm39)	R8H	probably benign	Het
Vmn1r44	T	A	6: 89,870,806 (GRCm39)	M41K	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp575	T	C	7: 24,285,240 (GRCm39)	T134A	possibly damaging	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
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
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

2014-05-07