Mutagenetix > Incidental Mutation

Incidental Mutation 'R4597:Bcl3'

344444

Institutional Source

Beutler Lab

Gene Symbol

Bcl3

Ensembl Gene

ENSMUSG00000053175

Gene Name

B cell leukemia/lymphoma 3

Synonyms

Bcl-3

MMRRC Submission

041813-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19542387-19556691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 19546428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 136 (I136L)

Ref Sequence

ENSEMBL: ENSMUSP00000113851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120537] [ENSMUST00000135609]

AlphaFold

Q9Z2F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000120537
AA Change: I136L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113851
Gene: ENSMUSG00000053175
AA Change: I136L

Domain	Start	End	E-Value	Type
ANK	129	162	4.01e0	SMART
ANK	166	195	4.43e-2	SMART
ANK	199	230	8.99e-3	SMART
ANK	236	265	3.23e-4	SMART
ANK	270	299	5.79e-6	SMART
ANK	303	332	1.4e1	SMART
low complexity region	377	402	N/A	INTRINSIC
low complexity region	425	447	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128181

Predicted Effect

probably benign
Transcript: ENSMUST00000135609

SMART Domains

Protein: ENSMUSP00000117754
Gene: ENSMUSG00000053175

Domain	Start	End	E-Value	Type
Pfam:Ank_5	1	52	7.2e-7	PFAM
low complexity region	85	94	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139680

SMART Domains

Protein: ENSMUSP00000116129
Gene: ENSMUSG00000053175

Domain	Start	End	E-Value	Type
ANK	66	99	4.01e0	SMART
ANK	103	132	4.43e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146194
AA Change: I167L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152768

Meta Mutation Damage Score

0.0985

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (67/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking functional copies of this gene exhibit defects of the immune system including disruption of the humoral immune response and abnormal spleen and Peyer's patch organogenesis. Mutant mice show increased susceptibility to pathogens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	T	A	2: 103,856,500 (GRCm39)		probably benign	Het
Aadacl2fm3	T	A	3: 59,784,214 (GRCm39)	M229K	possibly damaging	Het
Adh5	T	C	3: 138,151,118 (GRCm39)	V27A	probably damaging	Het
Ank2	A	T	3: 126,781,800 (GRCm39)	D843E	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arid2	A	G	15: 96,268,737 (GRCm39)	N950S	probably damaging	Het
Arl1	A	T	10: 88,566,608 (GRCm39)		probably benign	Het
Car9	T	A	4: 43,509,138 (GRCm39)	S235R	probably damaging	Het
Carnmt1	G	T	19: 18,648,451 (GRCm39)	G30W	probably damaging	Het
Casp12	C	T	9: 5,348,941 (GRCm39)	T101I	possibly damaging	Het
Cdh23	A	G	10: 60,244,823 (GRCm39)	L1026P	probably damaging	Het
Clec10a	A	T	11: 70,060,806 (GRCm39)	Y186F	probably damaging	Het
Col22a1	G	T	15: 71,836,511 (GRCm39)	A508E	possibly damaging	Het
Crocc	G	C	4: 140,747,088 (GRCm39)	S1573R	probably damaging	Het
Cttnbp2nl	G	T	3: 104,913,191 (GRCm39)	T231K	possibly damaging	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Ehbp1l1	T	C	19: 5,767,955 (GRCm39)	E1116G	possibly damaging	Het
Fam83d	T	C	2: 158,627,142 (GRCm39)	V277A	possibly damaging	Het
Fga	G	T	3: 82,938,542 (GRCm39)	G306*	probably null	Het
Fkbp9	A	G	6: 56,809,367 (GRCm39)	Y59C	probably damaging	Het
Frmpd1	A	G	4: 45,274,441 (GRCm39)	T450A	probably benign	Het
Gabbr1	A	G	17: 37,367,791 (GRCm39)	M414V	possibly damaging	Het
Gm16506	A	G	14: 43,962,572 (GRCm39)	F112L	unknown	Het
Gm27047	T	C	6: 130,607,299 (GRCm39)		noncoding transcript	Het
Gm4353	T	A	7: 115,682,847 (GRCm39)	K245*	probably null	Het
Gm4950	A	T	18: 51,998,865 (GRCm39)	I30N	probably benign	Het
H1f5	A	T	13: 21,964,681 (GRCm39)	V15E	probably damaging	Het
H2-M10.2	T	C	17: 36,596,285 (GRCm39)	T187A	probably benign	Het
H60c	A	T	10: 3,209,968 (GRCm39)	N106K	possibly damaging	Het
Hoxa6	T	C	6: 52,185,387 (GRCm39)		probably null	Het
Ighv1-74	A	G	12: 115,766,276 (GRCm39)	C115R	probably damaging	Het
Il17a	G	A	1: 20,801,217 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,672,582 (GRCm39)	Y199H	probably damaging	Het
Itpr3	C	T	17: 27,312,257 (GRCm39)	R554C	probably damaging	Het
Kcnc3	T	A	7: 44,245,240 (GRCm39)	M510K	probably damaging	Het
Kif15	A	G	9: 122,822,914 (GRCm39)	T432A	probably benign	Het
Kif26b	A	T	1: 178,744,358 (GRCm39)	S1485C	probably damaging	Het
Klhl2	C	A	8: 65,207,421 (GRCm39)	G313W	probably damaging	Het
Klhl32	C	T	4: 24,629,339 (GRCm39)	S476N	probably benign	Het
Krt1	C	T	15: 101,756,063 (GRCm39)	E386K	possibly damaging	Het
Lats1	T	C	10: 7,567,510 (GRCm39)	S94P	probably benign	Het
Ltf	G	A	9: 110,852,001 (GRCm39)	C146Y	probably damaging	Het
Mars1	A	G	10: 127,136,322 (GRCm39)	L501P	probably damaging	Het
Myh2	A	C	11: 67,080,244 (GRCm39)	I1153L	probably benign	Het
Ncstn	A	T	1: 171,895,823 (GRCm39)	Y522*	probably null	Het
Nipal4	A	G	11: 46,042,156 (GRCm39)	V175A	probably damaging	Het
Or7e169	T	C	9: 19,756,987 (GRCm39)	I309M	probably benign	Het
Pcdha1	C	G	18: 37,064,959 (GRCm39)	A541G	possibly damaging	Het
Pex11g	A	G	8: 3,514,043 (GRCm39)	Y40H	probably damaging	Het
Pira13	T	A	7: 3,825,154 (GRCm39)	Y496F	possibly damaging	Het
Qrfprl	T	C	6: 65,424,408 (GRCm39)		probably null	Het
Rin2	G	T	2: 145,702,825 (GRCm39)	R507L	probably benign	Het
Sh2b2	T	C	5: 136,260,616 (GRCm39)	D200G	probably damaging	Het
Smg7	C	A	1: 152,716,052 (GRCm39)		probably null	Het
Snx17	T	C	5: 31,355,857 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,741,255 (GRCm39)	Y510C	probably benign	Het
Spata31d1c	T	A	13: 65,183,427 (GRCm39)	L323*	probably null	Het
Supt16	C	T	14: 52,411,046 (GRCm39)	G686D	probably damaging	Het
Szt2	C	T	4: 118,229,878 (GRCm39)	R2751H	unknown	Het
Tnfsf8	A	G	4: 63,755,337 (GRCm39)	L95P	probably damaging	Het
Vmn2r17	A	G	5: 109,577,428 (GRCm39)	H493R	probably benign	Het
Zfp770	C	T	2: 114,027,251 (GRCm39)	A273T	possibly damaging	Het

Other mutations in Bcl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Bcl3	APN	7	19,543,539 (GRCm39)	missense	probably damaging	1.00
IGL01669:Bcl3	APN	7	19,546,416 (GRCm39)	nonsense	probably null
IGL03024:Bcl3	APN	7	19,543,059 (GRCm39)	splice site	probably benign
Memorial	UTSW	7	19,546,409 (GRCm39)	missense	probably damaging	1.00
sunrise	UTSW	7	19,545,505 (GRCm39)	nonsense	probably null
sunrise2	UTSW	7	19,543,559 (GRCm39)	nonsense	probably null
R0124:Bcl3	UTSW	7	19,543,576 (GRCm39)	missense	probably damaging	1.00
R0136:Bcl3	UTSW	7	19,543,494 (GRCm39)	missense	probably damaging	1.00
R0554:Bcl3	UTSW	7	19,553,991 (GRCm39)	missense	probably benign	0.26
R1845:Bcl3	UTSW	7	19,543,552 (GRCm39)	missense	probably damaging	0.98
R2571:Bcl3	UTSW	7	19,543,452 (GRCm39)	missense	probably damaging	1.00
R4355:Bcl3	UTSW	7	19,545,505 (GRCm39)	nonsense	probably null
R4993:Bcl3	UTSW	7	19,554,102 (GRCm39)	missense	probably benign	0.00
R5587:Bcl3	UTSW	7	19,543,559 (GRCm39)	nonsense	probably null
R6232:Bcl3	UTSW	7	19,546,409 (GRCm39)	missense	probably damaging	1.00
R7439:Bcl3	UTSW	7	19,556,536 (GRCm39)	missense	probably benign
R7565:Bcl3	UTSW	7	19,546,419 (GRCm39)	missense	probably damaging	1.00
R8443:Bcl3	UTSW	7	19,554,082 (GRCm39)	missense	probably benign	0.01
R9105:Bcl3	UTSW	7	19,543,175 (GRCm39)	missense	probably damaging	1.00
R9500:Bcl3	UTSW	7	19,556,602 (GRCm39)	start codon destroyed	probably null	0.14
R9540:Bcl3	UTSW	7	19,556,445 (GRCm39)	missense	probably benign	0.09
RF022:Bcl3	UTSW	7	19,542,966 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGGATGTGGATGCTGGCTC -3'
(R):5'- TCCTCTGGCTTTGATGTGACAG -3'

Sequencing Primer
(F):5'- TGGATGCTGGCTCCCCTG -3'
(R):5'- TGTGACAGTCTGACAGGGC -3'

Posted On

2015-09-25