Mutagenetix > Incidental Mutation

Incidental Mutation 'RF022:Bcl3'

603940

Institutional Source

Beutler Lab

Gene Symbol

Bcl3

Ensembl Gene

ENSMUSG00000053175

Gene Name

B cell leukemia/lymphoma 3

Synonyms

Bcl-3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19542387-19556691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19542966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 393 (P393L)

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: P393L

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

SMART Domains

Protein: ENSMUSP00000113851
Gene: ENSMUSG00000053175
AA Change: P393L

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

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	GTACT	GTACTACT	12: 110,634,877 (GRCm39)		probably null	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adam6b	A	T	12: 113,455,289 (GRCm39)	E702V	possibly damaging	Het
Arpc3	A	G	5: 122,538,489 (GRCm39)	T7A	probably benign	Het
Ceacam9	A	G	7: 16,459,304 (GRCm39)	D201G	possibly damaging	Het
Chga	AGC	AGCCGC	12: 102,527,679 (GRCm39)		probably benign	Het
Clgn	A	G	8: 84,152,235 (GRCm39)	K579R	probably damaging	Het
Cntnap2	C	T	6: 46,998,599 (GRCm39)	R884W	probably damaging	Het
Col6a4	A	T	9: 105,954,207 (GRCm39)	D377E	probably damaging	Het
Cort	GCCCACTCGT	G	4: 149,209,869 (GRCm39)		probably benign	Het
D5Ertd579e	A	C	5: 36,772,006 (GRCm39)	I796M	probably damaging	Het
Dmkn	GGTGGAAGTGGTGGAAG	GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG	7: 30,466,600 (GRCm39)		probably benign	Het
Dpagt1	G	T	9: 44,243,262 (GRCm39)	V266L	possibly damaging	Het
Ebf3	C	A	7: 136,915,671 (GRCm39)		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,522,691 (GRCm39)		probably benign	Het
Flywch1	CACTCCTGGTGT	CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT	17: 23,981,141 (GRCm39)		probably null	Het
Gab3	CTT	CTTATT	X: 74,043,600 (GRCm39)		probably null	Het
Golga4	A	G	9: 118,387,057 (GRCm39)	D1393G	probably damaging	Het
Gpc5	G	A	14: 115,789,688 (GRCm39)	V521I	probably damaging	Het
Grik1	A	T	16: 87,693,225 (GRCm39)	N859K		Het
Insrr	G	A	3: 87,711,792 (GRCm39)	A511T	possibly damaging	Het
Isx	A	G	8: 75,600,474 (GRCm39)	D69G	probably damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Lkaaear1	CAGCTCCAG	CAGCTCCAGGTCGAGCTCCAG	2: 181,339,370 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,029,841 (GRCm39)	E915G	unknown	Het
Maml3	A	G	3: 51,764,083 (GRCm39)	S294P	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Mef2d	A	T	3: 88,075,574 (GRCm39)	T486S	probably benign	Het
Ms4a8a	A	G	19: 11,053,689 (GRCm39)	V139A	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2z8	T	G	8: 72,812,468 (GRCm39)	*315G	probably null	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,006,678 (GRCm39)		probably null	Het
Pnma8a	TCATGATGCACCTGCTTCAACATC	TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC	7: 16,695,352 (GRCm39)		probably benign	Het
Ppfibp2	T	C	7: 107,296,817 (GRCm39)	L177P	probably damaging	Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,102,467 (GRCm39)		probably benign	Het
Ptprh	A	G	7: 4,552,367 (GRCm39)	F966L	probably benign	Het
Rad17	A	G	13: 100,773,593 (GRCm39)	L132S	probably damaging	Het
Raph1	GG	GGGGG	1: 60,528,426 (GRCm39)		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,594,977 (GRCm39)		probably null	Het
Rwdd2b	C	T	16: 87,233,558 (GRCm39)	A181T	probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTTCCTGT	11: 32,373,054 (GRCm39)		probably benign	Het
Six3	CGG	CGGTGG	17: 85,928,784 (GRCm39)		probably benign	Het
Sla	C	T	15: 66,654,593 (GRCm39)	G231D	probably benign	Het
Tcof1	CAG	CAGTAG	18: 60,968,807 (GRCm39)		probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tgm5	T	A	2: 120,902,092 (GRCm39)	E192D	probably damaging	Het
Tmem123	A	G	9: 7,791,414 (GRCm39)	Y171C	probably damaging	Het
Tnrc18	G	A	5: 142,759,385 (GRCm39)	A999V		Het
Triobp	C	T	15: 78,858,482 (GRCm39)	P1361L	probably benign	Het
Ubac1	A	T	2: 25,895,470 (GRCm39)	W328R	probably damaging	Het
Ube2q1	A	G	3: 89,688,200 (GRCm39)	N324S	probably benign	Het
Zcchc2	T	C	1: 105,939,472 (GRCm39)	I407T	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	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
R4597:Bcl3	UTSW	7	19,546,428 (GRCm39)	missense	probably damaging	0.97
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

Predicted Primers

PCR Primer
(F):5'- GTTTCCAGAAGAGTGGTCCC -3'
(R):5'- GGTGACCTTCATTTTCCCACAG -3'

Sequencing Primer
(F):5'- TCCTCATGAGTCCGGGTCTG -3'
(R):5'- CCCACAGGTCATTGATATCTTAAGGG -3'

Posted On

2019-12-04