Mutagenetix > Incidental Mutation

Incidental Mutation 'R7565:Bcl3'

585377

Institutional Source

Beutler Lab

Gene Symbol

Bcl3

Ensembl Gene

ENSMUSG00000053175

Gene Name

B cell leukemia/lymphoma 3

Synonyms

Bcl-3

MMRRC Submission

045710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19542387-19556691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19546419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 139 (V139I)

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: V139I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113851
Gene: ENSMUSG00000053175
AA Change: V139I

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,452,750 (GRCm39)	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,836,596 (GRCm39)	I421N	probably benign	Het
Ahnak	A	G	19: 8,993,520 (GRCm39)	I4935V	probably benign	Het
Atg12	A	C	18: 46,867,551 (GRCm39)	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bloc1s4	T	A	5: 36,905,689 (GRCm39)	M101L	probably benign	Het
Bmp6	C	T	13: 38,530,233 (GRCm39)	Q109*	probably null	Het
Cabyr	C	T	18: 12,877,656 (GRCm39)	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,932,538 (GRCm39)	S22P	probably benign	Het
Catsperg2	A	T	7: 29,412,406 (GRCm39)	C395S	probably null	Het
Cd101	T	C	3: 100,926,108 (GRCm39)	T208A	probably benign	Het
Chaf1a	A	G	17: 56,371,148 (GRCm39)	S678G	probably benign	Het
Chrna2	A	C	14: 66,388,484 (GRCm39)	I500L	probably benign	Het
Cln6	C	T	9: 62,758,039 (GRCm39)	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,659,963 (GRCm39)	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah10	A	G	5: 124,876,095 (GRCm39)	N2645D	probably damaging	Het
Dph5	T	A	3: 115,686,446 (GRCm39)	V74D	probably benign	Het
Dthd1	A	T	5: 63,000,435 (GRCm39)	I586L	probably damaging	Het
Elane	G	A	10: 79,722,879 (GRCm39)	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,587,398 (GRCm39)	T453A	probably damaging	Het
Fpr3	C	A	17: 18,191,227 (GRCm39)	T166K	probably damaging	Het
Fryl	A	G	5: 73,191,063 (GRCm39)	I2724T	probably benign	Het
Fsip2	C	T	2: 82,779,856 (GRCm39)	R201C	probably damaging	Het
Gm14496	T	A	2: 181,633,050 (GRCm39)	F11Y	possibly damaging	Het
Gm14496	A	G	2: 181,642,630 (GRCm39)	N767S	probably damaging	Het
Hyal4	T	A	6: 24,765,933 (GRCm39)	M429K	possibly damaging	Het
Itgad	A	T	7: 127,782,187 (GRCm39)	T208S	probably damaging	Het
Itpr3	T	G	17: 27,329,862 (GRCm39)	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,186 (GRCm39)	C292Y	probably damaging	Het
Kdr	T	C	5: 76,109,503 (GRCm39)	K958R	probably damaging	Het
Klhl22	T	A	16: 17,607,148 (GRCm39)	W485R	probably damaging	Het
Ldhb	T	A	6: 142,438,245 (GRCm39)	I271F	possibly damaging	Het
Lmo7	A	G	14: 102,122,737 (GRCm39)	R309G	probably damaging	Het
Marco	C	A	1: 120,402,395 (GRCm39)	C517F	probably damaging	Het
Mpdz	G	A	4: 81,221,891 (GRCm39)	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,218,600 (GRCm39)	S1410G	probably benign	Het
Ncor1	T	C	11: 62,292,091 (GRCm39)	N283S	probably damaging	Het
Nlrp14	T	A	7: 106,781,094 (GRCm39)	L97*	probably null	Het
Olfm3	T	G	3: 114,916,393 (GRCm39)	S442A	probably damaging	Het
Or10p1	A	G	10: 129,444,029 (GRCm39)	V107A	possibly damaging	Het
Or14j10	T	C	17: 37,935,392 (GRCm39)	I45V	probably damaging	Het
Or2ag12	T	C	7: 106,277,333 (GRCm39)	Y120C	probably damaging	Het
Or5a1	T	A	19: 12,097,375 (GRCm39)	S234C	probably benign	Het
Or5an10	T	C	19: 12,276,212 (GRCm39)	T95A	probably benign	Het
Pank4	G	A	4: 155,065,007 (GRCm39)	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,216,336 (GRCm39)	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,104,501 (GRCm39)	S911N	probably benign	Het
Prdx6b	A	G	2: 80,123,334 (GRCm39)	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,432,870 (GRCm39)	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,078,987 (GRCm39)	D9G		Het
Rpl13a	C	T	7: 44,776,466 (GRCm39)	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,582,342 (GRCm39)	I177F	probably damaging	Het
Rttn	C	A	18: 89,078,603 (GRCm39)	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,575,539 (GRCm39)	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,938,891 (GRCm39)	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,305,813 (GRCm39)	V277M	probably damaging	Het
Spata13	A	T	14: 60,989,298 (GRCm39)	Y988F	probably damaging	Het
Spata31e2	A	T	1: 26,724,351 (GRCm39)	N276K	probably benign	Het
Spo11	A	G	2: 172,833,864 (GRCm39)	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,422,998 (GRCm39)	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,744,029 (GRCm39)	W659*	probably null	Het
Thnsl2	T	C	6: 71,118,311 (GRCm39)	D39G	probably benign	Het
Thumpd1	A	T	7: 119,316,085 (GRCm39)	L288*	probably null	Het
Tram1l1	T	C	3: 124,115,556 (GRCm39)	Y239H	probably damaging	Het
Usp38	T	A	8: 81,708,601 (GRCm39)	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790 (GRCm39)	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,320,830 (GRCm39)	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,214,499 (GRCm39)	I218V	probably benign	Het
Xpr1	T	C	1: 155,183,488 (GRCm39)	I461V	probably benign	Het
Ydjc	T	C	16: 16,964,869 (GRCm39)	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,050,232 (GRCm39)	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,455,426 (GRCm39)	L1140P	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
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'- TGCCCTCTTGTCCCAGGATG -3'
(R):5'- GATGTGACAGTCTGACAGGG -3'

Sequencing Primer
(F):5'- ATGTGGATGCTGGCTCCC -3'
(R):5'- TGTGACAGTCTGACAGGGCAAATAG -3'

Posted On

2019-10-17