Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Bcl3'

207641

Institutional Source

Beutler Lab

Gene Symbol

Bcl3

Ensembl Gene

ENSMUSG00000053175

Gene Name

B cell leukemia/lymphoma 3

Synonyms

Bcl-3

MMRRC Submission

039870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1845 (G1)

Quality Score

124

Status

Not validated

Chromosome

Chromosomal Location

19808462-19822770 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 19809627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 305 (S305R)

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: S305R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113851
Gene: ENSMUSG00000053175
AA Change: S305R

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

possibly damaging
Transcript: ENSMUST00000135609
AA Change: S13R

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117754
Gene: ENSMUSG00000053175
AA Change: S13R

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: 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: ENSMUST00000152768

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	CGGG	CGGGGGG	15: 76,949,663 (GRCm38)		probably benign	Het
Abca17	A	T	17: 24,267,716 (GRCm38)	C1446S	probably damaging	Het
Asb16	C	A	11: 102,276,756 (GRCm38)	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,376,544 (GRCm38)	V384I	possibly damaging	Het
BC024139	A	T	15: 76,125,261 (GRCm38)	L207*	probably null	Het
Cachd1	T	C	4: 100,777,358 (GRCm38)	V77A	probably benign	Het
Cd101	C	T	3: 101,029,448 (GRCm38)		probably null	Het
Cela1	T	C	15: 100,685,167 (GRCm38)	N64S	probably benign	Het
Cep128	T	C	12: 91,289,598 (GRCm38)	D366G	probably benign	Het
Col12a1	A	G	9: 79,697,541 (GRCm38)	V675A	probably benign	Het
Copg1	A	G	6: 87,893,818 (GRCm38)	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,487,917 (GRCm38)	R372G	probably benign	Het
Dcaf1	A	C	9: 106,851,962 (GRCm38)	I567L	probably benign	Het
Dcn	A	G	10: 97,506,674 (GRCm38)	D164G	probably benign	Het
Dnase2a	T	A	8: 84,909,322 (GRCm38)	H113Q	probably benign	Het
Espl1	T	C	15: 102,299,013 (GRCm38)	V304A	probably benign	Het
Fam193a	A	G	5: 34,443,372 (GRCm38)	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,531,035 (GRCm38)		probably null	Het
Foxp4	T	A	17: 47,877,959 (GRCm38)	T321S	probably null	Het
Fut10	A	G	8: 31,236,300 (GRCm38)	N361S	probably damaging	Het
Gm13762	A	G	2: 88,973,138 (GRCm38)	V251A	probably benign	Het
Gyg1	A	T	3: 20,151,122 (GRCm38)	V94D	probably damaging	Het
Has2	T	C	15: 56,668,578 (GRCm38)	K247R	probably damaging	Het
Helz2	G	T	2: 181,232,085 (GRCm38)	D2205E	probably benign	Het
Hps6	T	A	19: 46,004,970 (GRCm38)	S449T	probably benign	Het
Ints10	T	C	8: 68,794,671 (GRCm38)	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,356,961 (GRCm38)	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,303,810 (GRCm38)	V280A	possibly damaging	Het
Klk1b5	A	G	7: 44,220,125 (GRCm38)	M210V	probably benign	Het
Kmt2c	G	A	5: 25,373,436 (GRCm38)	A614V	probably benign	Het
Lck	T	A	4: 129,558,086 (GRCm38)	I45F	probably benign	Het
Lin7a	A	C	10: 107,412,059 (GRCm38)	E75A	probably damaging	Het
Lrp1	A	T	10: 127,578,673 (GRCm38)	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 24,914,583 (GRCm38)	N289K	probably benign	Het
Mbtps1	T	C	8: 119,522,493 (GRCm38)	D686G	probably benign	Het
Mknk1	T	A	4: 115,873,231 (GRCm38)	C178*	probably null	Het
Mtmr6	A	G	14: 60,296,735 (GRCm38)	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,840,157 (GRCm38)		probably null	Het
Myh6	T	C	14: 54,944,674 (GRCm38)	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,635,531 (GRCm38)	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,927,041 (GRCm38)	F30S	probably damaging	Het
Nop14	G	T	5: 34,650,328 (GRCm38)	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,707,353 (GRCm38)	R314W	probably damaging	Het
Or1j18	A	T	2: 36,734,842 (GRCm38)	I174F	probably damaging	Het
Or4c107	A	G	2: 88,958,867 (GRCm38)	I134V	probably damaging	Het
Or6c205	A	G	10: 129,250,594 (GRCm38)	E20G	probably benign	Het
Or6c88	A	T	10: 129,571,348 (GRCm38)	Q231L	probably damaging	Het
Or7g17	A	T	9: 18,857,486 (GRCm38)	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 97,059,128 (GRCm38)	S378R	probably damaging	Het
Otof	A	T	5: 30,371,723 (GRCm38)	Y1775*	probably null	Het
Parp16	T	C	9: 65,215,594 (GRCm38)	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pi16	A	T	17: 29,319,387 (GRCm38)	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,539,452 (GRCm38)	M190I	probably benign	Het
Plscr4	T	G	9: 92,490,046 (GRCm38)	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,723,806 (GRCm38)	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,368,611 (GRCm38)	L15Q	probably damaging	Het
Prorp	T	A	12: 55,304,332 (GRCm38)	I142N	possibly damaging	Het
Ptpn14	C	A	1: 189,839,502 (GRCm38)	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,954,899 (GRCm38)	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,497,070 (GRCm38)	Y342*	probably null	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Sltm	A	G	9: 70,543,032 (GRCm38)	N38S	possibly damaging	Het
Smg1	T	C	7: 118,154,622 (GRCm38)		probably benign	Het
Spsb1	A	T	4: 149,906,910 (GRCm38)	V67E	probably damaging	Het
Suox	A	G	10: 128,670,539 (GRCm38)	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,911,085 (GRCm38)	I483N	probably damaging	Het
Tbcb	A	T	7: 30,224,499 (GRCm38)	D198E	possibly damaging	Het
Tbce	T	C	13: 14,019,709 (GRCm38)	K122E	probably benign	Het
Tcap	T	A	11: 98,384,379 (GRCm38)	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,041 (GRCm38)	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,374,503 (GRCm38)	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,579,943 (GRCm38)	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,431,355 (GRCm38)	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,458,903 (GRCm38)	W1103R	probably damaging	Het
Ttn	C	T	2: 76,764,033 (GRCm38)	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,812,738 (GRCm38)	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,454,554 (GRCm38)	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,001,995 (GRCm38)	Y394*	probably null	Het
Zfp212	T	C	6: 47,931,541 (GRCm38)	S485P	probably benign	Het
Zfp512b	A	T	2: 181,585,735 (GRCm38)	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,671,741 (GRCm38)	Y974H	probably damaging	Het

Other mutations in Bcl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Bcl3	APN	7	19,809,614 (GRCm38)	missense	probably damaging	1.00
IGL01669:Bcl3	APN	7	19,812,491 (GRCm38)	nonsense	probably null
IGL03024:Bcl3	APN	7	19,809,134 (GRCm38)	splice site	probably benign
Memorial	UTSW	7	19,812,484 (GRCm38)	missense	probably damaging	1.00
sunrise	UTSW	7	19,811,580 (GRCm38)	nonsense	probably null
sunrise2	UTSW	7	19,809,634 (GRCm38)	nonsense	probably null
R0124:Bcl3	UTSW	7	19,809,651 (GRCm38)	missense	probably damaging	1.00
R0136:Bcl3	UTSW	7	19,809,569 (GRCm38)	missense	probably damaging	1.00
R0554:Bcl3	UTSW	7	19,820,066 (GRCm38)	missense	probably benign	0.26
R2571:Bcl3	UTSW	7	19,809,527 (GRCm38)	missense	probably damaging	1.00
R4355:Bcl3	UTSW	7	19,811,580 (GRCm38)	nonsense	probably null
R4597:Bcl3	UTSW	7	19,812,503 (GRCm38)	missense	probably damaging	0.97
R4993:Bcl3	UTSW	7	19,820,177 (GRCm38)	missense	probably benign	0.00
R5587:Bcl3	UTSW	7	19,809,634 (GRCm38)	nonsense	probably null
R6232:Bcl3	UTSW	7	19,812,484 (GRCm38)	missense	probably damaging	1.00
R7439:Bcl3	UTSW	7	19,822,611 (GRCm38)	missense	probably benign
R7565:Bcl3	UTSW	7	19,812,494 (GRCm38)	missense	probably damaging	1.00
R8443:Bcl3	UTSW	7	19,820,157 (GRCm38)	missense	probably benign	0.01
R9105:Bcl3	UTSW	7	19,809,250 (GRCm38)	missense	probably damaging	1.00
R9500:Bcl3	UTSW	7	19,822,677 (GRCm38)	start codon destroyed	probably null	0.14
R9540:Bcl3	UTSW	7	19,822,520 (GRCm38)	missense	probably benign	0.09
RF022:Bcl3	UTSW	7	19,809,041 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGTTACCTTGCCGGCCTAAG -3'
(R):5'- TTTGACACAGCCCCATGTC -3'

Sequencing Primer
(F):5'- TTGCCGGCCTAAGCTCACTG -3'
(R):5'- CCATGTCCAGAATCATTTCAGG -3'

Posted On

2014-06-23