Incidental Mutation 'R1845:Bcl3'
ID 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 7
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

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

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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2014-06-23