Incidental Mutation 'R0136:Bcl3'
ID 21951
Institutional Source Beutler Lab
Gene Symbol Bcl3
Ensembl Gene ENSMUSG00000053175
Gene Name B cell leukemia/lymphoma 3
Synonyms Bcl-3
MMRRC Submission 038421-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0136 (G1)
Quality Score 133
Status Validated (trace)
Chromosome 7
Chromosomal Location 19542387-19556691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19543494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 324 (V324A)
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: V324A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113851
Gene: ENSMUSG00000053175
AA Change: V324A

DomainStartEndE-ValueType
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: V32A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117754
Gene: ENSMUSG00000053175
AA Change: V32A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.3220 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 89% (56/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4b1 T C 3: 103,717,262 (GRCm39) M1T probably null Het
Arg2 T C 12: 79,196,780 (GRCm39) L167P probably damaging Het
Atxn1 A G 13: 45,720,645 (GRCm39) S417P probably damaging Het
Baz2b A G 2: 59,732,298 (GRCm39) V1949A probably benign Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Camta1 A G 4: 151,163,426 (GRCm39) S1479P probably damaging Het
Cd69 C T 6: 129,247,025 (GRCm39) S64N probably benign Het
Col5a1 T C 2: 27,914,843 (GRCm39) L153P probably damaging Het
Crat C A 2: 30,297,042 (GRCm39) V304L probably benign Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Fau T C 19: 6,109,210 (GRCm39) V86A possibly damaging Het
Garem1 T G 18: 21,263,048 (GRCm39) S589R probably damaging Het
Gbp3 T G 3: 142,269,862 (GRCm39) probably null Het
Gin1 T A 1: 97,710,741 (GRCm39) S141R possibly damaging Het
Gtf2h1 A T 7: 46,464,840 (GRCm39) Q419L possibly damaging Het
Hipk3 A G 2: 104,269,638 (GRCm39) I517T probably benign Het
Hivep2 T C 10: 14,007,622 (GRCm39) S1407P probably benign Het
Hnrnpk G T 13: 58,542,991 (GRCm39) D211E probably benign Het
Hnrnpul2 T C 19: 8,804,165 (GRCm39) L588P probably damaging Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Itgb1 T G 8: 129,449,335 (GRCm39) Y585D possibly damaging Het
Kmt2d C T 15: 98,752,159 (GRCm39) probably benign Het
Map7d1 A T 4: 126,130,424 (GRCm39) probably null Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Med13l A G 5: 118,862,115 (GRCm39) T353A probably benign Het
Mgat4b T C 11: 50,121,908 (GRCm39) V143A possibly damaging Het
Mlxip T A 5: 123,580,369 (GRCm39) W211R probably damaging Het
Morc2a T G 11: 3,635,907 (GRCm39) probably null Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Ndufa10 A T 1: 92,390,850 (GRCm39) Y233* probably null Het
Nek8 C T 11: 78,062,033 (GRCm39) S237N probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfatc2ip A G 7: 125,990,507 (GRCm39) S165P probably benign Het
Nsd2 A G 5: 34,012,880 (GRCm39) K404E possibly damaging Het
Nsd3 G T 8: 26,149,870 (GRCm39) E352* probably null Het
Nudt9 A G 5: 104,194,972 (GRCm39) T23A probably benign Het
Or1e34 T C 11: 73,778,611 (GRCm39) M196V probably benign Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Or8b57 A G 9: 40,003,315 (GRCm39) *312Q probably null Het
Patj C A 4: 98,555,885 (GRCm39) Q297K probably damaging Het
Pelo A T 13: 115,225,439 (GRCm39) C40* probably null Het
Pnpla3 G A 15: 84,058,679 (GRCm39) probably null Het
Pramel1 C A 4: 143,124,016 (GRCm39) N230K probably damaging Het
Psg20 A C 7: 18,416,432 (GRCm39) L228R probably damaging Het
Rsph10b T C 5: 143,896,639 (GRCm39) F44L probably benign Het
Septin2 G A 1: 93,434,772 (GRCm39) G358R possibly damaging Het
Slamf7 G A 1: 171,476,499 (GRCm39) probably benign Het
Slc12a8 A G 16: 33,428,583 (GRCm39) D297G probably damaging Het
Slc17a5 G A 9: 78,485,956 (GRCm39) A43V probably damaging Het
Slc22a1 A T 17: 12,881,483 (GRCm39) F335L probably benign Het
Slc26a5 T C 5: 22,039,345 (GRCm39) N216S probably damaging Het
Snrnp27 T C 6: 86,653,187 (GRCm39) S144G probably benign Het
Spata20 T A 11: 94,371,435 (GRCm39) D643V probably damaging Het
Spata24 T C 18: 35,793,515 (GRCm39) K99R probably damaging Het
Taar5 A G 10: 23,847,607 (GRCm39) Y335C probably damaging Het
Tpr A G 1: 150,306,346 (GRCm39) H1540R probably benign Het
Vmn1r27 A G 6: 58,192,704 (GRCm39) F100S possibly damaging Het
Vmn2r37 A T 7: 9,220,782 (GRCm39) Y360* probably null Het
Ybx1 C A 4: 119,139,551 (GRCm39) R36L possibly damaging Het
Zfp369 A G 13: 65,445,016 (GRCm39) K720E probably benign Het
Zfp599 A G 9: 22,161,038 (GRCm39) S376P probably benign Het
Zic2 A G 14: 122,713,953 (GRCm39) E289G probably damaging Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign Het
Other mutations in Bcl3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
RF022:Bcl3 UTSW 7 19,542,966 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCCAAGGCCATTGCGACCTTTATTC -3'
(R):5'- TTTGACACAGCCCCATGTCCAG -3'

Sequencing Primer
(F):5'- ACCAAAGTGTCCCGGTGAG -3'
(R):5'- CCATGTCCAGAATCATTTCAGG -3'
Posted On 2013-04-12