Incidental Mutation 'R0124:Bcl3'
ID 21218
Institutional Source Beutler Lab
Gene Symbol Bcl3
Ensembl Gene ENSMUSG00000053175
Gene Name B cell leukemia/lymphoma 3
Synonyms Bcl-3
MMRRC Submission 038409-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0124 (G1)
Quality Score 196
Status Validated (trace)
Chromosome 7
Chromosomal Location 19808462-19822770 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19809651 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 5 (V5M)
Ref Sequence ENSEMBL: ENSMUSP00000117754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120537] [ENSMUST00000135609]
AlphaFold Q9Z2F6
Predicted Effect probably damaging
Transcript: ENSMUST00000120537
AA Change: V297M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113851
Gene: ENSMUSG00000053175
AA Change: V297M

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 probably damaging
Transcript: ENSMUST00000135609
AA Change: V5M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117754
Gene: ENSMUSG00000053175
AA Change: V5M

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
Meta Mutation Damage Score 0.4017 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.3%
  • 10x: 95.7%
  • 20x: 89.8%
Validation Efficiency 100% (67/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,161,674 (GRCm38) T194A probably benign Het
Afap1 C T 5: 35,945,209 (GRCm38) P82S probably damaging Het
Ankrd28 A G 14: 31,727,741 (GRCm38) Y481H probably damaging Het
Arid1b C T 17: 5,339,330 (GRCm38) T1717I probably damaging Het
Atad2b A G 12: 4,952,676 (GRCm38) K348R probably benign Het
B020004J07Rik A G 4: 101,835,373 (GRCm38) *477Q probably null Het
C2cd3 A G 7: 100,469,518 (GRCm38) E2321G probably benign Het
Casq1 C T 1: 172,210,425 (GRCm38) V380M probably damaging Het
Cd209e T A 8: 3,851,274 (GRCm38) T127S probably benign Het
Cdh23 G T 10: 60,308,056 (GRCm38) Y2921* probably null Het
Cdh6 A G 15: 13,034,324 (GRCm38) L750P probably damaging Het
Cdk12 T C 11: 98,211,247 (GRCm38) probably benign Het
Ces5a T C 8: 93,528,555 (GRCm38) E170G probably damaging Het
Clec4f A G 6: 83,652,353 (GRCm38) probably null Het
Col19a1 T C 1: 24,526,458 (GRCm38) N264S unknown Het
Col2a1 T A 15: 97,998,862 (GRCm38) I43F unknown Het
Col4a2 A G 8: 11,408,871 (GRCm38) probably benign Het
Csmd3 T A 15: 47,590,716 (GRCm38) D3578V probably damaging Het
Cyp2c37 T C 19: 39,994,102 (GRCm38) L128P probably damaging Het
Dysf A G 6: 84,065,102 (GRCm38) probably benign Het
Eml1 A G 12: 108,509,178 (GRCm38) Y256C probably damaging Het
Eml1 T C 12: 108,506,608 (GRCm38) V225A probably benign Het
Epb41l5 T A 1: 119,633,640 (GRCm38) K64* probably null Het
Fat2 A G 11: 55,283,678 (GRCm38) F2070L probably damaging Het
Fbxw18 G T 9: 109,691,515 (GRCm38) H259N probably benign Het
Gm10764 A T 10: 87,290,748 (GRCm38) T6S unknown Het
Gm14412 A G 2: 177,315,912 (GRCm38) probably benign Het
Heatr5b A T 17: 78,826,217 (GRCm38) probably benign Het
Hid1 T C 11: 115,356,823 (GRCm38) T250A probably damaging Het
Hnf4g A G 3: 3,643,082 (GRCm38) probably benign Het
Ifnar1 C T 16: 91,499,537 (GRCm38) Q309* probably null Het
Lrriq1 C T 10: 103,170,420 (GRCm38) probably null Het
Map3k13 A G 16: 21,903,756 (GRCm38) T223A possibly damaging Het
Matn2 C T 15: 34,426,151 (GRCm38) probably benign Het
Myo6 A G 9: 80,307,774 (GRCm38) E1253G probably damaging Het
Nomo1 G T 7: 46,083,228 (GRCm38) probably benign Het
Olfr1221 A T 2: 89,111,744 (GRCm38) I256K possibly damaging Het
Olfr160 A G 9: 37,711,463 (GRCm38) V272A possibly damaging Het
Olfr356 A T 2: 36,937,256 (GRCm38) I46F possibly damaging Het
Papolg C T 11: 23,867,535 (GRCm38) A582T probably benign Het
Plekhm3 C T 1: 64,921,751 (GRCm38) E449K probably damaging Het
Pole T G 5: 110,303,992 (GRCm38) M900R probably damaging Het
Ppp1cb T A 5: 32,483,478 (GRCm38) probably benign Het
Pros1 A G 16: 62,913,946 (GRCm38) T372A possibly damaging Het
Scara3 A T 14: 65,931,221 (GRCm38) S316T probably benign Het
St5 A G 7: 109,542,511 (GRCm38) S132P possibly damaging Het
Stau2 C T 1: 16,463,128 (GRCm38) A61T probably damaging Het
Stx3 T C 19: 11,791,799 (GRCm38) E54G possibly damaging Het
Sun1 T C 5: 139,246,679 (GRCm38) probably benign Het
Swt1 A T 1: 151,391,529 (GRCm38) C634S probably damaging Het
Syt6 A G 3: 103,587,526 (GRCm38) Y269C probably damaging Het
Tfap2a G A 13: 40,717,411 (GRCm38) probably benign Het
Tmx4 A T 2: 134,639,720 (GRCm38) probably null Het
Ttc39d T C 17: 80,216,946 (GRCm38) C345R probably damaging Het
Vmn1r27 T C 6: 58,215,248 (GRCm38) Y257C probably damaging Het
Vmn2r27 T A 6: 124,231,619 (GRCm38) T56S probably benign Het
Vps13b T C 15: 35,576,528 (GRCm38) probably null Het
Wdr17 A G 8: 54,635,491 (GRCm38) S1175P probably damaging Het
Wsb2 T C 5: 117,363,758 (GRCm38) F63L probably benign Het
Zfp142 A G 1: 74,568,623 (GRCm38) Y1561H 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
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
R1845:Bcl3 UTSW 7 19,809,627 (GRCm38) missense probably damaging 0.98
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 2013-04-11