Incidental Mutation 'IGL03024:Bcl3'
ID 408110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl3
Ensembl Gene ENSMUSG00000053175
Gene Name B cell leukemia/lymphoma 3
Synonyms Bcl-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03024
Quality Score
Status
Chromosome 7
Chromosomal Location 19542387-19556691 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 19543059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120537] [ENSMUST00000135609]
AlphaFold Q9Z2F6
Predicted Effect probably benign
Transcript: ENSMUST00000120537
SMART Domains Protein: ENSMUSP00000113851
Gene: ENSMUSG00000053175

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 probably benign
Transcript: ENSMUST00000135609
SMART Domains Protein: ENSMUSP00000117754
Gene: ENSMUSG00000053175

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
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,212,464 (GRCm39) F257L probably benign Het
Aaas A G 15: 102,258,926 (GRCm39) probably benign Het
AI661453 C T 17: 47,757,513 (GRCm39) R57W probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bahd1 T C 2: 118,746,597 (GRCm39) V72A probably damaging Het
Blnk A T 19: 40,982,445 (GRCm39) probably benign Het
Cd81 T C 7: 142,621,089 (GRCm39) I230T probably benign Het
Cdc20b A T 13: 113,227,576 (GRCm39) R485S possibly damaging Het
Cenpp C A 13: 49,617,730 (GRCm39) A273S probably benign Het
Cep295 A G 9: 15,236,868 (GRCm39) V2022A probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cfap61 C A 2: 145,781,919 (GRCm39) probably benign Het
Col8a1 T A 16: 57,448,727 (GRCm39) H261L unknown Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
D930020B18Rik T C 10: 121,521,527 (GRCm39) probably benign Het
Dhdds A T 4: 133,710,160 (GRCm39) L203Q probably damaging Het
Dusp6 A G 10: 99,102,156 (GRCm39) T381A probably damaging Het
Elp1 A G 4: 56,774,686 (GRCm39) probably null Het
Fnbp4 A G 2: 90,581,523 (GRCm39) D192G probably benign Het
Gbp2 G T 3: 142,337,780 (GRCm39) V299F probably damaging Het
Gfpt1 G T 6: 87,030,813 (GRCm39) V66F probably damaging Het
Heatr1 T C 13: 12,422,390 (GRCm39) probably benign Het
Irf8 T A 8: 121,480,097 (GRCm39) S112T probably damaging Het
Jmy G T 13: 93,635,707 (GRCm39) N36K probably damaging Het
Kcnt2 T C 1: 140,498,193 (GRCm39) I866T probably benign Het
Kif1c A T 11: 70,596,015 (GRCm39) M210L probably damaging Het
Kng1 G A 16: 22,893,442 (GRCm39) V272I possibly damaging Het
Lrig2 A C 3: 104,401,389 (GRCm39) M166R probably damaging Het
Mastl A G 2: 23,029,931 (GRCm39) L265P probably damaging Het
Mmp27 A G 9: 7,581,377 (GRCm39) T547A probably benign Het
Myh4 T C 11: 67,139,305 (GRCm39) C541R probably damaging Het
Naip2 A T 13: 100,325,862 (GRCm39) F15L possibly damaging Het
Nipal1 G T 5: 72,820,968 (GRCm39) probably null Het
Nrp2 A T 1: 62,810,893 (GRCm39) N645Y probably damaging Het
Or1j19 T A 2: 36,676,858 (GRCm39) F107Y possibly damaging Het
Or4g17 T A 2: 111,209,935 (GRCm39) F197I possibly damaging Het
Or7d9 T A 9: 20,197,280 (GRCm39) M103K probably benign Het
Plcl1 T A 1: 55,734,946 (GRCm39) S96T probably damaging Het
Prl2c1 A C 13: 28,040,524 (GRCm39) D139A probably benign Het
Prmt5 A T 14: 54,754,055 (GRCm39) M43K possibly damaging Het
Ptpn21 T A 12: 98,646,315 (GRCm39) M1048L probably benign Het
Ptprq T C 10: 107,521,427 (GRCm39) E653G possibly damaging Het
Rbm6 A G 9: 107,664,567 (GRCm39) S689P probably damaging Het
Rtn3 A G 19: 7,460,455 (GRCm39) probably benign Het
Shoc2 T C 19: 53,991,458 (GRCm39) I241T probably benign Het
Sipa1 A T 19: 5,706,189 (GRCm39) D380E probably damaging Het
Slc1a6 T C 10: 78,650,442 (GRCm39) V560A probably benign Het
Speer2 T C 16: 69,655,003 (GRCm39) H154R possibly damaging Het
Tlk1 A T 2: 70,576,380 (GRCm39) C247* probably null Het
Trim15 A G 17: 37,177,785 (GRCm39) L70P probably damaging Het
Ttc9b T C 7: 27,354,358 (GRCm39) L148P probably damaging Het
Vwa8 C T 14: 79,232,538 (GRCm39) P627S 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
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
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
Posted On 2016-08-02