Incidental Mutation 'IGL01942:Bcl6b'
ID180877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl6b
Ensembl Gene ENSMUSG00000000317
Gene NameB cell CLL/lymphoma 6, member B
SynonymsBazf
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.211) question?
Stock #IGL01942
Quality Score
Status
Chromosome11
Chromosomal Location70224128-70229798 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70226743 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 379 (Y379F)
Ref Sequence ENSEMBL: ENSMUSP00000000326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000326] [ENSMUST00000153449]
Predicted Effect probably damaging
Transcript: ENSMUST00000000326
AA Change: Y379F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000326
Gene: ENSMUSG00000000317
AA Change: Y379F

DomainStartEndE-ValueType
BTB 38 135 2.17e-25 SMART
low complexity region 143 163 N/A INTRINSIC
ZnF_C2H2 323 345 4.11e-2 SMART
ZnF_C2H2 351 373 2.12e-4 SMART
ZnF_C2H2 379 401 8.34e-3 SMART
ZnF_C2H2 407 429 1.12e-3 SMART
ZnF_C2H2 435 458 1.33e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140542
Predicted Effect probably benign
Transcript: ENSMUST00000153449
SMART Domains Protein: ENSMUSP00000121365
Gene: ENSMUSG00000000317

DomainStartEndE-ValueType
BTB 38 116 2.14e-6 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display decreased CD4+ and CD8+ cell numbers in the thymus. Homozygous mice for one null allele display decreased secondary responses of memory CD8+ T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,986,573 R1017W possibly damaging Het
Arhgef26 A G 3: 62,340,094 R200G probably benign Het
Arid4b A T 13: 14,136,164 probably benign Het
Atp1a2 A C 1: 172,286,309 S369A probably benign Het
Bag3 T A 7: 128,546,300 D546E probably benign Het
Cbln2 T C 18: 86,716,325 V136A probably benign Het
Ccnf A T 17: 24,242,320 D120E probably benign Het
Cd14 T A 18: 36,725,640 H254L possibly damaging Het
Chd3 A G 11: 69,350,105 probably null Het
Csf2rb G A 15: 78,340,492 R150H probably benign Het
Dhx35 T C 2: 158,831,864 L405P probably damaging Het
Dpf1 G A 7: 29,316,502 C383Y probably damaging Het
Dse T A 10: 34,155,993 Q345L probably benign Het
Gnaz A G 10: 75,014,874 M244V probably damaging Het
Gpr65 A T 12: 98,275,715 Y209F possibly damaging Het
Inpp5f T C 7: 128,667,769 I281T probably damaging Het
Kntc1 T C 5: 123,778,267 F721S probably damaging Het
Mapk8ip2 G A 15: 89,457,017 probably null Het
Med24 G A 11: 98,709,682 R646W probably damaging Het
Nup98 A T 7: 102,194,711 F102Y probably damaging Het
Olfr1260 G T 2: 89,977,978 V67L probably benign Het
Olfr150 A T 9: 39,737,666 M284L possibly damaging Het
Olfr354 A G 2: 36,907,857 M304V probably benign Het
Pgap3 T C 11: 98,397,954 Y125C probably damaging Het
Rasl12 T C 9: 65,408,362 V96A probably damaging Het
Rbm20 G A 19: 53,813,443 M127I probably damaging Het
Rnf114 T A 2: 167,512,626 probably null Het
Serpinb1b C T 13: 33,085,311 T9I possibly damaging Het
Setd1b T A 5: 123,163,426 F16I possibly damaging Het
Slc25a28 A G 19: 43,664,508 F238S probably damaging Het
Slc2a2 T C 3: 28,705,803 V30A probably damaging Het
Slc35f4 T C 14: 49,525,505 probably benign Het
Socs4 T A 14: 47,290,650 C347* probably null Het
Spock1 C T 13: 57,430,328 E367K probably damaging Het
Ubap2 C T 4: 41,251,608 R8H probably benign Het
Vmn1r44 T A 6: 89,893,824 M41K probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp575 T C 7: 24,585,815 T134A possibly damaging Het
Other mutations in Bcl6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Bcl6b APN 11 70228484 unclassified probably benign
IGL02338:Bcl6b APN 11 70229092 missense probably damaging 1.00
IGL02725:Bcl6b APN 11 70228518 missense probably damaging 1.00
IGL02741:Bcl6b APN 11 70229116 missense probably damaging 0.99
R4407:Bcl6b UTSW 11 70226103 missense probably damaging 1.00
R5508:Bcl6b UTSW 11 70226093 missense probably damaging 1.00
R5998:Bcl6b UTSW 11 70228183 missense probably damaging 1.00
R6257:Bcl6b UTSW 11 70226052 missense probably benign
R6600:Bcl6b UTSW 11 70229128 missense probably damaging 1.00
R7107:Bcl6b UTSW 11 70226570 missense not run
Posted On2014-05-07