Incidental Mutation 'IGL02950:Bcl11b'
ID364921
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl11b
Ensembl Gene ENSMUSG00000048251
Gene NameB cell leukemia/lymphoma 11B
Synonyms9130430L19Rik, CTIP2, B630002E05Rik, COUP-TF interacting protein 2, Rit1
Accession Numbers

Genbank: NM_001079883; MGI: 1929913

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02950
Quality Score
Status
Chromosome12
Chromosomal Location107910403-108003602 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 107989806 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 28 (T28I)
Ref Sequence ENSEMBL: ENSMUSP00000105517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066060] [ENSMUST00000109887] [ENSMUST00000109891]
Predicted Effect probably benign
Transcript: ENSMUST00000066060
AA Change: T28I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: T28I

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
Blast:ZnF_C2H2 56 81 5e-10 BLAST
low complexity region 95 113 N/A INTRINSIC
ZnF_C2H2 221 244 1.16e-1 SMART
low complexity region 311 330 N/A INTRINSIC
ZnF_C2H2 426 448 6.23e-2 SMART
ZnF_C2H2 454 476 2.75e-3 SMART
low complexity region 519 551 N/A INTRINSIC
low complexity region 566 593 N/A INTRINSIC
low complexity region 617 636 N/A INTRINSIC
low complexity region 639 656 N/A INTRINSIC
low complexity region 659 675 N/A INTRINSIC
low complexity region 743 765 N/A INTRINSIC
ZnF_C2H2 786 808 1.41e0 SMART
ZnF_C2H2 814 836 4.24e-4 SMART
ZnF_C2H2 844 867 3.07e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109887
SMART Domains Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251

DomainStartEndE-ValueType
ZnF_C2H2 27 50 1.16e-1 SMART
low complexity region 117 136 N/A INTRINSIC
ZnF_C2H2 232 254 6.23e-2 SMART
ZnF_C2H2 260 282 2.75e-3 SMART
low complexity region 325 357 N/A INTRINSIC
low complexity region 372 399 N/A INTRINSIC
low complexity region 423 442 N/A INTRINSIC
low complexity region 445 462 N/A INTRINSIC
low complexity region 465 481 N/A INTRINSIC
low complexity region 549 571 N/A INTRINSIC
ZnF_C2H2 592 614 1.41e0 SMART
ZnF_C2H2 620 642 4.24e-4 SMART
ZnF_C2H2 650 673 3.07e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109891
AA Change: T28I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: T28I

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
Pfam:zf-C2H2_6 55 83 3.9e-9 PFAM
low complexity region 95 113 N/A INTRINSIC
ZnF_C2H2 149 172 1.16e-1 SMART
low complexity region 239 258 N/A INTRINSIC
ZnF_C2H2 354 376 6.23e-2 SMART
ZnF_C2H2 382 404 2.75e-3 SMART
low complexity region 447 479 N/A INTRINSIC
low complexity region 494 521 N/A INTRINSIC
low complexity region 545 564 N/A INTRINSIC
low complexity region 567 584 N/A INTRINSIC
low complexity region 587 603 N/A INTRINSIC
low complexity region 671 693 N/A INTRINSIC
ZnF_C2H2 714 736 1.41e0 SMART
ZnF_C2H2 742 764 4.24e-4 SMART
ZnF_C2H2 772 795 3.07e-1 SMART
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 encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Animals homozygous for a mutation of this gene are born with open eyes, exhibit abnormalities of the thymus, and die within 1 day after birth. Mice heterozygous for a hypomorphic allele and a knock-out allele exhibit lethality at weaning due to maxillaryincisor hyperplasia. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,825,967 S1129C possibly damaging Het
Afm A T 5: 90,531,607 D320V probably damaging Het
Ap5m1 C T 14: 49,073,935 T154I probably benign Het
Bhlhe40 G T 6: 108,664,542 C149F probably damaging Het
Bmper A T 9: 23,399,494 D408V probably damaging Het
C1rl G A 6: 124,508,861 C397Y probably damaging Het
C2cd4c A G 10: 79,612,831 S161P probably damaging Het
C87977 A G 4: 144,212,961 V2A probably benign Het
Cep290 T C 10: 100,540,329 probably benign Het
Cp T C 3: 19,988,001 Y978H probably damaging Het
Csf2ra T C 19: 61,227,169 D37G probably benign Het
Ddx24 A G 12: 103,417,542 V596A probably damaging Het
Dnmt3l A G 10: 78,050,951 S82G probably benign Het
Dock1 A G 7: 134,730,024 Y46C probably damaging Het
Eno2 A T 6: 124,763,118 D318E probably damaging Het
Gm43738 A C 3: 89,089,048 L120R probably damaging Het
Hgsnat C A 8: 25,971,701 C29F probably damaging Het
Hltf T A 3: 20,076,572 V318D probably benign Het
Kcnh8 A G 17: 52,956,767 H764R probably benign Het
Kcnq3 A G 15: 66,020,293 F411S probably benign Het
Lpcat4 C A 2: 112,244,042 N287K possibly damaging Het
Ltbp4 A C 7: 27,306,718 F1512V probably damaging Het
Mctp1 A T 13: 77,024,810 L868F probably damaging Het
Mdn1 T C 4: 32,713,360 probably benign Het
Olfr1000 A T 2: 85,608,157 L251Q possibly damaging Het
Otub2 A G 12: 103,403,373 D237G probably damaging Het
Pax3 A G 1: 78,103,360 V463A probably benign Het
Podn T C 4: 108,017,851 K573R possibly damaging Het
Ppp5c A C 7: 17,006,910 S378A probably benign Het
Prl2a1 T A 13: 27,804,931 L13Q probably damaging Het
Ptgir A G 7: 16,907,601 T70A probably damaging Het
Ralyl C A 3: 14,039,721 N15K probably damaging Het
Rbck1 C T 2: 152,331,077 R17Q possibly damaging Het
Ryr1 A G 7: 29,097,459 Y973H probably damaging Het
Sh2d6 A G 6: 72,515,302 V260A probably damaging Het
Spen G A 4: 141,469,508 P3559S probably damaging Het
Tbcd T A 11: 121,603,709 V1032D probably damaging Het
Tmem2 A T 19: 21,842,200 K1118N probably benign Het
Trav12-1 T A 14: 53,538,567 V59E probably damaging Het
Unc93a T A 17: 13,125,568 Q29L probably damaging Het
Zzef1 A G 11: 72,917,699 probably benign Het
Other mutations in Bcl11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Bcl11b APN 12 107965815 missense possibly damaging 0.46
IGL02492:Bcl11b APN 12 107915686 missense probably damaging 0.98
IGL02559:Bcl11b APN 12 107915394 utr 3 prime probably benign
R0055:Bcl11b UTSW 12 107965777 missense probably benign 0.02
R0762:Bcl11b UTSW 12 107965663 intron probably benign
R1549:Bcl11b UTSW 12 107917163 missense probably damaging 0.97
R1682:Bcl11b UTSW 12 107916649 missense probably damaging 1.00
R2269:Bcl11b UTSW 12 107915651 missense possibly damaging 0.71
R2495:Bcl11b UTSW 12 107915447 missense possibly damaging 0.46
R3053:Bcl11b UTSW 12 107916001 missense probably benign 0.01
R4094:Bcl11b UTSW 12 107916835 missense probably damaging 1.00
R4095:Bcl11b UTSW 12 107916835 missense probably damaging 1.00
R4155:Bcl11b UTSW 12 107917425 splice site probably null
R4156:Bcl11b UTSW 12 107917425 splice site probably null
R4157:Bcl11b UTSW 12 107917425 splice site probably null
R4611:Bcl11b UTSW 12 107916530 missense probably damaging 0.97
R4900:Bcl11b UTSW 12 107989698 missense probably damaging 1.00
R4906:Bcl11b UTSW 12 107916709 missense probably damaging 1.00
R4982:Bcl11b UTSW 12 107965772 nonsense probably null
R5108:Bcl11b UTSW 12 107965726 missense probably benign 0.04
R5190:Bcl11b UTSW 12 107989716 missense probably damaging 1.00
R6380:Bcl11b UTSW 12 108003101 missense probably benign 0.20
R6423:Bcl11b UTSW 12 107915419 missense possibly damaging 0.82
R6792:Bcl11b UTSW 12 107989734 missense probably damaging 1.00
R7026:Bcl11b UTSW 12 107916592 missense probably damaging 0.99
R7074:Bcl11b UTSW 12 107989507 missense probably benign 0.01
R7371:Bcl11b UTSW 12 107989491 missense probably damaging 1.00
R7454:Bcl11b UTSW 12 107916208 missense possibly damaging 0.93
R7590:Bcl11b UTSW 12 108003143 start codon destroyed probably benign 0.21
R8005:Bcl11b UTSW 12 107916197 missense probably benign
X0018:Bcl11b UTSW 12 107989689 missense probably damaging 1.00
X0021:Bcl11b UTSW 12 107916877 missense probably damaging 0.97
Z1177:Bcl11b UTSW 12 107989740 missense probably damaging 0.99
Posted On2015-12-18