Incidental Mutation 'R0762:Bcl11b'
ID 72473
Institutional Source Beutler Lab
Gene Symbol Bcl11b
Ensembl Gene ENSMUSG00000048251
Gene Name B cell leukemia/lymphoma 11B
Synonyms COUP-TF interacting protein 2, Rit1, CTIP2, B630002E05Rik, 9130430L19Rik
MMRRC Submission 038942-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0762 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 107876662-107969861 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 107931922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066060] [ENSMUST00000109887] [ENSMUST00000109891]
AlphaFold Q99PV8
Predicted Effect probably benign
Transcript: ENSMUST00000066060
SMART Domains Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251

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
SMART Domains Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 93.9%
Validation Efficiency 100% (61/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,482,667 (GRCm39) N475I probably damaging Het
Adar T C 3: 89,647,290 (GRCm39) probably benign Het
Aldh3b3 A T 19: 4,015,747 (GRCm39) probably null Het
Amtn C T 5: 88,532,859 (GRCm39) T158I possibly damaging Het
Ap1g2 A G 14: 55,337,868 (GRCm39) probably benign Het
Arhgef3 A G 14: 27,119,584 (GRCm39) Y318C probably damaging Het
Atg2b A C 12: 105,641,229 (GRCm39) V69G possibly damaging Het
Bbx G A 16: 50,045,529 (GRCm39) T236I possibly damaging Het
Catsperg1 T C 7: 28,889,377 (GRCm39) I794V probably benign Het
Ccdc88a C T 11: 29,413,112 (GRCm39) probably benign Het
Cdhr3 C A 12: 33,110,300 (GRCm39) R328L probably benign Het
Ces2e T A 8: 105,656,496 (GRCm39) M242K probably damaging Het
Col12a1 A G 9: 79,588,656 (GRCm39) probably benign Het
Col3a1 T C 1: 45,360,686 (GRCm39) S39P unknown Het
Cplane1 A G 15: 8,247,900 (GRCm39) probably benign Het
Cyp2a5 T A 7: 26,538,298 (GRCm39) Y220* probably null Het
Dcc T A 18: 71,475,776 (GRCm39) probably benign Het
Dnajb8 A G 6: 88,200,036 (GRCm39) T191A probably damaging Het
Ephx2 A T 14: 66,339,628 (GRCm39) F199I probably damaging Het
Fancd2 A G 6: 113,551,619 (GRCm39) K1062E probably benign Het
Fbxo33 A G 12: 59,251,285 (GRCm39) V410A probably benign Het
Gars1 T G 6: 55,054,565 (GRCm39) probably null Het
Git1 A C 11: 77,390,660 (GRCm39) D132A possibly damaging Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Gucy1a1 T C 3: 82,002,203 (GRCm39) T44A unknown Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ifnlr1 A G 4: 135,428,640 (GRCm39) K156E possibly damaging Het
Klf13 T C 7: 63,541,371 (GRCm39) N15S probably benign Het
Krt77 T C 15: 101,769,561 (GRCm39) probably null Het
Ldc1 A G 4: 130,115,417 (GRCm39) S44P probably damaging Het
Map4 C A 9: 109,867,546 (GRCm39) probably benign Het
Mthfr T C 4: 148,139,900 (GRCm39) I623T possibly damaging Het
Myo7b T A 18: 32,116,997 (GRCm39) T908S probably benign Het
Nbeal2 T G 9: 110,472,876 (GRCm39) probably benign Het
Nwd2 T G 5: 63,957,757 (GRCm39) F362L probably benign Het
Pcm1 A T 8: 41,714,057 (GRCm39) R208W probably damaging Het
Pkd2l1 T C 19: 44,138,909 (GRCm39) D647G probably benign Het
Plbd1 C T 6: 136,618,145 (GRCm39) V24M probably damaging Het
Polr2a G A 11: 69,625,943 (GRCm39) P1698S unknown Het
Prss12 T C 3: 123,279,153 (GRCm39) I410T probably damaging Het
Ptpre A G 7: 135,280,964 (GRCm39) N565S probably damaging Het
Rab44 T C 17: 29,364,244 (GRCm39) L606P unknown Het
Rbm10 C T X: 20,503,903 (GRCm39) probably benign Het
Rhd C T 4: 134,603,612 (GRCm39) probably benign Het
Rspo3 T A 10: 29,375,917 (GRCm39) probably benign Het
Sdccag8 T A 1: 176,773,710 (GRCm39) N555K probably benign Het
Skint6 T A 4: 112,722,848 (GRCm39) probably benign Het
Slc22a20 G A 19: 6,036,036 (GRCm39) P45S probably damaging Het
Slc5a2 A G 7: 127,866,654 (GRCm39) Y124C probably damaging Het
Spats2l T C 1: 57,925,043 (GRCm39) L127P possibly damaging Het
Taar8a T A 10: 23,952,975 (GRCm39) I193N probably benign Het
Ten1 C T 11: 116,107,510 (GRCm39) probably benign Het
Tfb2m T C 1: 179,373,398 (GRCm39) E100G probably damaging Het
Tom1 C T 8: 75,778,934 (GRCm39) probably benign Het
Vps52 G T 17: 34,178,985 (GRCm39) R171L probably damaging Het
Zcwpw2 A T 9: 117,843,182 (GRCm39) noncoding transcript Het
Zfhx4 G A 3: 5,468,880 (GRCm39) E3013K probably damaging Het
Zfp267 G A 3: 36,220,016 (GRCm39) D680N possibly damaging Het
Zfp777 C T 6: 48,006,294 (GRCm39) V411M probably damaging Het
Other mutations in Bcl11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Bcl11b APN 12 107,932,074 (GRCm39) missense possibly damaging 0.46
IGL02492:Bcl11b APN 12 107,881,945 (GRCm39) missense probably damaging 0.98
IGL02559:Bcl11b APN 12 107,881,653 (GRCm39) utr 3 prime probably benign
IGL02950:Bcl11b APN 12 107,956,065 (GRCm39) missense probably benign 0.00
Acidophilus UTSW 12 107,883,562 (GRCm39) missense probably damaging 1.00
Activia UTSW 12 107,969,402 (GRCm39) start codon destroyed probably benign 0.21
hyphae UTSW 12 107,882,260 (GRCm39) missense probably benign 0.01
R0055:Bcl11b UTSW 12 107,932,036 (GRCm39) missense probably benign 0.02
R1549:Bcl11b UTSW 12 107,883,422 (GRCm39) missense probably damaging 0.97
R1682:Bcl11b UTSW 12 107,882,908 (GRCm39) missense probably damaging 1.00
R2269:Bcl11b UTSW 12 107,881,910 (GRCm39) missense possibly damaging 0.71
R2495:Bcl11b UTSW 12 107,881,706 (GRCm39) missense possibly damaging 0.46
R3053:Bcl11b UTSW 12 107,882,260 (GRCm39) missense probably benign 0.01
R4094:Bcl11b UTSW 12 107,883,094 (GRCm39) missense probably damaging 1.00
R4095:Bcl11b UTSW 12 107,883,094 (GRCm39) missense probably damaging 1.00
R4155:Bcl11b UTSW 12 107,883,684 (GRCm39) splice site probably null
R4156:Bcl11b UTSW 12 107,883,684 (GRCm39) splice site probably null
R4157:Bcl11b UTSW 12 107,883,684 (GRCm39) splice site probably null
R4611:Bcl11b UTSW 12 107,882,789 (GRCm39) missense probably damaging 0.97
R4900:Bcl11b UTSW 12 107,955,957 (GRCm39) missense probably damaging 1.00
R4906:Bcl11b UTSW 12 107,882,968 (GRCm39) missense probably damaging 1.00
R4982:Bcl11b UTSW 12 107,932,031 (GRCm39) nonsense probably null
R5108:Bcl11b UTSW 12 107,931,985 (GRCm39) missense probably benign 0.04
R5190:Bcl11b UTSW 12 107,955,975 (GRCm39) missense probably damaging 1.00
R6380:Bcl11b UTSW 12 107,969,360 (GRCm39) missense probably benign 0.20
R6423:Bcl11b UTSW 12 107,881,678 (GRCm39) missense possibly damaging 0.82
R6792:Bcl11b UTSW 12 107,955,993 (GRCm39) missense probably damaging 1.00
R7026:Bcl11b UTSW 12 107,882,851 (GRCm39) missense probably damaging 0.99
R7074:Bcl11b UTSW 12 107,955,766 (GRCm39) missense probably benign 0.01
R7371:Bcl11b UTSW 12 107,955,750 (GRCm39) missense probably damaging 1.00
R7454:Bcl11b UTSW 12 107,882,467 (GRCm39) missense possibly damaging 0.93
R7590:Bcl11b UTSW 12 107,969,402 (GRCm39) start codon destroyed probably benign 0.21
R8005:Bcl11b UTSW 12 107,882,456 (GRCm39) missense probably benign
R8131:Bcl11b UTSW 12 107,931,967 (GRCm39) missense probably benign
R8783:Bcl11b UTSW 12 107,883,562 (GRCm39) missense probably damaging 1.00
R8914:Bcl11b UTSW 12 107,883,163 (GRCm39) missense probably damaging 0.98
R9281:Bcl11b UTSW 12 107,882,257 (GRCm39) missense possibly damaging 0.96
R9566:Bcl11b UTSW 12 107,881,784 (GRCm39) missense possibly damaging 0.93
X0018:Bcl11b UTSW 12 107,955,948 (GRCm39) missense probably damaging 1.00
X0021:Bcl11b UTSW 12 107,883,136 (GRCm39) missense probably damaging 0.97
Z1177:Bcl11b UTSW 12 107,955,999 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAGCACTTTGAACGGCTCCAG -3'
(R):5'- AGGGCACCACTGACCAGTCTTTTC -3'

Sequencing Primer
(F):5'- CTGGGAACCGACACAGGTTAC -3'
(R):5'- ATCGATGGCCCCCATAGC -3'
Posted On 2013-09-30