Incidental Mutation 'R4982:Bcl11b'
ID 384938
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4982 (G1)
Quality Score 176
Status Not validated
Chromosome 12
Chromosomal Location 107876662-107969861 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 107932031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 180 (C180*)
Ref Sequence ENSEMBL: ENSMUSP00000068258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066060] [ENSMUST00000109887] [ENSMUST00000109891]
AlphaFold Q99PV8
Predicted Effect probably null
Transcript: ENSMUST00000066060
AA Change: C180*
SMART Domains Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: C180*

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: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,242,348 (GRCm39) I1404L possibly damaging Het
Adra1b A G 11: 43,726,057 (GRCm39) S287P probably damaging Het
Atxn2 G T 5: 121,952,406 (GRCm39) A1280S possibly damaging Het
Bbip1 T C 19: 53,920,639 (GRCm39) probably null Het
Bbs2 A G 8: 94,808,982 (GRCm39) probably null Het
Bltp3a T C 17: 28,105,580 (GRCm39) F702S probably benign Het
Bod1l A G 5: 41,977,816 (GRCm39) V1166A probably benign Het
Bora C T 14: 99,284,788 (GRCm39) P13S probably damaging Het
C2cd4c T C 10: 79,449,075 (GRCm39) E24G probably benign Het
Ccne1 A T 7: 37,799,996 (GRCm39) I196N probably damaging Het
Chsy3 C T 18: 59,542,647 (GRCm39) S595L probably benign Het
Chsy3 T A 18: 59,542,839 (GRCm39) I659N possibly damaging Het
Cntrob T A 11: 69,202,188 (GRCm39) probably null Het
Col5a2 G A 1: 45,428,618 (GRCm39) P983S possibly damaging Het
Crat T A 2: 30,297,148 (GRCm39) probably null Het
Ctnnbl1 C T 2: 157,678,473 (GRCm39) H359Y probably benign Het
D430041D05Rik A G 2: 104,085,732 (GRCm39) V83A possibly damaging Het
Dixdc1 A G 9: 50,593,902 (GRCm39) S488P possibly damaging Het
Dmrta1 T C 4: 89,576,801 (GRCm39) C86R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Fam171a1 G A 2: 3,179,505 (GRCm39) probably null Het
Fam222b T C 11: 78,045,569 (GRCm39) C249R probably damaging Het
Fbxw18 T A 9: 109,531,719 (GRCm39) probably benign Het
Fes T C 7: 80,036,952 (GRCm39) Y44C probably damaging Het
Gimap6 A G 6: 48,684,933 (GRCm39) V51A probably benign Het
Gpr75 C T 11: 30,841,463 (GRCm39) L123F possibly damaging Het
Gpr75 C A 11: 30,841,462 (GRCm39) H122Q probably damaging Het
Greb1 A G 12: 16,774,762 (GRCm39) S212P probably damaging Het
Grin3a T C 4: 49,665,512 (GRCm39) H1041R probably benign Het
Ifna5 A G 4: 88,753,861 (GRCm39) N34D probably damaging Het
Ift140 A T 17: 25,255,968 (GRCm39) H221L probably damaging Het
Igsf3 T C 3: 101,342,983 (GRCm39) V540A probably benign Het
Il10ra A G 9: 45,180,357 (GRCm39) L5S probably damaging Het
Klra2 A T 6: 131,197,152 (GRCm39) D282E probably benign Het
Lyst T A 13: 13,900,539 (GRCm39) H3138Q probably damaging Het
Malrd1 A G 2: 16,046,940 (GRCm39) T1689A probably benign Het
Mon2 A T 10: 122,831,694 (GRCm39) L1671M probably damaging Het
Mpped1 T C 15: 83,720,528 (GRCm39) F71S probably damaging Het
Mtpap C A 18: 4,396,332 (GRCm39) H541Q probably benign Het
Muc5ac T A 7: 141,363,193 (GRCm39) probably benign Het
Mybbp1a T C 11: 72,336,040 (GRCm39) I451T probably damaging Het
Myh7 T A 14: 55,210,224 (GRCm39) E1827V probably damaging Het
Or1j14 A T 2: 36,417,409 (GRCm39) probably null Het
Or2h15 A T 17: 38,441,468 (GRCm39) I205N probably damaging Het
Or5p75-ps1 T A 7: 108,107,855 (GRCm39) Y197* probably null Het
Or8b8 C A 9: 37,808,811 (GRCm39) T37N probably damaging Het
Os9 C T 10: 126,956,920 (GRCm39) R23H possibly damaging Het
Otud6b A G 4: 14,815,607 (GRCm39) L261P probably damaging Het
Pcdhga2 A G 18: 37,802,476 (GRCm39) N107D probably benign Het
Pclo C T 5: 14,729,308 (GRCm39) probably benign Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phtf1 T A 3: 103,906,024 (GRCm39) S524T probably damaging Het
Pkdrej A C 15: 85,703,197 (GRCm39) L913R probably damaging Het
Pld1 C A 3: 28,085,447 (GRCm39) A201D probably damaging Het
Rorb T A 19: 18,955,052 (GRCm39) Q103L probably benign Het
Sec24d C T 3: 123,093,255 (GRCm39) T284M probably benign Het
Serpinb3b T C 1: 107,085,484 (GRCm39) I86V probably benign Het
Serpinb6a A T 13: 34,102,857 (GRCm39) M201K probably damaging Het
Snx8 A G 5: 140,337,989 (GRCm39) S219P probably benign Het
Sp8 C T 12: 118,812,160 (GRCm39) T5I probably damaging Het
Tanc1 A G 2: 59,630,287 (GRCm39) N749D probably damaging Het
Tarm1 G C 7: 3,537,612 (GRCm39) P284A probably damaging Het
Tbx15 A T 3: 99,161,390 (GRCm39) E65V probably benign Het
Ticam1 T A 17: 56,579,020 (GRCm39) H25L probably benign Het
Tmprss11g T A 5: 86,640,674 (GRCm39) L170F probably damaging Het
Tnfsf9 A G 17: 57,414,504 (GRCm39) *310W probably null Het
Tsks C T 7: 44,593,418 (GRCm39) T128I possibly damaging Het
Vmn1r175 A T 7: 23,508,494 (GRCm39) N44K possibly damaging Het
Vmn1r45 A G 6: 89,910,847 (GRCm39) I41T probably damaging Het
Ythdc2 A G 18: 45,004,532 (GRCm39) N1102S probably benign Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null 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
R0762:Bcl11b UTSW 12 107,931,922 (GRCm39) intron probably benign
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
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'- GTTGACATCTTTGGCACTTCTG -3'
(R):5'- AAGTCCCTTGTGCAGTCCAG -3'

Sequencing Primer
(F):5'- CACCCCGAAAAGCTTTTTGAGTG -3'
(R):5'- CACCACTGACCAGTCTT -3'
Posted On 2016-05-10