Incidental Mutation 'R9281:Bcl11b'
ID 703648
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9281 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 107876662-107969861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107882257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 686 (L686P)
Ref Sequence ENSEMBL: ENSMUSP00000068258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066060] [ENSMUST00000109887] [ENSMUST00000109891]
AlphaFold Q99PV8
Predicted Effect possibly damaging
Transcript: ENSMUST00000066060
AA Change: L686P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: L686P

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 unknown
Transcript: ENSMUST00000109887
AA Change: L492P
SMART Domains Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251
AA Change: L492P

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 damaging
Transcript: ENSMUST00000109891
AA Change: L614P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: L614P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,274,184 (GRCm39) I102M possibly damaging Het
2700049A03Rik G A 12: 71,205,687 (GRCm39) V444I possibly damaging Het
Afdn T A 17: 14,024,270 (GRCm39) C59S probably damaging Het
Ano1 A T 7: 144,149,318 (GRCm39) Y848N probably damaging Het
Arap2 C T 5: 62,906,848 (GRCm39) R57H probably damaging Het
Atp10b C T 11: 43,116,458 (GRCm39) T935I probably benign Het
Bmp5 T C 9: 75,683,856 (GRCm39) V161A probably benign Het
C1qtnf3 A G 15: 10,978,607 (GRCm39) E196G probably benign Het
Cacng8 T A 7: 3,460,608 (GRCm39) F130L probably damaging Het
Cap1 A G 4: 122,766,226 (GRCm39) M4T probably benign Het
Ccdc57 T C 11: 120,751,413 (GRCm39) K886E probably benign Het
Cdhr2 A C 13: 54,881,703 (GRCm39) T1112P possibly damaging Het
Clcn4 A T 7: 7,294,813 (GRCm39) M316K probably benign Het
Col22a1 A T 15: 71,732,920 (GRCm39) D1099E unknown Het
Csmd3 A C 15: 47,460,272 (GRCm39) N2595K Het
Ctdspl2 A G 2: 121,841,063 (GRCm39) H451R probably benign Het
Cybrd1 A T 2: 70,968,735 (GRCm39) T203S probably benign Het
Dhx29 A G 13: 113,078,240 (GRCm39) N312S possibly damaging Het
Dhx30 A T 9: 109,929,983 (GRCm39) S38T probably benign Het
Dync2i1 G A 12: 116,211,677 (GRCm39) R277* probably null Het
Ercc8 G T 13: 108,320,364 (GRCm39) A317S probably benign Het
Fndc3a T C 14: 72,799,097 (GRCm39) T629A probably benign Het
Frmpd1 G T 4: 45,284,127 (GRCm39) A983S probably benign Het
Gm14325 T A 2: 177,473,597 (GRCm39) Y495F probably damaging Het
Gm5773 A T 3: 93,680,891 (GRCm39) T188S probably benign Het
Gpsm1 C A 2: 26,214,488 (GRCm39) N243K probably damaging Het
Inpp4a C G 1: 37,410,850 (GRCm39) H339Q probably damaging Het
Kat2b A G 17: 53,931,425 (GRCm39) D141G probably benign Het
Kdm4a A G 4: 117,995,728 (GRCm39) V1003A probably damaging Het
Lrrc25 T A 8: 71,073,246 (GRCm39) M276K probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mcmdc2 G A 1: 9,994,425 (GRCm39) G406D probably damaging Het
Mfhas1 G T 8: 36,057,951 (GRCm39) A809S probably benign Het
Mier2 A T 10: 79,378,294 (GRCm39) D376E probably benign Het
Mllt3 A C 4: 87,707,566 (GRCm39) H464Q probably benign Het
Mtrex A T 13: 113,046,443 (GRCm39) C302* probably null Het
Myo6 T A 9: 80,162,164 (GRCm39) Y300* probably null Het
Myzap T C 9: 71,493,482 (GRCm39) D31G unknown Het
Nfatc1 T C 18: 80,741,190 (GRCm39) Y270C probably damaging Het
Nsd3 T C 8: 26,152,961 (GRCm39) S434P probably benign Het
Or13p3 A G 4: 118,566,592 (GRCm39) probably benign Het
Or1e26 T A 11: 73,480,133 (GRCm39) M144L probably benign Het
Osbp2 T A 11: 3,813,375 (GRCm39) T165S probably benign Het
Plxna1 A G 6: 89,300,313 (GRCm39) V1590A probably damaging Het
Pramel7 A G 2: 87,321,495 (GRCm39) L180P probably damaging Het
Prkd1 C T 12: 50,536,758 (GRCm39) D109N probably benign Het
Ptger3 A G 3: 157,273,090 (GRCm39) M146V probably benign Het
Pts A G 9: 50,433,853 (GRCm39) V96A probably damaging Het
Rab11fip5 T C 6: 85,318,834 (GRCm39) E685G probably benign Het
Rab27a C T 9: 72,992,278 (GRCm39) T102I probably damaging Het
Reln A G 5: 22,153,545 (GRCm39) L2253P probably damaging Het
Rock1 C T 18: 10,080,479 (GRCm39) A1022T probably benign Het
Rspry1 T A 8: 95,363,259 (GRCm39) N259K probably damaging Het
Sdha A T 13: 74,472,056 (GRCm39) Y604* probably null Het
Slc12a6 A G 2: 112,164,754 (GRCm39) N151S probably benign Het
Slc26a5 T A 5: 22,019,051 (GRCm39) D596V probably benign Het
Snrpa A G 7: 26,891,051 (GRCm39) V140A probably benign Het
Spta1 T G 1: 174,047,444 (GRCm39) V1696G probably damaging Het
St13 A T 15: 81,261,927 (GRCm39) D179E probably damaging Het
Stpg4 T C 17: 87,702,671 (GRCm39) D182G probably benign Het
Synm A T 7: 67,386,048 (GRCm39) L538* probably null Het
Tigar A T 6: 127,068,157 (GRCm39) L87H probably damaging Het
Tmem67 C A 4: 12,079,962 (GRCm39) V110F possibly damaging Het
Trav6n-5 T A 14: 53,342,744 (GRCm39) L94* probably null Het
Ttf1 A G 2: 28,955,902 (GRCm39) H422R probably benign Het
Ttn A G 2: 76,619,926 (GRCm39) V15914A probably damaging Het
Vmn2r13 C A 5: 109,303,953 (GRCm39) C826F probably damaging Het
Wwc1 C G 11: 35,780,211 (GRCm39) G248A probably benign Het
Zfp120 G A 2: 149,959,615 (GRCm39) H258Y probably damaging Het
Zfp142 A G 1: 74,607,731 (GRCm39) Y1681H probably damaging Het
Zkscan3 A G 13: 21,579,045 (GRCm39) L150P possibly damaging Het
Zscan4-ps1 G T 7: 10,799,589 (GRCm39) F433L possibly 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
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
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
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'- TACTCACATGTGTCGCTGC -3'
(R):5'- AGTCGAGCTTCAGCATGGAC -3'

Sequencing Primer
(F):5'- ACCCAGGTGAGGTGTGCTG -3'
(R):5'- AGCTTCAGCATGGACTCGGAG -3'
Posted On 2022-03-25