Incidental Mutation 'R6380:Bcl11b'
ID 515282
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 044529-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6380 (G1)
Quality Score 141.008
Status Validated
Chromosome 12
Chromosomal Location 107876662-107969861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107969360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 15 (R15G)
Ref Sequence ENSEMBL: ENSMUSP00000105517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066060] [ENSMUST00000109887] [ENSMUST00000109891]
AlphaFold Q99PV8
Predicted Effect probably benign
Transcript: ENSMUST00000066060
AA Change: R15G

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: R15G

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
AA Change: R15G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251
AA Change: R15G

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: R15G

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: R15G

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
Meta Mutation Damage Score 0.0895 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.5%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik G A 6: 91,900,118 (GRCm39) G424D probably damaging Het
Aco1 T C 4: 40,185,028 (GRCm39) V566A probably benign Het
Adat1 G T 8: 112,704,704 (GRCm39) T414K probably benign Het
Alox12e A G 11: 70,211,927 (GRCm39) V194A probably benign Het
Anpep A G 7: 79,491,644 (GRCm39) V119A probably benign Het
Atat1 C A 17: 36,219,849 (GRCm39) probably null Het
Atp10a G A 7: 58,469,432 (GRCm39) W1094* probably null Het
Bltp1 A G 3: 37,087,456 (GRCm39) D4019G probably benign Het
Btnl1 A G 17: 34,598,468 (GRCm39) E28G probably benign Het
Ccnd1 A G 7: 144,493,306 (GRCm39) V42A probably benign Het
Cdyl2 T A 8: 117,309,923 (GRCm39) K344N probably damaging Het
Cep68 A G 11: 20,180,498 (GRCm39) M711T probably benign Het
Cyp2j7 A G 4: 96,118,211 (GRCm39) probably null Het
Cyp3a25 A T 5: 145,935,357 (GRCm39) D86E probably damaging Het
Dclk1 G T 3: 55,154,615 (GRCm39) R15L probably damaging Het
Dpy19l1 T A 9: 24,393,341 (GRCm39) K143* probably null Het
Duox2 A G 2: 122,111,483 (GRCm39) V1405A probably benign Het
Filip1 T C 9: 79,726,906 (GRCm39) E571G probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Jph1 T C 1: 17,162,071 (GRCm39) N197S probably damaging Het
Kcnt2 T C 1: 140,437,322 (GRCm39) L535S probably damaging Het
Lepr C A 4: 101,622,151 (GRCm39) S361* probably null Het
Lfng T A 5: 140,600,151 (GRCm39) probably null Het
Lpcat2 G A 8: 93,613,209 (GRCm39) A250T probably benign Het
Mab21l4 G A 1: 93,088,613 (GRCm39) probably null Het
Map3k4 A T 17: 12,490,954 (GRCm39) M159K possibly damaging Het
Notch3 A T 17: 32,363,533 (GRCm39) C1177S probably damaging Het
Olfml2b C T 1: 170,496,800 (GRCm39) P477L probably benign Het
Or51a5 A T 7: 102,771,136 (GRCm39) F281Y probably benign Het
Or5k16 T A 16: 58,736,627 (GRCm39) I126L probably damaging Het
Or6c33 A T 10: 129,853,782 (GRCm39) H184L probably benign Het
Pald1 G T 10: 61,186,714 (GRCm39) F146L possibly damaging Het
Pcdhga1 A G 18: 37,796,022 (GRCm39) D342G probably damaging Het
Plcb2 T C 2: 118,545,949 (GRCm39) S579G probably damaging Het
Prdm16 A T 4: 154,425,824 (GRCm39) S654T probably benign Het
Rab3gap2 C A 1: 184,968,181 (GRCm39) L178I probably damaging Het
Rbfox1 C T 16: 7,042,214 (GRCm39) Q23* probably null Het
Slc14a2 T G 18: 78,190,190 (GRCm39) T920P probably benign Het
Slc17a6 G A 7: 51,317,211 (GRCm39) V411M probably benign Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Syce1 A T 7: 140,358,978 (GRCm39) H178Q probably damaging Het
Syne2 T A 12: 76,151,754 (GRCm39) F1872I probably damaging Het
Tor1aip1 T C 1: 155,894,234 (GRCm39) E274G possibly damaging Het
Trpm1 A T 7: 63,918,045 (GRCm39) T462S probably benign Het
Ugt3a1 C T 15: 9,306,541 (GRCm39) A230V probably benign Het
Vmn1r178 A G 7: 23,592,984 (GRCm39) T11A possibly damaging Het
Vmn2r69 A T 7: 85,061,067 (GRCm39) N172K probably benign Het
Whrn G T 4: 63,336,829 (GRCm39) P136T possibly damaging Het
Zfhx4 A G 3: 5,478,170 (GRCm39) N3570S probably damaging Het
Zfp689 A G 7: 127,043,968 (GRCm39) S221P 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
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
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'- TTCGGAATCCTAGCAGCGG -3'
(R):5'- GAGCAAGCCATCTTCCTGG -3'

Sequencing Primer
(F):5'- ACACACGCCGCTTGGAG -3'
(R):5'- ACAGCCCAGAAGAAAGAGC -3'
Posted On 2018-05-04