Incidental Mutation 'R4094:Bcl11b'
ID 317819
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 041628-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4094 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 107876662-107969861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 107883094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 335 (P335Q)
Ref Sequence ENSEMBL: ENSMUSP00000105517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066060] [ENSMUST00000109887] [ENSMUST00000109891]
AlphaFold Q99PV8
Predicted Effect probably damaging
Transcript: ENSMUST00000066060
AA Change: P407Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: P407Q

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 damaging
Transcript: ENSMUST00000109887
AA Change: P213Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251
AA Change: P213Q

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: P335Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: P335Q

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 0.1312 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,071,192 (GRCm39) C1500R probably damaging Het
Amz1 A T 5: 140,737,921 (GRCm39) M93L probably damaging Het
Asb18 A T 1: 89,942,147 (GRCm39) N51K probably damaging Het
Bsn A C 9: 107,991,069 (GRCm39) V1561G probably damaging Het
Cadm2 A T 16: 66,679,685 (GRCm39) N49K probably damaging Het
Cct8 T G 16: 87,284,516 (GRCm39) I283L possibly damaging Het
Cdc25b A G 2: 131,031,037 (GRCm39) M121V probably benign Het
Cpne4 A G 9: 104,563,734 (GRCm39) D37G probably damaging Het
Cym A G 3: 107,121,582 (GRCm39) S237P probably benign Het
Dhx35 T A 2: 158,684,276 (GRCm39) I517N probably damaging Het
Ehf T C 2: 103,121,095 (GRCm39) probably benign Het
Erp29 A G 5: 121,590,345 (GRCm39) probably benign Het
Fgd6 C A 10: 93,879,296 (GRCm39) P50Q probably damaging Het
Fhip1b T C 7: 105,037,425 (GRCm39) D386G probably damaging Het
Foxn3 G T 12: 99,162,700 (GRCm39) D400E probably damaging Het
Frmd4a A G 2: 4,615,843 (GRCm39) Y1031C probably damaging Het
Gna13 T A 11: 109,287,242 (GRCm39) I355N probably damaging Het
Hgs T A 11: 120,359,859 (GRCm39) L21* probably null Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Itga2 T C 13: 115,007,161 (GRCm39) D389G probably benign Het
Kdm1b T C 13: 47,216,496 (GRCm39) C289R probably damaging Het
Kdm4c T A 4: 74,229,915 (GRCm39) D237E probably benign Het
Lilrb4b A T 10: 51,357,506 (GRCm39) E114V probably damaging Het
Loxl1 G A 9: 58,219,739 (GRCm39) T144I probably damaging Het
Macf1 C T 4: 123,353,062 (GRCm39) R1784Q probably benign Het
Maml2 G A 9: 13,531,449 (GRCm39) S221N probably benign Het
Map3k1 A G 13: 111,892,696 (GRCm39) M853T possibly damaging Het
Micu3 T G 8: 40,788,929 (GRCm39) S147A probably null Het
Nccrp1 T C 7: 28,243,651 (GRCm39) Y261C possibly damaging Het
Or51aa5 T A 7: 103,167,244 (GRCm39) I116F possibly damaging Het
Or5m5 A G 2: 85,814,562 (GRCm39) Y126C probably damaging Het
Or8k18 T C 2: 86,085,674 (GRCm39) D121G probably damaging Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Pclo C A 5: 14,905,659 (GRCm39) T4963N unknown Het
Pdxk T C 10: 78,300,644 (GRCm39) H13R probably damaging Het
Plcg1 A G 2: 160,589,761 (GRCm39) E95G probably damaging Het
Ppargc1a T C 5: 51,647,406 (GRCm39) N276S possibly damaging Het
Prr12 A G 7: 44,697,371 (GRCm39) L848P unknown Het
Ptcd2 A G 13: 99,468,957 (GRCm39) I202T probably damaging Het
Rab27a A C 9: 72,982,826 (GRCm39) I44L probably damaging Het
Rbfox2 A T 15: 77,016,925 (GRCm39) S82T probably damaging Het
Rsbn1 T A 3: 103,835,974 (GRCm39) F337L probably damaging Het
Samd8 T C 14: 21,843,113 (GRCm39) I414T probably damaging Het
Sema3e A G 5: 14,283,704 (GRCm39) I478V probably benign Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc2a3 A T 6: 122,712,527 (GRCm39) I239N probably benign Het
Spc25 G A 2: 69,032,975 (GRCm39) S50L probably damaging Het
St8sia4 A T 1: 95,555,411 (GRCm39) S206R possibly damaging Het
Syngr3 G A 17: 24,908,817 (GRCm39) probably benign Het
Tigd4 A G 3: 84,501,947 (GRCm39) D288G probably damaging Het
Trim34b A G 7: 103,983,795 (GRCm39) M251V probably benign Het
Ttll5 A T 12: 86,003,376 (GRCm39) R214* probably null Het
Ttn T C 2: 76,730,860 (GRCm39) probably benign Het
Vmp1 A G 11: 86,534,406 (GRCm39) I167T probably benign Het
Zfp64 T C 2: 168,767,855 (GRCm39) T586A probably benign Het
Zfp943 T A 17: 22,211,963 (GRCm39) C350S probably damaging Het
Zscan4f A T 7: 11,135,185 (GRCm39) N197I 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
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'- TCTTCATGTGGCGCTTGAGC -3'
(R):5'- CTTTCAACCTGCTGCGCATG -3'

Sequencing Primer
(F):5'- GCTTGAGCTTGCTCGCCTG -3'
(R):5'- AGTGCCTTCGACCGAGTCATG -3'
Posted On 2015-05-15