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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |