Incidental Mutation 'IGL02559:Bcl11b'
| ID |
298643 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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)
|
| Stock # |
IGL02559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
107876662-107969861 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to T
at 107881653 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,507,433 (GRCm39) |
Q1004* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,175,998 (GRCm39) |
D1914G |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,019,934 (GRCm39) |
I102F |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,802,284 (GRCm39) |
R2063C |
unknown |
Het |
| Ddo |
T |
A |
10: 40,523,517 (GRCm39) |
L169Q |
probably damaging |
Het |
| Defb4 |
G |
T |
8: 19,251,313 (GRCm39) |
C60F |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,862,559 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
T |
6: 84,044,428 (GRCm39) |
|
probably benign |
Het |
| Fasn |
G |
A |
11: 120,699,892 (GRCm39) |
A2253V |
possibly damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,551,232 (GRCm39) |
D355G |
probably benign |
Het |
| Gak |
C |
T |
5: 108,732,098 (GRCm39) |
E797K |
probably null |
Het |
| Gm10654 |
T |
C |
8: 71,384,774 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,183,729 (GRCm39) |
|
probably benign |
Het |
| H2bc11 |
T |
A |
13: 22,227,533 (GRCm39) |
V45E |
possibly damaging |
Het |
| Hdac3 |
A |
G |
18: 38,087,944 (GRCm39) |
F8S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,140,301 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
A |
G |
14: 96,389,396 (GRCm39) |
V586A |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
| Mmp28 |
G |
T |
11: 83,338,566 (GRCm39) |
N128K |
probably benign |
Het |
| Mndal |
T |
C |
1: 173,700,486 (GRCm39) |
T162A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,991,921 (GRCm39) |
E1822G |
possibly damaging |
Het |
| Mylpf |
A |
G |
7: 126,813,315 (GRCm39) |
Y133C |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,067,260 (GRCm39) |
A767T |
probably benign |
Het |
| Or10j3b |
T |
C |
1: 173,044,088 (GRCm39) |
V290A |
probably damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,161 (GRCm39) |
R225W |
probably benign |
Het |
| Or5au1 |
A |
G |
14: 52,273,464 (GRCm39) |
Y35H |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,112,451 (GRCm39) |
I312V |
possibly damaging |
Het |
| Pkdrej |
G |
T |
15: 85,702,049 (GRCm39) |
Q1296K |
probably benign |
Het |
| Rufy1 |
A |
G |
11: 50,311,310 (GRCm39) |
F170L |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,799,305 (GRCm39) |
E93V |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,594,826 (GRCm39) |
I11K |
possibly damaging |
Het |
| Slc5a5 |
C |
T |
8: 71,342,915 (GRCm39) |
G215D |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,867,514 (GRCm39) |
V473D |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,709,524 (GRCm39) |
V123A |
probably benign |
Het |
| Srgap2 |
A |
C |
1: 131,452,674 (GRCm39) |
|
probably null |
Het |
| Stk32c |
T |
C |
7: 138,700,606 (GRCm39) |
M208V |
probably benign |
Het |
| Syt15 |
T |
C |
14: 33,943,760 (GRCm39) |
V103A |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,360,997 (GRCm39) |
L456Q |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,554,998 (GRCm39) |
|
probably benign |
Het |
| Tepsin |
G |
T |
11: 119,987,731 (GRCm39) |
D62E |
probably benign |
Het |
| Thap3 |
T |
C |
4: 152,068,144 (GRCm39) |
D106G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,561 (GRCm39) |
D14818G |
probably damaging |
Het |
| Txndc2 |
T |
C |
17: 65,946,585 (GRCm39) |
N39S |
possibly damaging |
Het |
| Ubxn11 |
A |
G |
4: 133,852,254 (GRCm39) |
E200G |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,200,046 (GRCm39) |
Q469P |
probably damaging |
Het |
| Yipf2 |
T |
C |
9: 21,503,482 (GRCm39) |
T22A |
probably damaging |
Het |
| Ypel1 |
T |
C |
16: 16,927,515 (GRCm39) |
K26E |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation