Incidental Mutation 'IGL00468:Bcl11b'
| ID |
4362 |
| 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 # |
IGL00468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
107876662-107969861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107932074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 166
(V166A)
|
| 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: V166A
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: V166A
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,630,453 (GRCm39) |
E123G |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
| Armc9 |
T |
C |
1: 86,126,061 (GRCm39) |
Y51H |
probably damaging |
Het |
| Cfap70 |
T |
A |
14: 20,462,530 (GRCm39) |
D565V |
possibly damaging |
Het |
| Cops5 |
C |
A |
1: 10,104,295 (GRCm39) |
G132W |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,972,135 (GRCm39) |
V468M |
probably damaging |
Het |
| Fasn |
A |
C |
11: 120,711,365 (GRCm39) |
D216E |
probably damaging |
Het |
| Fktn |
T |
A |
4: 53,734,866 (GRCm39) |
I168K |
probably benign |
Het |
| Gal3st2c |
A |
G |
1: 93,936,771 (GRCm39) |
R239G |
probably benign |
Het |
| Glt6d1 |
A |
C |
2: 25,701,041 (GRCm39) |
L36R |
probably damaging |
Het |
| Herc3 |
A |
G |
6: 58,895,751 (GRCm39) |
I1000V |
probably benign |
Het |
| Hycc2 |
T |
G |
1: 58,569,391 (GRCm39) |
E396A |
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lhcgr |
C |
T |
17: 89,049,874 (GRCm39) |
V551I |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,391,991 (GRCm39) |
S437R |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,595,151 (GRCm39) |
|
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,806,816 (GRCm39) |
D155G |
probably damaging |
Het |
| Mcf2 |
G |
A |
X: 59,179,095 (GRCm39) |
T104I |
probably damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
A |
G |
14: 61,112,709 (GRCm39) |
E664G |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,385,124 (GRCm39) |
V519D |
probably damaging |
Het |
| Nfil3 |
C |
A |
13: 53,121,610 (GRCm39) |
L431F |
probably damaging |
Het |
| Sctr |
T |
A |
1: 119,972,450 (GRCm39) |
V197E |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,227,124 (GRCm39) |
T103A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,117,390 (GRCm39) |
V453D |
probably damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,807 (GRCm39) |
H1023Q |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,947,640 (GRCm39) |
|
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,216,982 (GRCm39) |
E262D |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,523,679 (GRCm39) |
H1732Q |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,251,469 (GRCm39) |
D840G |
possibly damaging |
Het |
| Tox4 |
A |
G |
14: 52,523,202 (GRCm39) |
D54G |
probably damaging |
Het |
|
| Other mutations in Bcl11b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation