Incidental Mutation 'IGL02492:Bcl11b'
| ID |
295700 |
| 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 # |
IGL02492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
107876662-107969861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107881945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 718
(Y718C)
|
| 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: Y790C
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: Y790C
| 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 |
unknown
Transcript: ENSMUST00000109887
AA Change: Y596C
|
| SMART Domains |
Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251
AA Change: Y596C
| 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 damaging
Transcript: ENSMUST00000109891
AA Change: Y718C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: Y718C
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
A |
G |
9: 53,367,159 (GRCm39) |
L2482P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,102,262 (GRCm39) |
E1320G |
probably benign |
Het |
| Ccrl2 |
A |
G |
9: 110,884,871 (GRCm39) |
I209T |
probably benign |
Het |
| Cd200r2 |
A |
G |
16: 44,729,903 (GRCm39) |
K149R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,907,855 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
T |
A |
1: 10,097,377 (GRCm39) |
T291S |
probably benign |
Het |
| Csmd1 |
C |
A |
8: 16,052,597 (GRCm39) |
V2176F |
probably benign |
Het |
| Ctse |
C |
A |
1: 131,595,972 (GRCm39) |
S221R |
probably damaging |
Het |
| Cxcl3 |
A |
G |
5: 90,934,199 (GRCm39) |
|
probably null |
Het |
| Cyp51 |
C |
T |
5: 4,154,304 (GRCm39) |
V2I |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,532,844 (GRCm39) |
F285L |
probably benign |
Het |
| Dst |
T |
G |
1: 34,191,274 (GRCm39) |
|
probably benign |
Het |
| Frzb |
A |
T |
2: 80,254,935 (GRCm39) |
|
probably benign |
Het |
| Gm5070 |
A |
T |
3: 95,318,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,402,182 (GRCm38) |
|
noncoding transcript |
Het |
| Grip1 |
A |
G |
10: 119,765,945 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,086,001 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,856,439 (GRCm39) |
I675N |
probably damaging |
Het |
| Or4n4b |
T |
G |
14: 50,536,060 (GRCm39) |
K235N |
probably damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,453 (GRCm39) |
V660L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,194,069 (GRCm39) |
L484R |
possibly damaging |
Het |
| Prkg1 |
A |
T |
19: 30,701,602 (GRCm39) |
V305D |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,365,023 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
C |
T |
16: 17,457,215 (GRCm39) |
A391V |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,294,252 (GRCm39) |
L711P |
probably benign |
Het |
| Spag16 |
T |
G |
1: 69,926,688 (GRCm39) |
M261R |
probably benign |
Het |
| Steap1 |
A |
G |
5: 5,790,561 (GRCm39) |
V129A |
possibly damaging |
Het |
| Tbcd |
A |
T |
11: 121,387,960 (GRCm39) |
I364L |
probably benign |
Het |
| Trmt13 |
C |
T |
3: 116,376,192 (GRCm39) |
D400N |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,625,001 (GRCm39) |
S2753P |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,346,511 (GRCm39) |
S2917R |
probably damaging |
Het |
| Zfp983 |
G |
A |
17: 21,876,528 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation