Incidental Mutation 'R4155:Bcl11b'
ID |
315106 |
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 |
040999-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4155 (G1)
|
Quality Score |
144 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
107876662-107969861 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 107883684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066060]
[ENSMUST00000066060]
[ENSMUST00000109887]
[ENSMUST00000109887]
[ENSMUST00000109891]
[ENSMUST00000109891]
|
AlphaFold |
Q99PV8 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 |
|
Predicted Effect |
probably null
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 |
|
Meta Mutation Damage Score |
0.9755 |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
Akt3 |
A |
G |
1: 176,924,543 (GRCm39) |
I184T |
possibly damaging |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Armc2 |
A |
G |
10: 41,887,863 (GRCm39) |
V40A |
probably damaging |
Het |
Ash2l |
A |
G |
8: 26,307,482 (GRCm39) |
Y485H |
probably damaging |
Het |
Atr |
T |
A |
9: 95,770,177 (GRCm39) |
C1202* |
probably null |
Het |
Birc6 |
C |
A |
17: 74,903,934 (GRCm39) |
S1242R |
probably benign |
Het |
Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
Bsx |
A |
G |
9: 40,787,632 (GRCm39) |
E102G |
probably benign |
Het |
Casq2 |
A |
T |
3: 102,040,418 (GRCm39) |
|
probably null |
Het |
Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
Copa |
T |
G |
1: 171,928,992 (GRCm39) |
N251K |
probably damaging |
Het |
Cst8 |
C |
A |
2: 148,641,996 (GRCm39) |
A31E |
possibly damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
Fbn2 |
C |
A |
18: 58,156,359 (GRCm39) |
E2487* |
probably null |
Het |
Hoxd9 |
A |
G |
2: 74,529,667 (GRCm39) |
I308V |
probably benign |
Het |
Ica1l |
G |
A |
1: 60,053,052 (GRCm39) |
A162V |
possibly damaging |
Het |
Kcnj15 |
A |
T |
16: 95,097,166 (GRCm39) |
K263* |
probably null |
Het |
Mettl4 |
T |
C |
17: 95,048,003 (GRCm39) |
M213V |
probably benign |
Het |
Nalf1 |
T |
A |
8: 9,283,023 (GRCm39) |
Y342F |
possibly damaging |
Het |
Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
Or14a259 |
T |
A |
7: 86,013,270 (GRCm39) |
I92L |
probably benign |
Het |
Or4c127 |
A |
G |
2: 89,833,004 (GRCm39) |
S85G |
probably benign |
Het |
Or52s19 |
T |
C |
7: 103,008,363 (GRCm39) |
T13A |
probably benign |
Het |
Or8d1b |
A |
T |
9: 38,887,451 (GRCm39) |
T160S |
probably damaging |
Het |
P2rx5 |
A |
G |
11: 73,062,655 (GRCm39) |
T455A |
probably damaging |
Het |
Pcdh1 |
T |
A |
18: 38,336,159 (GRCm39) |
T159S |
probably damaging |
Het |
Poln |
A |
G |
5: 34,166,993 (GRCm39) |
V755A |
possibly damaging |
Het |
Pou4f1 |
C |
T |
14: 104,705,153 (GRCm39) |
S6N |
possibly damaging |
Het |
Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
Samd4 |
T |
A |
14: 47,290,403 (GRCm39) |
M170K |
possibly damaging |
Het |
Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
Tmcc1 |
C |
T |
6: 116,110,765 (GRCm39) |
G176D |
probably benign |
Het |
Tmem232 |
A |
T |
17: 65,743,328 (GRCm39) |
M321K |
probably damaging |
Het |
Tnfsf11 |
A |
G |
14: 78,537,309 (GRCm39) |
M118T |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
Ttc27 |
T |
G |
17: 75,147,455 (GRCm39) |
I669S |
probably benign |
Het |
Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
Wdr64 |
T |
A |
1: 175,597,172 (GRCm39) |
L73H |
probably benign |
Het |
Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
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 |
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 |
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'- AATTCATGAGTGGGGACTGCG -3'
(R):5'- TGCTCATAGATCCCGTGTTC -3'
Sequencing Primer
(F):5'- ACTGCGCCACGGTCTCC -3'
(R):5'- ATAGATCCCGTGTTCCCTTGC -3'
|
Posted On |
2015-05-14 |