Incidental Mutation 'R8914:Bcl11b'
| ID |
678842 |
| 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 |
068766-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
107876662-107969861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107883163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 384
(R384L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066060]
[ENSMUST00000109887]
[ENSMUST00000109891]
|
| AlphaFold |
Q99PV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066060
AA Change: R384L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: R384L
| 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 |
possibly damaging
Transcript: ENSMUST00000109887
AA Change: R190L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251
AA Change: R190L
| 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: R312L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: R312L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5330417H12Rik |
C |
T |
7: 107,223,922 (GRCm39) |
E51K |
unknown |
Het |
| Akr1c20 |
T |
C |
13: 4,561,215 (GRCm39) |
D146G |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,000,843 (GRCm39) |
C205* |
probably null |
Het |
| Ap3s2 |
A |
G |
7: 79,564,911 (GRCm39) |
I86T |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp9a |
C |
T |
2: 168,479,420 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
T |
G |
17: 28,105,887 (GRCm39) |
D804E |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,208 (GRCm39) |
D1657E |
probably damaging |
Het |
| Cabyr |
C |
A |
18: 12,884,077 (GRCm39) |
T188N |
probably damaging |
Het |
| Capn5 |
C |
A |
7: 97,784,997 (GRCm39) |
W159L |
probably damaging |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,503,087 (GRCm39) |
Y206N |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,854,080 (GRCm39) |
S514T |
unknown |
Het |
| Cdk14 |
G |
T |
5: 5,086,515 (GRCm39) |
H286Q |
possibly damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,345,112 (GRCm39) |
H141Q |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,390,665 (GRCm39) |
S109P |
possibly damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,916,192 (GRCm39) |
R126* |
probably null |
Het |
| Dpys |
C |
A |
15: 39,720,619 (GRCm39) |
R47L |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,152,090 (GRCm39) |
V361A |
probably benign |
Het |
| Epha7 |
T |
G |
4: 28,963,892 (GRCm39) |
D962E |
probably damaging |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Fyb2 |
T |
C |
4: 104,857,700 (GRCm39) |
S626P |
probably benign |
Het |
| Gtpbp1 |
T |
A |
15: 79,600,393 (GRCm39) |
V442D |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,422,188 (GRCm39) |
I973F |
probably damaging |
Het |
| Igkv1-99 |
A |
C |
6: 68,519,340 (GRCm39) |
K99T |
|
Het |
| Igkv6-14 |
C |
T |
6: 70,412,180 (GRCm39) |
V35I |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Klk1b9 |
C |
T |
7: 43,628,925 (GRCm39) |
T143I |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Mettl15 |
A |
C |
2: 108,967,625 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,299,595 (GRCm39) |
V1813A |
|
Het |
| Mrps30 |
A |
G |
13: 118,523,755 (GRCm39) |
Y6H |
possibly damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,329,710 (GRCm39) |
I176K |
probably benign |
Het |
| Nckap5l |
C |
T |
15: 99,323,761 (GRCm39) |
G914D |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,363,089 (GRCm39) |
E930* |
probably null |
Het |
| Nuggc |
G |
A |
14: 65,879,354 (GRCm39) |
V705I |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,718 (GRCm39) |
K376M |
probably damaging |
Het |
| Or10a3n |
T |
C |
7: 108,492,736 (GRCm39) |
R298G |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,004 (GRCm39) |
L166F |
probably damaging |
Het |
| Or51l14 |
T |
A |
7: 103,101,090 (GRCm39) |
L182Q |
probably damaging |
Het |
| Or5g27 |
A |
G |
2: 85,410,056 (GRCm39) |
T158A |
possibly damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,759 (GRCm39) |
V143A |
probably benign |
Het |
| Or6c200-ps1 |
C |
A |
10: 128,871,372 (GRCm39) |
M2I |
probably benign |
Het |
| Pi15 |
A |
G |
1: 17,691,962 (GRCm39) |
Y217C |
probably damaging |
Het |
| Pou5f1 |
T |
C |
17: 35,821,371 (GRCm39) |
S328P |
probably benign |
Het |
| Pparg |
T |
A |
6: 115,440,133 (GRCm39) |
S236T |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,854 (GRCm39) |
T72A |
probably benign |
Het |
| Ptprb |
C |
A |
10: 116,158,567 (GRCm39) |
S546* |
probably null |
Het |
| Ranbp9 |
A |
G |
13: 43,578,560 (GRCm39) |
I171T |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,326,587 (GRCm39) |
L160* |
probably null |
Het |
| Rfxap |
T |
C |
3: 54,715,042 (GRCm39) |
T19A |
probably benign |
Het |
| Sctr |
T |
A |
1: 119,959,386 (GRCm39) |
F95I |
probably benign |
Het |
| Sf3b3 |
T |
A |
8: 111,540,439 (GRCm39) |
Q994L |
probably benign |
Het |
| Slfn9 |
A |
T |
11: 82,872,132 (GRCm39) |
I868N |
probably damaging |
Het |
| Top3a |
A |
T |
11: 60,631,405 (GRCm39) |
C986S |
probably damaging |
Het |
| Trak1 |
T |
A |
9: 121,272,847 (GRCm39) |
L245Q |
unknown |
Het |
| Trim27 |
A |
G |
13: 21,364,993 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ubxn2a |
T |
C |
12: 4,930,754 (GRCm39) |
D202G |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,607,122 (GRCm39) |
K36R |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,293,604 (GRCm39) |
T252A |
|
Het |
| Vmn1r73 |
C |
A |
7: 11,490,328 (GRCm39) |
H49N |
probably damaging |
Het |
| Vmn2r117 |
C |
T |
17: 23,679,143 (GRCm39) |
V694I |
probably benign |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,983 (GRCm39) |
F853L |
probably benign |
Het |
| Vmn2r55 |
A |
T |
7: 12,405,024 (GRCm39) |
H126Q |
probably benign |
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 |
|
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 |
|
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'- TGCTCTGGAACTTGAAGGTC -3'
(R):5'- TTTCAACCTGCTGCGCATG -3'
Sequencing Primer
(F):5'- TTGAAGGTCTTGCCGCAGAAC -3'
(R):5'- GTACGCCACCGCTCTTCAG -3'
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| Posted On |
2021-08-02 |
Incidental Mutation