Incidental Mutation 'R3053:Bcl11b'
| ID |
265044 |
| 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 |
040562-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3053 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
107876662-107969861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107882260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 613
(E613G)
|
| 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: E685G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: E685G
| 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: E491G
|
| SMART Domains |
Protein: ENSMUSP00000105513
Gene: ENSMUSG00000048251
AA Change: E491G
| 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
AA Change: E613G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000105517
Gene: ENSMUSG00000048251
AA Change: E613G
| 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 |
0.0699 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| Cibar1 |
G |
C |
4: 12,157,767 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,400 (GRCm39) |
Y261C |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
| Ppm1b |
G |
A |
17: 85,321,274 (GRCm39) |
R472K |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
| Psg18 |
C |
T |
7: 18,083,118 (GRCm39) |
G225R |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rapgef1 |
T |
C |
2: 29,614,868 (GRCm39) |
I817T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
| Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,087 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACTCACATGTGTCGCTGC -3'
(R):5'- TCGAGCTTCAGCATGGACTC -3'
Sequencing Primer
(F):5'- ACCCAGGTGAGGTGTGCTG -3'
(R):5'- TTCAGCATGGACTCGGAGCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation