Incidental Mutation 'R0055:Bcl11b'
| ID |
58981 |
| 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 |
038349-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0055 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
107876662-107969861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107932036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 179
(P179S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066060]
[ENSMUST00000109887]
[ENSMUST00000109891]
|
| AlphaFold |
Q99PV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066060
AA Change: P179S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000068258
Gene: ENSMUSG00000048251
AA Change: P179S
| 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 |
|
| Meta Mutation Damage Score |
0.0812 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
98% (59/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,547,057 (GRCm39) |
|
probably benign |
Het |
| Atp6v1h |
A |
T |
1: 5,154,677 (GRCm39) |
T2S |
probably benign |
Het |
| Cacna1a |
C |
T |
8: 85,306,687 (GRCm39) |
|
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,502,004 (GRCm39) |
|
probably null |
Het |
| Ccdc61 |
T |
C |
7: 18,626,461 (GRCm39) |
D128G |
probably damaging |
Het |
| Cd55 |
A |
G |
1: 130,387,313 (GRCm39) |
|
probably benign |
Het |
| Cdk7 |
C |
A |
13: 100,855,812 (GRCm39) |
E99* |
probably null |
Het |
| Cfap96 |
A |
T |
8: 46,421,198 (GRCm39) |
S108R |
probably damaging |
Het |
| Cox8a |
A |
T |
19: 7,194,874 (GRCm39) |
S2T |
probably damaging |
Het |
| Cracdl |
A |
C |
1: 37,663,337 (GRCm39) |
S854A |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,498,998 (GRCm39) |
I955T |
possibly damaging |
Het |
| Dop1a |
A |
C |
9: 86,394,705 (GRCm39) |
E602A |
probably benign |
Het |
| Ephx4 |
T |
C |
5: 107,560,944 (GRCm39) |
L32S |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,138,555 (GRCm39) |
D493E |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,300,610 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
A |
T |
5: 4,806,037 (GRCm39) |
M515K |
possibly damaging |
Het |
| Gli2 |
A |
G |
1: 118,818,138 (GRCm39) |
|
probably benign |
Het |
| Gm12887 |
T |
A |
4: 121,473,666 (GRCm39) |
K61N |
probably damaging |
Het |
| Grin2a |
A |
T |
16: 9,487,671 (GRCm39) |
V409D |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,900,201 (GRCm39) |
I227V |
probably benign |
Het |
| Helz2 |
T |
G |
2: 180,870,614 (GRCm39) |
D2879A |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,224,631 (GRCm39) |
N1453S |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,317,296 (GRCm39) |
S817Y |
probably damaging |
Het |
| Lin7c |
T |
A |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,152,262 (GRCm39) |
E1097G |
probably benign |
Het |
| Mcm10 |
T |
C |
2: 4,996,218 (GRCm39) |
N882D |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,373,750 (GRCm39) |
L167Q |
probably damaging |
Het |
| Morn2 |
A |
T |
17: 80,602,942 (GRCm39) |
M1L |
probably benign |
Het |
| Mybph |
G |
T |
1: 134,121,590 (GRCm39) |
V88L |
probably damaging |
Het |
| Nefm |
T |
A |
14: 68,358,648 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,362,377 (GRCm39) |
E1497G |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,615,702 (GRCm39) |
S217G |
possibly damaging |
Het |
| Or4k37 |
T |
A |
2: 111,158,870 (GRCm39) |
Y35* |
probably null |
Het |
| Or51ah3 |
A |
G |
7: 103,210,244 (GRCm39) |
K187E |
probably damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,703 (GRCm39) |
T79S |
possibly damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,285,696 (GRCm39) |
W369R |
probably damaging |
Het |
| Plcd3 |
C |
G |
11: 102,968,411 (GRCm39) |
W382S |
probably damaging |
Het |
| Plxna1 |
T |
A |
6: 89,306,721 (GRCm39) |
I1370F |
possibly damaging |
Het |
| Qng1 |
T |
C |
13: 58,531,980 (GRCm39) |
D192G |
probably damaging |
Het |
| Rarb |
G |
A |
14: 16,509,066 (GRCm38) |
R106C |
probably damaging |
Het |
| Rps6ka5 |
G |
A |
12: 100,644,839 (GRCm39) |
T37I |
probably damaging |
Het |
| Runx1 |
G |
T |
16: 92,441,029 (GRCm39) |
|
probably benign |
Het |
| Scube1 |
A |
G |
15: 83,518,937 (GRCm39) |
V301A |
probably damaging |
Het |
| Sema3a |
A |
T |
5: 13,450,004 (GRCm39) |
N27I |
possibly damaging |
Het |
| Slc15a3 |
G |
T |
19: 10,820,406 (GRCm39) |
E8* |
probably null |
Het |
| Slc22a5 |
T |
C |
11: 53,782,032 (GRCm39) |
S112G |
probably benign |
Het |
| Slc25a45 |
T |
C |
19: 5,930,495 (GRCm39) |
F3L |
probably damaging |
Het |
| Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,921,126 (GRCm39) |
|
noncoding transcript |
Het |
| Slit2 |
C |
A |
5: 48,439,068 (GRCm39) |
C1077* |
probably null |
Het |
| Spn |
A |
G |
7: 126,735,494 (GRCm39) |
F82L |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,660,655 (GRCm39) |
W54R |
probably damaging |
Het |
| Ucp1 |
G |
T |
8: 84,017,233 (GRCm39) |
E8* |
probably null |
Het |
| Unc80 |
A |
T |
1: 66,545,782 (GRCm39) |
|
probably benign |
Het |
| Vsnl1 |
A |
T |
12: 11,436,987 (GRCm39) |
|
probably null |
Het |
| Zdhhc11 |
C |
T |
13: 74,130,805 (GRCm39) |
Q295* |
probably null |
Het |
| Zfp457 |
T |
A |
13: 67,442,098 (GRCm39) |
H63L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCACTTTGAACGGCTCCAG -3'
(R):5'- AGGGCACCACTGACCAGTCTTTTC -3'
Sequencing Primer
(F):5'- CCGACACAGGTTACAGTTCAG -3'
(R):5'- ACCACTGACCAGTCTTTTCTATTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation