Incidental Mutation 'R7074:Bcl11b'
ID |
549116 |
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 |
045242-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7074 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
107876662-107969861 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107955766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 128
(S128P)
|
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: S128P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000068258 Gene: ENSMUSG00000048251 AA Change: S128P
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 |
possibly damaging
Transcript: ENSMUST00000109891
AA Change: S128P
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105517 Gene: ENSMUSG00000048251 AA Change: S128P
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 |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,340,433 (GRCm39) |
I53L |
probably benign |
Het |
Acss2 |
T |
C |
2: 155,363,961 (GRCm39) |
L80P |
possibly damaging |
Het |
Adam3 |
A |
T |
8: 25,184,363 (GRCm39) |
F546I |
probably benign |
Het |
Adtrp |
A |
T |
13: 41,981,617 (GRCm39) |
|
probably null |
Het |
Anapc1 |
G |
T |
2: 128,520,194 (GRCm39) |
P208T |
probably damaging |
Het |
Ankrd33 |
A |
G |
15: 101,017,430 (GRCm39) |
K281R |
probably benign |
Het |
Ccdc57 |
T |
C |
11: 120,794,200 (GRCm39) |
K265E |
possibly damaging |
Het |
Cep72 |
A |
G |
13: 74,199,699 (GRCm39) |
C244R |
probably benign |
Het |
Cope |
A |
G |
8: 70,765,537 (GRCm39) |
Q303R |
probably benign |
Het |
Cpd |
T |
A |
11: 76,704,420 (GRCm39) |
N398I |
probably damaging |
Het |
Cplx1 |
C |
T |
5: 108,696,393 (GRCm39) |
|
probably null |
Het |
Dixdc1 |
T |
A |
9: 50,601,214 (GRCm39) |
E344D |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,833,445 (GRCm39) |
F1951I |
unknown |
Het |
Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
Faap24 |
A |
T |
7: 35,094,527 (GRCm39) |
I91K |
possibly damaging |
Het |
Fubp3 |
T |
C |
2: 31,485,306 (GRCm39) |
S107P |
probably damaging |
Het |
Gas2l2 |
T |
A |
11: 83,313,893 (GRCm39) |
Q473L |
probably benign |
Het |
Ghr |
A |
T |
15: 3,362,873 (GRCm39) |
Y200N |
probably damaging |
Het |
Gm4950 |
G |
A |
18: 51,998,521 (GRCm39) |
Q145* |
probably null |
Het |
Gm826 |
C |
T |
2: 160,153,810 (GRCm39) |
V78I |
unknown |
Het |
Gnas |
G |
A |
2: 174,126,842 (GRCm39) |
E126K |
probably damaging |
Het |
Grip2 |
A |
T |
6: 91,761,689 (GRCm39) |
V235E |
probably benign |
Het |
Hmgcl |
A |
G |
4: 135,681,178 (GRCm39) |
H88R |
probably benign |
Het |
Htr7 |
A |
G |
19: 36,034,283 (GRCm39) |
V124A |
probably damaging |
Het |
Igf2r |
T |
A |
17: 12,933,003 (GRCm39) |
I840F |
possibly damaging |
Het |
Ints8 |
T |
C |
4: 11,204,574 (GRCm39) |
I961V |
possibly damaging |
Het |
Jmy |
A |
T |
13: 93,590,439 (GRCm39) |
S555T |
probably benign |
Het |
Klk1b27 |
G |
A |
7: 43,705,977 (GRCm39) |
G227S |
probably damaging |
Het |
Lao1 |
A |
C |
4: 118,825,382 (GRCm39) |
T401P |
probably damaging |
Het |
Lrwd1 |
C |
T |
5: 136,152,511 (GRCm39) |
V547I |
probably benign |
Het |
Mttp |
C |
A |
3: 137,813,034 (GRCm39) |
R532L |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,566,946 (GRCm39) |
T1858A |
unknown |
Het |
Myo18a |
T |
A |
11: 77,733,387 (GRCm39) |
D1409E |
probably benign |
Het |
Ncor2 |
T |
A |
5: 125,126,430 (GRCm39) |
R554* |
probably null |
Het |
Or14j6 |
T |
A |
17: 38,214,718 (GRCm39) |
Y94N |
possibly damaging |
Het |
Or1e1b-ps1 |
A |
T |
11: 73,845,975 (GRCm39) |
H153L |
probably benign |
Het |
Or2b11 |
T |
C |
11: 59,461,835 (GRCm39) |
T244A |
probably damaging |
Het |
Or2l13b |
T |
A |
16: 19,348,855 (GRCm39) |
I272F |
possibly damaging |
Het |
Or52b1 |
A |
G |
7: 104,978,475 (GRCm39) |
M308T |
probably benign |
Het |
Prkar2b |
A |
G |
12: 32,022,147 (GRCm39) |
Y213H |
probably damaging |
Het |
Prkd3 |
T |
A |
17: 79,282,236 (GRCm39) |
K306* |
probably null |
Het |
Psd2 |
A |
G |
18: 36,143,737 (GRCm39) |
E681G |
probably benign |
Het |
Sel1l2 |
T |
A |
2: 140,105,362 (GRCm39) |
N276I |
probably damaging |
Het |
Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
Smyd1 |
A |
G |
6: 71,214,359 (GRCm39) |
V214A |
probably damaging |
Het |
Spag5 |
T |
C |
11: 78,195,868 (GRCm39) |
|
probably null |
Het |
Trem3 |
C |
T |
17: 48,556,909 (GRCm39) |
R127W |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,748,425 (GRCm39) |
T4208I |
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 89,004,839 (GRCm39) |
F260S |
probably damaging |
Het |
Vmn1r51 |
A |
T |
6: 90,106,654 (GRCm39) |
D190V |
probably benign |
Het |
Zc3h14 |
A |
G |
12: 98,724,859 (GRCm39) |
I174V |
possibly damaging |
Het |
Zfp423 |
G |
A |
8: 88,509,060 (GRCm39) |
T428I |
probably benign |
Het |
Zfp608 |
T |
A |
18: 55,030,454 (GRCm39) |
N1162I |
possibly damaging |
Het |
Zmym5 |
T |
C |
14: 57,042,255 (GRCm39) |
M8V |
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 |
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'- CAACAGTCAGGTCTTCTTCACC -3'
(R):5'- GTCAGATGAACTTCCCGCTG -3'
Sequencing Primer
(F):5'- TGTCTTCCCCGGAGAGTCAC -3'
(R):5'- GGGGGACATCCTGGTTTTTATAGAG -3'
|
Posted On |
2019-05-15 |