Incidental Mutation 'R8211:Bcl11a'
| ID |
656338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl11a
|
| Ensembl Gene |
ENSMUSG00000000861 |
| Gene Name |
BCL11 transcription factor A |
| Synonyms |
mouse myeloid leukemia gene, CTIP1, Evi9a, Evi9b, Evi9c, D930021L15Rik, COUP-TF interacting protein 1, 2810047E18Rik, Evi9 |
| MMRRC Submission |
067634-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8211 (G1)
|
| Quality Score |
53.0072 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
24028056-24124123 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24028394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 2
(S2T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000881]
[ENSMUST00000068360]
[ENSMUST00000109514]
[ENSMUST00000109516]
[ENSMUST00000118955]
|
| AlphaFold |
Q9QYE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000881
AA Change: S2T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: S2T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2H2_6
|
45 |
73 |
5.9e-9 |
PFAM |
|
ZnF_C2H2
|
170 |
193 |
7.15e-2 |
SMART |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
373 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
377 |
399 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
405 |
427 |
1.69e-3 |
SMART |
|
low complexity region
|
456 |
472 |
N/A |
INTRINSIC |
|
coiled coil region
|
481 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
696 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068360
|
| SMART Domains |
Protein: ENSMUSP00000063283
Gene: ENSMUSG00000055010
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109514
AA Change: S2T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: S2T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C2H2
|
46 |
72 |
8e-10 |
BLAST |
|
ZnF_C2H2
|
170 |
193 |
7.15e-2 |
SMART |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
373 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
377 |
399 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
405 |
427 |
1.69e-3 |
SMART |
|
low complexity region
|
456 |
472 |
N/A |
INTRINSIC |
|
coiled coil region
|
481 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
696 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
742 |
764 |
1.41e0 |
SMART |
|
ZnF_C2H2
|
770 |
792 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
800 |
823 |
3.07e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109516
AA Change: S2T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105142
Gene: ENSMUSG00000000861
AA Change: S2T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2H2_6
|
45 |
73 |
3.2e-8 |
PFAM |
|
ZnF_C2H2
|
170 |
193 |
7.15e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118955
|
| SMART Domains |
Protein: ENSMUSP00000112948
Gene: ENSMUSG00000000861
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
118 |
141 |
7.15e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.1618 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| 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 by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in B cell deficiency, alteration of T cell types, and neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330017A19Rik |
A |
G |
17: 47,201,309 (GRCm39) |
|
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,172,371 (GRCm39) |
S445P |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,649,345 (GRCm39) |
I304T |
possibly damaging |
Het |
| Alk |
G |
A |
17: 72,176,702 (GRCm39) |
A1534V |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,703,228 (GRCm39) |
P287L |
unknown |
Het |
| Appl1 |
T |
C |
14: 26,667,555 (GRCm39) |
I367V |
probably benign |
Het |
| Arpin |
T |
A |
7: 79,584,992 (GRCm39) |
M1L |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| B430203G13Rik |
A |
T |
12: 17,974,540 (GRCm39) |
H82L |
noncoding transcript |
Het |
| Cfap299 |
A |
G |
5: 98,477,294 (GRCm39) |
I28V |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,213,220 (GRCm39) |
M1605L |
unknown |
Het |
| Chga |
C |
A |
12: 102,527,678 (GRCm39) |
Q111K |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,782,707 (GRCm39) |
E24G |
unknown |
Het |
| Dst |
T |
C |
1: 34,251,532 (GRCm39) |
L2195P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,392,402 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,203,035 (GRCm39) |
L13P |
possibly damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,151 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,199,515 (GRCm39) |
I326T |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,226,110 (GRCm39) |
D195N |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,042,024 (GRCm39) |
C37S |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,006,408 (GRCm39) |
L1239P |
probably damaging |
Het |
| Mrps5 |
T |
A |
2: 127,445,644 (GRCm39) |
H390Q |
probably benign |
Het |
| Nphp3 |
T |
A |
9: 103,909,096 (GRCm39) |
C769S |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 59,006,620 (GRCm39) |
S1181P |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pabpc6 |
G |
T |
17: 9,888,386 (GRCm39) |
A55E |
probably damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,912 (GRCm39) |
E327V |
possibly damaging |
Het |
| Pds5b |
A |
G |
5: 150,652,407 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pi4ka |
A |
C |
16: 17,100,769 (GRCm39) |
I1807S |
|
Het |
| Pick1 |
T |
A |
15: 79,132,930 (GRCm39) |
I330N |
probably damaging |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rubcn |
A |
C |
16: 32,656,913 (GRCm39) |
C502W |
possibly damaging |
Het |
| Slc26a10 |
G |
A |
10: 127,009,834 (GRCm39) |
R571C |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,259,434 (GRCm39) |
N587Y |
probably damaging |
Het |
| Slfn2 |
T |
G |
11: 82,960,585 (GRCm39) |
V188G |
possibly damaging |
Het |
| Smok2b |
T |
C |
17: 13,454,680 (GRCm39) |
V280A |
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,348,761 (GRCm39) |
E798G |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,469,543 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
T |
C |
5: 87,390,235 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn1r160 |
T |
C |
7: 22,570,751 (GRCm39) |
F35L |
possibly damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,286 (GRCm39) |
Y235* |
probably null |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,843 (GRCm39) |
I659V |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,326,762 (GRCm39) |
D349G |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
probably benign |
Het |
| Zfp938 |
T |
C |
10: 82,062,419 (GRCm39) |
N67S |
possibly damaging |
Het |
|
| Other mutations in Bcl11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Bcl11a
|
APN |
11 |
24,113,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03190:Bcl11a
|
APN |
11 |
24,108,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0317:Bcl11a
|
UTSW |
11 |
24,122,697 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1061:Bcl11a
|
UTSW |
11 |
24,114,069 (GRCm39) |
nonsense |
probably null |
|
|
R1124:Bcl11a
|
UTSW |
11 |
24,113,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Bcl11a
|
UTSW |
11 |
24,115,143 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1498:Bcl11a
|
UTSW |
11 |
24,114,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Bcl11a
|
UTSW |
11 |
24,113,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Bcl11a
|
UTSW |
11 |
24,114,406 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1689:Bcl11a
|
UTSW |
11 |
24,113,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Bcl11a
|
UTSW |
11 |
24,114,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Bcl11a
|
UTSW |
11 |
24,114,087 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2207:Bcl11a
|
UTSW |
11 |
24,113,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3700:Bcl11a
|
UTSW |
11 |
24,113,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3779:Bcl11a
|
UTSW |
11 |
24,114,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4557:Bcl11a
|
UTSW |
11 |
24,114,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Bcl11a
|
UTSW |
11 |
24,113,725 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5006:Bcl11a
|
UTSW |
11 |
24,114,989 (GRCm39) |
nonsense |
probably null |
|
|
R5053:Bcl11a
|
UTSW |
11 |
24,114,068 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5495:Bcl11a
|
UTSW |
11 |
24,115,042 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5581:Bcl11a
|
UTSW |
11 |
24,113,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5680:Bcl11a
|
UTSW |
11 |
24,114,264 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5790:Bcl11a
|
UTSW |
11 |
24,113,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Bcl11a
|
UTSW |
11 |
24,108,321 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6723:Bcl11a
|
UTSW |
11 |
24,113,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Bcl11a
|
UTSW |
11 |
24,113,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Bcl11a
|
UTSW |
11 |
24,113,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7569:Bcl11a
|
UTSW |
11 |
24,035,458 (GRCm39) |
nonsense |
probably null |
|
|
R7843:Bcl11a
|
UTSW |
11 |
24,114,831 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7923:Bcl11a
|
UTSW |
11 |
24,113,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7964:Bcl11a
|
UTSW |
11 |
24,113,353 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8242:Bcl11a
|
UTSW |
11 |
24,113,208 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8338:Bcl11a
|
UTSW |
11 |
24,114,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Bcl11a
|
UTSW |
11 |
24,115,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Bcl11a
|
UTSW |
11 |
24,113,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8911:Bcl11a
|
UTSW |
11 |
24,114,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Bcl11a
|
UTSW |
11 |
24,114,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Bcl11a
|
UTSW |
11 |
24,115,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACGGCTCTCCCACAATTC -3'
(R):5'- ACACGGTTCATGTTTGAGAGG -3'
Sequencing Primer
(F):5'- ACAATTCATCTTCCCTGCGC -3'
(R):5'- ATGGGGGCTTTTTCCCTTTTTAATC -3'
|
| Posted On |
2020-10-23 |
Incidental Mutation