Incidental Mutation 'R6723:Bcl11a'
| ID |
529703 |
| 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 |
044841-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
24028056-24124123 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24113646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 330
(P330T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000881]
[ENSMUST00000109514]
[ENSMUST00000109516]
[ENSMUST00000118955]
|
| AlphaFold |
Q9QYE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000881
AA Change: P330T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: P330T
| 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 damaging
Transcript: ENSMUST00000109514
AA Change: P330T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: P330T
| 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 benign
Transcript: ENSMUST00000109516
|
| SMART Domains |
Protein: ENSMUSP00000105142
Gene: ENSMUSG00000000861
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146717
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| 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 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
A |
G |
12: 112,745,228 (GRCm39) |
S740P |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Cyp2d12 |
A |
T |
15: 82,441,085 (GRCm39) |
I124F |
probably benign |
Het |
| Dhdds |
T |
C |
4: 133,721,576 (GRCm39) |
T74A |
probably damaging |
Het |
| Dio3 |
G |
A |
12: 110,245,991 (GRCm39) |
C109Y |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 105,007,906 (GRCm39) |
T329S |
possibly damaging |
Het |
| Esp1 |
A |
T |
17: 41,039,747 (GRCm39) |
I11L |
probably benign |
Het |
| Fam13b |
A |
T |
18: 34,631,079 (GRCm39) |
H33Q |
possibly damaging |
Het |
| Fam13c |
G |
A |
10: 70,390,355 (GRCm39) |
D539N |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,965,011 (GRCm39) |
T257A |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,844,453 (GRCm39) |
D603G |
probably benign |
Het |
| Gtpbp2 |
T |
C |
17: 46,479,202 (GRCm39) |
V588A |
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,252,090 (GRCm39) |
I312M |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,450,640 (GRCm39) |
N571S |
probably damaging |
Het |
| Iqgap1 |
T |
G |
7: 80,373,570 (GRCm39) |
D1473A |
probably benign |
Het |
| Ivl |
T |
G |
3: 92,478,694 (GRCm39) |
K457T |
unknown |
Het |
| Kdm3b |
T |
C |
18: 34,926,058 (GRCm39) |
I66T |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,824,649 (GRCm39) |
M1430K |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,515,739 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,085,099 (GRCm39) |
M163K |
probably benign |
Het |
| Lrig1 |
T |
C |
6: 94,603,386 (GRCm39) |
D254G |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,729,387 (GRCm39) |
I122V |
possibly damaging |
Het |
| Mrpl15 |
A |
C |
1: 4,852,789 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,750,258 (GRCm39) |
Y1199C |
possibly damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,456,018 (GRCm39) |
C938Y |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,368,118 (GRCm39) |
N623D |
probably damaging |
Het |
| Obscn |
T |
G |
11: 58,945,824 (GRCm39) |
E4129A |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,795 (GRCm39) |
C189S |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4d11 |
A |
G |
19: 12,013,639 (GRCm39) |
S156P |
probably damaging |
Het |
| Or5k1 |
T |
C |
16: 58,617,795 (GRCm39) |
K138R |
probably benign |
Het |
| Or6c65 |
A |
T |
10: 129,604,284 (GRCm39) |
L306F |
probably benign |
Het |
| Parm1 |
C |
T |
5: 91,770,856 (GRCm39) |
P291S |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,241,188 (GRCm39) |
|
probably null |
Het |
| Pgap6 |
C |
A |
17: 26,339,610 (GRCm39) |
T616N |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Piezo1 |
T |
G |
8: 123,234,366 (GRCm39) |
Q93H |
probably benign |
Het |
| Pkd2l2 |
A |
T |
18: 34,571,210 (GRCm39) |
Y575F |
probably damaging |
Het |
| Plekhn1 |
A |
C |
4: 156,309,026 (GRCm39) |
F258C |
probably damaging |
Het |
| Pole |
C |
T |
5: 110,471,482 (GRCm39) |
H1409Y |
probably benign |
Het |
| Rae1 |
T |
C |
2: 172,854,041 (GRCm39) |
I273T |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,473,990 (GRCm39) |
V384A |
probably damaging |
Het |
| Rnaseh1 |
T |
C |
12: 28,699,761 (GRCm39) |
L25P |
probably damaging |
Het |
| Serpinb12 |
A |
G |
1: 106,876,888 (GRCm39) |
H68R |
probably benign |
Het |
| Sh3tc2 |
A |
T |
18: 62,111,025 (GRCm39) |
I294F |
probably damaging |
Het |
| Sirpb1b |
A |
C |
3: 15,613,858 (GRCm39) |
L75V |
possibly damaging |
Het |
| Slc12a6 |
A |
T |
2: 112,168,287 (GRCm39) |
T277S |
probably damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,564,257 (GRCm39) |
E43D |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,758 (GRCm39) |
D433E |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,125,657 (GRCm39) |
Y2451C |
possibly damaging |
Het |
| Tbl2 |
A |
T |
5: 135,188,130 (GRCm39) |
Y308F |
probably damaging |
Het |
| Tfec |
T |
C |
6: 16,835,301 (GRCm39) |
Y159C |
probably damaging |
Het |
| Top1mt |
G |
T |
15: 75,539,282 (GRCm39) |
T371K |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,928,403 (GRCm39) |
V541A |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,658,049 (GRCm39) |
Y456C |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,600,441 (GRCm39) |
R17204* |
probably null |
Het |
| Ugt1a6b |
T |
C |
1: 88,035,439 (GRCm39) |
V259A |
probably benign |
Het |
| Unc5a |
T |
C |
13: 55,143,702 (GRCm39) |
W129R |
probably benign |
Het |
| Vmn1r63 |
T |
A |
7: 5,805,948 (GRCm39) |
H228L |
probably damaging |
Het |
| Whamm |
G |
T |
7: 81,245,868 (GRCm39) |
V775F |
probably damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,256,638 (GRCm39) |
I1536N |
probably benign |
Het |
| Zfp1 |
T |
C |
8: 112,396,971 (GRCm39) |
S317P |
probably damaging |
Het |
| Zfp58 |
T |
C |
13: 67,642,192 (GRCm39) |
T52A |
probably 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 |
|
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 |
|
R8211:Bcl11a
|
UTSW |
11 |
24,028,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CACCGAGACATCACTTGGAC -3'
(R):5'- TTCTCACCAGTATGGCTGC -3'
Sequencing Primer
(F):5'- TTGGACCCCCACCGCATAG -3'
(R):5'- GTGAACCACCAAGTTGCTCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation