Incidental Mutation 'R2036:Bcl11a'
| ID |
224671 |
| 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 |
040043-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
24028056-24124123 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24114087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 477
(N477Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000881]
[ENSMUST00000109514]
[ENSMUST00000109516]
[ENSMUST00000118955]
|
| AlphaFold |
Q9QYE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000881
AA Change: N477Y
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: N477Y
| 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 |
possibly damaging
Transcript: ENSMUST00000109514
AA Change: N477Y
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: N477Y
| 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
|
| Meta Mutation Damage Score |
0.1399 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930415H17Rik |
C |
T |
11: 99,576,358 (GRCm39) |
C3Y |
unknown |
Het |
| Abr |
G |
T |
11: 76,343,176 (GRCm39) |
T547K |
probably benign |
Het |
| Akr1c21 |
T |
C |
13: 4,626,305 (GRCm39) |
Y110H |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,705,689 (GRCm39) |
K556* |
probably null |
Het |
| Anks1b |
T |
C |
10: 90,805,715 (GRCm39) |
V431A |
probably damaging |
Het |
| Ap5b1 |
T |
C |
19: 5,618,897 (GRCm39) |
S106P |
possibly damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,917,717 (GRCm39) |
N156D |
possibly damaging |
Het |
| Arhgap35 |
T |
C |
7: 16,297,058 (GRCm39) |
E669G |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,932,318 (GRCm39) |
M201V |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg4c |
C |
T |
4: 99,106,376 (GRCm39) |
T112M |
possibly damaging |
Het |
| Brinp3 |
A |
T |
1: 146,577,579 (GRCm39) |
I205F |
possibly damaging |
Het |
| Capza2 |
T |
C |
6: 17,660,777 (GRCm39) |
F159S |
probably damaging |
Het |
| Cd40 |
T |
C |
2: 164,904,221 (GRCm39) |
C61R |
probably benign |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,301,822 (GRCm39) |
I415T |
possibly damaging |
Het |
| Clnk |
A |
T |
5: 38,910,143 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
C |
T |
2: 172,943,778 (GRCm39) |
R524Q |
possibly damaging |
Het |
| Cyb5r4 |
T |
G |
9: 86,924,932 (GRCm39) |
|
probably benign |
Het |
| Ddb1 |
T |
A |
19: 10,588,186 (GRCm39) |
|
probably benign |
Het |
| Ddx51 |
C |
A |
5: 110,804,491 (GRCm39) |
Q526K |
probably benign |
Het |
| Dennd6a |
A |
T |
14: 26,329,274 (GRCm39) |
Q56L |
probably damaging |
Het |
| Dhdds |
T |
C |
4: 133,698,410 (GRCm39) |
E142G |
probably damaging |
Het |
| Dnai1 |
A |
G |
4: 41,632,225 (GRCm39) |
H553R |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,179,887 (GRCm39) |
N2908S |
probably benign |
Het |
| Fryl |
C |
A |
5: 73,265,305 (GRCm39) |
|
probably null |
Het |
| Fut9 |
A |
G |
4: 25,620,322 (GRCm39) |
I164T |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,568,118 (GRCm39) |
|
probably benign |
Het |
| Gm11627 |
C |
T |
11: 102,467,580 (GRCm39) |
V33I |
unknown |
Het |
| Helz2 |
T |
A |
2: 180,879,272 (GRCm39) |
H782L |
probably benign |
Het |
| Kcnmb3 |
A |
G |
3: 32,526,531 (GRCm39) |
V220A |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,761,515 (GRCm39) |
S303P |
possibly damaging |
Het |
| Kif22 |
A |
T |
7: 126,630,126 (GRCm39) |
V470E |
possibly damaging |
Het |
| Majin |
C |
T |
19: 6,263,342 (GRCm39) |
T132M |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,688,671 (GRCm39) |
|
probably null |
Het |
| Mkrn2 |
C |
A |
6: 115,588,875 (GRCm39) |
P206Q |
probably benign |
Het |
| Mphosph9 |
G |
A |
5: 124,442,274 (GRCm39) |
T358M |
probably damaging |
Het |
| Nkd1 |
A |
G |
8: 89,318,305 (GRCm39) |
D210G |
probably damaging |
Het |
| Or4c110 |
C |
T |
2: 88,831,976 (GRCm39) |
V219I |
probably damaging |
Het |
| Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Or5ae2 |
G |
T |
7: 84,505,566 (GRCm39) |
|
probably benign |
Het |
| Or5b95 |
G |
C |
19: 12,658,165 (GRCm39) |
G231A |
probably damaging |
Het |
| Or5p69 |
T |
A |
7: 107,966,947 (GRCm39) |
N83K |
probably benign |
Het |
| Or6c35 |
G |
A |
10: 129,169,541 (GRCm39) |
D264N |
probably benign |
Het |
| Or9s15 |
A |
T |
1: 92,524,328 (GRCm39) |
E29V |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,120,976 (GRCm39) |
Y63H |
probably damaging |
Het |
| Plekha1 |
A |
G |
7: 130,503,922 (GRCm39) |
R210G |
probably damaging |
Het |
| Ppp2r2c |
C |
T |
5: 37,109,748 (GRCm39) |
T369I |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,670,979 (GRCm39) |
D1029G |
probably damaging |
Het |
| Rmnd1 |
T |
C |
10: 4,357,884 (GRCm39) |
D12G |
probably damaging |
Het |
| Rtn2 |
A |
G |
7: 19,027,664 (GRCm39) |
K120E |
probably damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,873,508 (GRCm39) |
S30P |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,986 (GRCm39) |
E795G |
possibly damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,457,128 (GRCm39) |
Y177F |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,765,372 (GRCm39) |
D2529E |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,513,417 (GRCm39) |
Y409H |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,058,876 (GRCm39) |
V323D |
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 |
|
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 |
|
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'- CTGAAGCGTCACATGAAGACAC -3'
(R):5'- AAGTGCTGCATGGAGCTGAG -3'
Sequencing Primer
(F):5'- GCGTCACATGAAGACACACATG -3'
(R):5'- TGCCCTGCATGACATCG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation