Incidental Mutation 'R1689:Bcl11a'
| ID |
189582 |
| 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 |
039722-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1689 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
24028056-24124123 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24113167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 170
(Y170F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000881]
[ENSMUST00000109514]
[ENSMUST00000109516]
[ENSMUST00000118955]
|
| AlphaFold |
Q9QYE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000881
AA Change: Y170F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: Y170F
| 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: Y170F
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: Y170F
| 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: Y170F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105142
Gene: ENSMUSG00000000861
AA Change: Y170F
| 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 |
possibly damaging
Transcript: ENSMUST00000118955
AA Change: Y118F
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112948
Gene: ENSMUSG00000000861
AA Change: Y118F
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| 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 |
|---|
| Abcc8 |
T |
C |
7: 45,769,827 (GRCm39) |
K896R |
probably benign |
Het |
| Adcy9 |
A |
T |
16: 4,115,426 (GRCm39) |
|
probably null |
Het |
| Adgre1 |
T |
C |
17: 57,756,921 (GRCm39) |
F726S |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,595,948 (GRCm39) |
S148T |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Ammecr1l |
C |
A |
18: 31,913,741 (GRCm39) |
A289D |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,504,518 (GRCm39) |
Y230C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,682,187 (GRCm39) |
S65R |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,084,575 (GRCm39) |
Y1440* |
probably null |
Het |
| Atf6b |
T |
A |
17: 34,869,276 (GRCm39) |
D164E |
probably damaging |
Het |
| B4galt6 |
C |
T |
18: 20,839,553 (GRCm39) |
S127N |
probably benign |
Het |
| Btnl1 |
T |
A |
17: 34,600,182 (GRCm39) |
Y228* |
probably null |
Het |
| Cav2 |
A |
G |
6: 17,281,421 (GRCm39) |
H21R |
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,314,620 (GRCm39) |
D1135V |
possibly damaging |
Het |
| Cntnap1 |
A |
C |
11: 101,079,699 (GRCm39) |
|
probably null |
Het |
| Cysltr2 |
T |
C |
14: 73,267,470 (GRCm39) |
D80G |
possibly damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dgkh |
A |
T |
14: 78,855,984 (GRCm39) |
M363K |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,797,194 (GRCm39) |
V1112M |
probably damaging |
Het |
| Entpd7 |
A |
G |
19: 43,713,915 (GRCm39) |
T425A |
probably damaging |
Het |
| Ephx2 |
T |
A |
14: 66,324,475 (GRCm39) |
K373* |
probably null |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,750,862 (GRCm39) |
I482L |
probably damaging |
Het |
| Fbxw8 |
T |
C |
5: 118,215,682 (GRCm39) |
S443G |
probably damaging |
Het |
| Fdft1 |
T |
C |
14: 63,394,138 (GRCm39) |
E191G |
probably benign |
Het |
| Fgd2 |
A |
G |
17: 29,582,696 (GRCm39) |
E26G |
probably benign |
Het |
| Gabra4 |
T |
C |
5: 71,790,885 (GRCm39) |
|
probably null |
Het |
| Gc |
A |
G |
5: 89,589,059 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,439,506 (GRCm39) |
D1361E |
probably benign |
Het |
| Hid1 |
A |
G |
11: 115,251,183 (GRCm39) |
F118L |
probably damaging |
Het |
| Igsf8 |
G |
T |
1: 172,146,504 (GRCm39) |
G564W |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,313,744 (GRCm39) |
V4A |
probably benign |
Het |
| Irak3 |
T |
C |
10: 119,982,457 (GRCm39) |
E335G |
probably damaging |
Het |
| Itgb8 |
T |
G |
12: 119,134,555 (GRCm39) |
Q504P |
probably benign |
Het |
| Kbtbd12 |
A |
T |
6: 88,595,567 (GRCm39) |
Y88N |
probably damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,869,969 (GRCm39) |
I226T |
probably damaging |
Het |
| L3hypdh |
A |
T |
12: 72,131,527 (GRCm39) |
I135N |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,333,873 (GRCm39) |
T1456K |
probably benign |
Het |
| Mrgprd |
C |
A |
7: 144,875,454 (GRCm39) |
Y108* |
probably null |
Het |
| Muc6 |
C |
T |
7: 141,234,265 (GRCm39) |
G742D |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,522,666 (GRCm39) |
I1572F |
probably damaging |
Het |
| Nceh1 |
A |
G |
3: 27,280,231 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or14j1 |
T |
C |
17: 38,146,495 (GRCm39) |
S202P |
possibly damaging |
Het |
| Or1ak2 |
A |
G |
2: 36,827,989 (GRCm39) |
N286S |
probably damaging |
Het |
| Or7d11 |
A |
T |
9: 19,966,422 (GRCm39) |
N112K |
possibly damaging |
Het |
| Pacs1 |
G |
T |
19: 5,322,643 (GRCm39) |
|
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,784,968 (GRCm39) |
L14P |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,408,688 (GRCm39) |
G176D |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,694,376 (GRCm39) |
K169I |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,345,412 (GRCm39) |
F5L |
probably benign |
Het |
| Qrfprl |
A |
G |
6: 65,358,591 (GRCm39) |
N105S |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,552 (GRCm39) |
L2114P |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Senp2 |
T |
A |
16: 21,845,416 (GRCm39) |
Y217N |
probably damaging |
Het |
| Sned1 |
C |
T |
1: 93,211,094 (GRCm39) |
R1061C |
probably damaging |
Het |
| Spag16 |
C |
T |
1: 70,500,277 (GRCm39) |
T535I |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,619,583 (GRCm39) |
L355* |
probably null |
Het |
| Tmem132b |
A |
G |
5: 125,864,678 (GRCm39) |
H928R |
possibly damaging |
Het |
| Tpo |
A |
T |
12: 30,148,245 (GRCm39) |
L552H |
probably damaging |
Het |
| Tsfm |
A |
T |
10: 126,864,324 (GRCm39) |
N130K |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,383,418 (GRCm39) |
|
probably null |
Het |
| Vsig10 |
A |
G |
5: 117,490,825 (GRCm39) |
D544G |
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,114,792 (GRCm39) |
T433I |
possibly damaging |
Het |
| Wdr81 |
A |
G |
11: 75,336,422 (GRCm39) |
F1655L |
probably damaging |
Het |
| Wfdc3 |
T |
A |
2: 164,576,111 (GRCm39) |
D60V |
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 |
|
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 |
|
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'- AGAGCTGAAATGACTTGCTGAGACC -3'
(R):5'- TGCACCTAGTCCTGAAGGGATACC -3'
Sequencing Primer
(F):5'- GACTTGCTGAGACCCCTAGAATG -3'
(R):5'- CTGAAGGGATACCAACCCG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation