Incidental Mutation 'R7274:Bcl11a'
| ID |
565465 |
| 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 |
067851-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7274 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
24028056-24124123 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24113985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 443
(S443P)
|
| 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: S443P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: S443P
| 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: S443P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: S443P
| 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 |
|
| Meta Mutation Damage Score |
0.1486 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
T |
C |
8: 121,338,005 (GRCm39) |
S69G |
possibly damaging |
Het |
| Alg12 |
G |
A |
15: 88,690,910 (GRCm39) |
S337F |
probably damaging |
Het |
| C1qtnf4 |
T |
C |
2: 90,719,885 (GRCm39) |
Y53H |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,864,600 (GRCm39) |
E454V |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,597,811 (GRCm39) |
F1761S |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,261,023 (GRCm39) |
I1344F |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,307,235 (GRCm39) |
N33D |
probably benign |
Het |
| Cdh17 |
C |
T |
4: 11,783,174 (GRCm39) |
Q172* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,386,675 (GRCm39) |
I274V |
probably benign |
Het |
| Cog2 |
T |
G |
8: 125,262,258 (GRCm39) |
S299A |
possibly damaging |
Het |
| Cpa6 |
C |
A |
1: 10,479,524 (GRCm39) |
M236I |
probably damaging |
Het |
| Crym |
T |
A |
7: 119,789,742 (GRCm39) |
Q242L |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
| Eif4a3l1 |
A |
G |
6: 136,306,396 (GRCm39) |
T286A |
possibly damaging |
Het |
| Epdr1 |
A |
T |
13: 19,777,458 (GRCm39) |
I180N |
possibly damaging |
Het |
| Fancd2os |
G |
A |
6: 113,574,851 (GRCm39) |
L52F |
probably benign |
Het |
| Fbxo16 |
C |
A |
14: 65,558,716 (GRCm39) |
R292S |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,667,272 (GRCm39) |
Q820R |
probably benign |
Het |
| Gm4131 |
T |
A |
14: 62,704,301 (GRCm39) |
Y140F |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,396,986 (GRCm39) |
R1034G |
possibly damaging |
Het |
| Hypk |
A |
G |
2: 121,284,805 (GRCm39) |
|
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,314,951 (GRCm39) |
V823A |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,534,039 (GRCm39) |
N95S |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,125,360 (GRCm39) |
M379K |
probably benign |
Het |
| Kif19a |
G |
T |
11: 114,656,281 (GRCm39) |
|
probably benign |
Het |
| Klhdc4 |
T |
C |
8: 122,526,397 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 26,995,976 (GRCm39) |
I1717N |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,968,295 (GRCm39) |
Q1479L |
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,288,410 (GRCm39) |
T745S |
probably damaging |
Het |
| Lifr |
T |
A |
15: 7,196,540 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
C |
T |
11: 60,596,812 (GRCm39) |
R138C |
possibly damaging |
Het |
| Mccc1 |
A |
T |
3: 36,044,005 (GRCm39) |
V246E |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,725,944 (GRCm39) |
L2621H |
probably benign |
Het |
| Mecr |
C |
A |
4: 131,581,089 (GRCm39) |
A80D |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,154,905 (GRCm39) |
E206G |
probably damaging |
Het |
| Nubpl |
A |
G |
12: 52,179,203 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
T |
11: 59,024,053 (GRCm39) |
R539H |
probably damaging |
Het |
| Or4n4b |
T |
A |
14: 50,535,879 (GRCm39) |
T296S |
probably benign |
Het |
| Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
| Pde5a |
A |
T |
3: 122,648,895 (GRCm39) |
K838* |
probably null |
Het |
| Pgm3 |
A |
G |
9: 86,444,650 (GRCm39) |
L295P |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,064,793 (GRCm39) |
L439P |
possibly damaging |
Het |
| Polr1a |
T |
A |
6: 71,897,500 (GRCm39) |
C205* |
probably null |
Het |
| Rab3gap1 |
T |
A |
1: 127,855,249 (GRCm39) |
I429K |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,761,295 (GRCm39) |
V207A |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,530 (GRCm39) |
D4525E |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,598,082 (GRCm39) |
L864Q |
probably damaging |
Het |
| Spats2l |
C |
A |
1: 57,918,672 (GRCm39) |
Y35* |
probably null |
Het |
| Sptlc2 |
A |
T |
12: 87,388,380 (GRCm39) |
D367E |
probably benign |
Het |
| Ssc4d |
T |
C |
5: 135,996,810 (GRCm39) |
D97G |
possibly damaging |
Het |
| Tjp1 |
A |
G |
7: 65,177,400 (GRCm39) |
Y3H |
possibly damaging |
Het |
| Tkt |
T |
A |
14: 30,291,102 (GRCm39) |
|
probably null |
Het |
| Trim60 |
T |
A |
8: 65,453,133 (GRCm39) |
N372I |
possibly damaging |
Het |
| Trpm2 |
T |
C |
10: 77,759,389 (GRCm39) |
N1132D |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,654,154 (GRCm39) |
I211T |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,180,088 (GRCm39) |
K132E |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,553,932 (GRCm39) |
V30924I |
probably damaging |
Het |
| Tubgcp6 |
G |
A |
15: 88,987,173 (GRCm39) |
Q1267* |
probably null |
Het |
| Zfp30 |
C |
A |
7: 29,492,043 (GRCm39) |
T180N |
probably benign |
Het |
| Zp2 |
A |
G |
7: 119,731,614 (GRCm39) |
*714R |
probably null |
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 |
|
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'- CGTTCAAATTTCAGAGCAACTTGGTG -3'
(R):5'- AGAGCTGTTCTCATGGTGGC -3'
Sequencing Primer
(F):5'- CAGAGCAACTTGGTGGTTCAC -3'
(R):5'- GAAGCCGTAGTCCACCCTCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation