Incidental Mutation 'R5495:Bcl11a'
ID |
432300 |
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 |
043056-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5495 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
24028056-24124123 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24115042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 795
(V795E)
|
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
|
SMART Domains |
Protein: ENSMUSP00000000881 Gene: ENSMUSG00000000861
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: V795E
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105140 Gene: ENSMUSG00000000861 AA Change: V795E
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: 98.4%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
T |
C |
7: 27,335,594 (GRCm39) |
|
probably null |
Het |
Arhgap29 |
T |
G |
3: 121,808,578 (GRCm39) |
M844R |
probably damaging |
Het |
Atp1a1 |
T |
G |
3: 101,498,741 (GRCm39) |
D184A |
probably benign |
Het |
Casp12 |
T |
A |
9: 5,353,797 (GRCm39) |
I277N |
possibly damaging |
Het |
Ccdc59 |
A |
G |
10: 105,681,239 (GRCm39) |
K164E |
probably damaging |
Het |
D630003M21Rik |
C |
T |
2: 158,062,431 (GRCm39) |
G30S |
possibly damaging |
Het |
Dgkd |
A |
G |
1: 87,854,594 (GRCm39) |
D632G |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,687,258 (GRCm39) |
K56E |
possibly damaging |
Het |
Egflam |
T |
A |
15: 7,280,722 (GRCm39) |
R434S |
probably damaging |
Het |
Fancl |
C |
G |
11: 26,347,801 (GRCm39) |
A51G |
probably damaging |
Het |
Fkbp7 |
T |
C |
2: 76,493,638 (GRCm39) |
Y185C |
probably damaging |
Het |
Galc |
A |
G |
12: 98,197,673 (GRCm39) |
|
probably null |
Het |
Galnt15 |
A |
G |
14: 31,751,774 (GRCm39) |
S109G |
probably damaging |
Het |
Gramd2b |
T |
C |
18: 56,615,694 (GRCm39) |
I163T |
probably damaging |
Het |
Impa1 |
A |
G |
3: 10,391,230 (GRCm39) |
V80A |
probably benign |
Het |
Itga10 |
T |
C |
3: 96,554,687 (GRCm39) |
M56T |
possibly damaging |
Het |
Larp1b |
G |
T |
3: 40,990,257 (GRCm39) |
R135I |
probably damaging |
Het |
Lgals12 |
C |
T |
19: 7,581,495 (GRCm39) |
A71T |
probably damaging |
Het |
Lmbr1 |
A |
T |
5: 29,551,851 (GRCm39) |
L78* |
probably null |
Het |
Lrat |
C |
A |
3: 82,804,289 (GRCm39) |
M229I |
probably benign |
Het |
Mug2 |
A |
T |
6: 122,056,609 (GRCm39) |
M1185L |
probably damaging |
Het |
Naprt |
T |
C |
15: 75,765,696 (GRCm39) |
|
probably null |
Het |
Nfat5 |
A |
G |
8: 108,095,079 (GRCm39) |
I1107V |
probably benign |
Het |
Nr4a2 |
T |
C |
2: 57,002,387 (GRCm39) |
Y22C |
probably damaging |
Het |
Ogfod1 |
C |
A |
8: 94,790,906 (GRCm39) |
Q526K |
probably benign |
Het |
Or2d4 |
C |
A |
7: 106,543,699 (GRCm39) |
G170* |
probably null |
Het |
Or3a10 |
G |
A |
11: 73,935,611 (GRCm39) |
T163I |
probably damaging |
Het |
Or4p21 |
T |
C |
2: 88,276,401 (GRCm39) |
T294A |
probably benign |
Het |
Or8g36 |
T |
C |
9: 39,422,441 (GRCm39) |
T192A |
probably benign |
Het |
Parp10 |
T |
G |
15: 76,127,366 (GRCm39) |
I24L |
probably benign |
Het |
Pcdha11 |
A |
G |
18: 37,144,079 (GRCm39) |
T57A |
probably benign |
Het |
Prdm8 |
A |
G |
5: 98,333,165 (GRCm39) |
E244G |
possibly damaging |
Het |
Prl6a1 |
T |
C |
13: 27,496,654 (GRCm39) |
S3P |
possibly damaging |
Het |
Rab11fip3 |
T |
A |
17: 26,235,117 (GRCm39) |
T18S |
probably damaging |
Het |
Rfc4 |
T |
C |
16: 22,941,004 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
G |
T |
14: 75,279,777 (GRCm39) |
V387F |
possibly damaging |
Het |
S100a7l2 |
A |
T |
3: 90,997,602 (GRCm39) |
L38M |
possibly damaging |
Het |
Serpinb12 |
T |
C |
1: 106,884,151 (GRCm39) |
L299P |
probably damaging |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Taar4 |
A |
T |
10: 23,837,181 (GRCm39) |
I264F |
possibly damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Thsd7b |
T |
A |
1: 129,523,570 (GRCm39) |
H124Q |
probably damaging |
Het |
Ugt1a6a |
A |
T |
1: 88,066,746 (GRCm39) |
Q184L |
probably benign |
Het |
Vnn1 |
T |
A |
10: 23,774,462 (GRCm39) |
F168L |
probably damaging |
Het |
Zan |
A |
G |
5: 137,468,670 (GRCm39) |
L267P |
probably damaging |
Het |
Zswim8 |
A |
G |
14: 20,772,354 (GRCm39) |
S1621G |
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 |
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'- ACGCCCCATATTAGTGGTCC -3'
(R):5'- TGCTGGTGACAAGCACTCATTC -3'
Sequencing Primer
(F):5'- ATATTAGTGGTCCGGGCCC -3'
(R):5'- CTGGTGACAAGCACTCATTCATATTC -3'
|
Posted On |
2016-10-05 |