Incidental Mutation 'IGL02001:Bclaf1'
ID |
183054 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bclaf1
|
Ensembl Gene |
ENSMUSG00000037608 |
Gene Name |
BCL2-associated transcription factor 1 |
Synonyms |
2700025J07Rik, 2610102K23Rik, 5730534O06Rik, 2810454G14Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02001
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
20187897-20218390 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 20198762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043881]
[ENSMUST00000092678]
[ENSMUST00000185800]
[ENSMUST00000186100]
[ENSMUST00000189158]
[ENSMUST00000190156]
[ENSMUST00000191438]
|
AlphaFold |
Q8K019 |
Predicted Effect |
unknown
Transcript: ENSMUST00000043881
AA Change: Y53C
|
SMART Domains |
Protein: ENSMUSP00000043583 Gene: ENSMUSG00000037608 AA Change: Y53C
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
94 |
N/A |
INTRINSIC |
Pfam:THRAP3_BCLAF1
|
108 |
766 |
1.6e-181 |
PFAM |
low complexity region
|
793 |
824 |
N/A |
INTRINSIC |
low complexity region
|
861 |
874 |
N/A |
INTRINSIC |
low complexity region
|
898 |
919 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000092678
AA Change: Y53C
|
SMART Domains |
Protein: ENSMUSP00000090349 Gene: ENSMUSG00000037608 AA Change: Y53C
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
94 |
N/A |
INTRINSIC |
Pfam:THRAP3_BCLAF1
|
108 |
789 |
5.4e-191 |
PFAM |
low complexity region
|
812 |
825 |
N/A |
INTRINSIC |
low complexity region
|
849 |
870 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000185800
AA Change: Y51C
|
SMART Domains |
Protein: ENSMUSP00000140623 Gene: ENSMUSG00000037608 AA Change: Y51C
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
92 |
N/A |
INTRINSIC |
Pfam:THRAP3_BCLAF1
|
106 |
787 |
7.2e-191 |
PFAM |
low complexity region
|
791 |
822 |
N/A |
INTRINSIC |
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
low complexity region
|
896 |
917 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000186100
AA Change: Y53C
|
SMART Domains |
Protein: ENSMUSP00000140101 Gene: ENSMUSG00000037608 AA Change: Y53C
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
94 |
N/A |
INTRINSIC |
Pfam:THRAP3_BCLAF1
|
108 |
742 |
6.4e-177 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187338
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189158
|
Predicted Effect |
unknown
Transcript: ENSMUST00000190156
AA Change: Y51C
|
SMART Domains |
Protein: ENSMUSP00000140428 Gene: ENSMUSG00000037608 AA Change: Y51C
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
92 |
N/A |
INTRINSIC |
Pfam:THRAP3_BCLAF1
|
106 |
740 |
4.2e-180 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215262
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191438
|
SMART Domains |
Protein: ENSMUSP00000140702 Gene: ENSMUSG00000037608
Domain | Start | End | E-Value | Type |
Pfam:THRAP3_BCLAF1
|
1 |
502 |
1.3e-140 |
PFAM |
low complexity region
|
525 |
538 |
N/A |
INTRINSIC |
low complexity region
|
562 |
583 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, impaired lung development, and T cell and B cell homeostasis abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
T |
C |
17: 48,473,842 (GRCm39) |
N25S |
possibly damaging |
Het |
Als2 |
A |
T |
1: 59,219,347 (GRCm39) |
|
probably benign |
Het |
Asah2 |
T |
A |
19: 32,020,939 (GRCm39) |
K255* |
probably null |
Het |
Bpifb2 |
T |
C |
2: 153,733,195 (GRCm39) |
|
probably benign |
Het |
Cacna2d2 |
G |
A |
9: 107,399,315 (GRCm39) |
V669I |
probably benign |
Het |
Cep89 |
T |
A |
7: 35,102,432 (GRCm39) |
|
probably benign |
Het |
Chl1 |
T |
G |
6: 103,619,017 (GRCm39) |
L29R |
possibly damaging |
Het |
Defb2 |
T |
C |
8: 22,333,353 (GRCm39) |
Y43H |
probably damaging |
Het |
Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
Egf |
G |
T |
3: 129,510,417 (GRCm39) |
A34E |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,203,071 (GRCm39) |
M1K |
probably null |
Het |
Gprin1 |
T |
C |
13: 54,887,005 (GRCm39) |
E423G |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,918,375 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,798,164 (GRCm39) |
E925G |
probably damaging |
Het |
Kctd16 |
A |
T |
18: 40,391,733 (GRCm39) |
K107I |
possibly damaging |
Het |
Lrig1 |
T |
C |
6: 94,584,305 (GRCm39) |
K913R |
probably benign |
Het |
Marchf7 |
A |
G |
2: 60,065,235 (GRCm39) |
T504A |
possibly damaging |
Het |
Mrpl11 |
C |
T |
19: 5,013,680 (GRCm39) |
R154* |
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,149,394 (GRCm39) |
F334L |
probably benign |
Het |
Or2z2 |
C |
T |
11: 58,346,335 (GRCm39) |
V147M |
probably benign |
Het |
Or55b10 |
T |
A |
7: 102,143,746 (GRCm39) |
T79S |
probably benign |
Het |
Parp6 |
A |
G |
9: 59,557,244 (GRCm39) |
T610A |
possibly damaging |
Het |
Pcdhb15 |
T |
G |
18: 37,607,091 (GRCm39) |
L108V |
probably benign |
Het |
Pomgnt1 |
G |
T |
4: 116,010,105 (GRCm39) |
E156* |
probably null |
Het |
Psma2 |
T |
G |
13: 14,798,192 (GRCm39) |
F105V |
possibly damaging |
Het |
Rapgef4 |
A |
G |
2: 72,055,396 (GRCm39) |
|
probably benign |
Het |
Sclt1 |
A |
T |
3: 41,636,156 (GRCm39) |
S282T |
possibly damaging |
Het |
Semp2l2b |
A |
T |
10: 21,943,176 (GRCm39) |
M268K |
probably benign |
Het |
Serpina3f |
A |
G |
12: 104,185,725 (GRCm39) |
Y310C |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,261,886 (GRCm39) |
K331R |
probably damaging |
Het |
Tectb |
T |
C |
19: 55,178,027 (GRCm39) |
F183L |
possibly damaging |
Het |
Tgfbr1 |
A |
G |
4: 47,403,388 (GRCm39) |
H327R |
probably damaging |
Het |
Try10 |
T |
A |
6: 41,333,523 (GRCm39) |
D89E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,587,128 (GRCm39) |
S21623L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,612,282 (GRCm39) |
L15489P |
probably damaging |
Het |
Vdac3-ps1 |
A |
G |
13: 18,205,973 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r69 |
T |
A |
7: 85,056,434 (GRCm39) |
Q568L |
probably benign |
Het |
Wdr36 |
T |
A |
18: 32,985,941 (GRCm39) |
D548E |
probably damaging |
Het |
Zfand4 |
T |
A |
6: 116,250,613 (GRCm39) |
H14Q |
probably benign |
Het |
|
Other mutations in Bclaf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00341:Bclaf1
|
APN |
10 |
20,201,745 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01087:Bclaf1
|
APN |
10 |
20,201,056 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02380:Bclaf1
|
APN |
10 |
20,201,113 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02618:Bclaf1
|
APN |
10 |
20,199,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R0629:Bclaf1
|
UTSW |
10 |
20,209,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R0884:Bclaf1
|
UTSW |
10 |
20,197,822 (GRCm39) |
nonsense |
probably null |
|
R1013:Bclaf1
|
UTSW |
10 |
20,207,822 (GRCm39) |
splice site |
probably benign |
|
R1611:Bclaf1
|
UTSW |
10 |
20,198,998 (GRCm39) |
unclassified |
probably benign |
|
R2228:Bclaf1
|
UTSW |
10 |
20,215,624 (GRCm39) |
utr 3 prime |
probably benign |
|
R3689:Bclaf1
|
UTSW |
10 |
20,201,143 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3690:Bclaf1
|
UTSW |
10 |
20,201,143 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4290:Bclaf1
|
UTSW |
10 |
20,199,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R4292:Bclaf1
|
UTSW |
10 |
20,199,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Bclaf1
|
UTSW |
10 |
20,197,872 (GRCm39) |
unclassified |
probably benign |
|
R5238:Bclaf1
|
UTSW |
10 |
20,208,130 (GRCm39) |
intron |
probably benign |
|
R5254:Bclaf1
|
UTSW |
10 |
20,199,282 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5354:Bclaf1
|
UTSW |
10 |
20,209,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Bclaf1
|
UTSW |
10 |
20,201,338 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5712:Bclaf1
|
UTSW |
10 |
20,209,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R5982:Bclaf1
|
UTSW |
10 |
20,198,809 (GRCm39) |
nonsense |
probably null |
|
R6147:Bclaf1
|
UTSW |
10 |
20,199,171 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6218:Bclaf1
|
UTSW |
10 |
20,210,374 (GRCm39) |
missense |
probably benign |
0.27 |
R6284:Bclaf1
|
UTSW |
10 |
20,197,906 (GRCm39) |
splice site |
probably null |
|
R6738:Bclaf1
|
UTSW |
10 |
20,199,515 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7085:Bclaf1
|
UTSW |
10 |
20,197,768 (GRCm39) |
missense |
unknown |
|
R7768:Bclaf1
|
UTSW |
10 |
20,215,517 (GRCm39) |
missense |
probably benign |
0.18 |
R7814:Bclaf1
|
UTSW |
10 |
20,210,365 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8699:Bclaf1
|
UTSW |
10 |
20,209,184 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9640:Bclaf1
|
UTSW |
10 |
20,201,553 (GRCm39) |
critical splice donor site |
probably null |
|
R9747:Bclaf1
|
UTSW |
10 |
20,207,892 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Posted On |
2014-05-07 |