Incidental Mutation 'IGL02380:Bclaf1'
| ID |
291351 |
| 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 # |
IGL02380
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
20187897-20218390 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20201113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 413
(V413A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043881]
[ENSMUST00000092678]
[ENSMUST00000185800]
[ENSMUST00000186100]
[ENSMUST00000189158]
[ENSMUST00000190156]
[ENSMUST00000191438]
|
| AlphaFold |
Q8K019 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043881
AA Change: V413A
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
AA Change: V413A
| 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 |
possibly damaging
Transcript: ENSMUST00000092678
AA Change: V413A
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608
AA Change: V413A
| 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 |
possibly damaging
Transcript: ENSMUST00000185800
AA Change: V411A
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
AA Change: V411A
| 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 |
possibly damaging
Transcript: ENSMUST00000186100
AA Change: V413A
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140101
Gene: ENSMUSG00000037608
AA Change: V413A
| 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 |
possibly damaging
Transcript: ENSMUST00000190156
AA Change: V411A
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140428
Gene: ENSMUSG00000037608
AA Change: V411A
| 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 |
possibly damaging
Transcript: ENSMUST00000191438
AA Change: V126A
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140702
Gene: ENSMUSG00000037608
AA Change: V126A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191143
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
A |
7: 40,643,968 (GRCm39) |
P546T |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,241,599 (GRCm39) |
I1154T |
possibly damaging |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acsm5 |
A |
T |
7: 119,136,509 (GRCm39) |
Q360L |
probably benign |
Het |
| Adamtsl5 |
T |
C |
10: 80,177,612 (GRCm39) |
E350G |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,534,125 (GRCm39) |
L1017* |
probably null |
Het |
| Aqr |
T |
C |
2: 113,940,417 (GRCm39) |
D1243G |
probably damaging |
Het |
| Arhgef17 |
G |
T |
7: 100,578,650 (GRCm39) |
P766Q |
possibly damaging |
Het |
| Bcr |
A |
G |
10: 75,011,131 (GRCm39) |
D14G |
probably benign |
Het |
| Cadps2 |
C |
T |
6: 23,287,731 (GRCm39) |
V1190I |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,856,086 (GRCm39) |
I709V |
possibly damaging |
Het |
| Cnbd1 |
C |
A |
4: 18,887,748 (GRCm39) |
|
probably null |
Het |
| Cnbd1 |
T |
A |
4: 18,887,749 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
T |
C |
1: 82,650,509 (GRCm39) |
|
probably benign |
Het |
| Coro1a |
T |
A |
7: 126,302,288 (GRCm39) |
K20* |
probably null |
Het |
| Crb2 |
T |
A |
2: 37,673,447 (GRCm39) |
D114E |
probably damaging |
Het |
| Dnah6 |
C |
A |
6: 73,053,623 (GRCm39) |
K2870N |
probably benign |
Het |
| Fpr3 |
A |
G |
17: 18,191,254 (GRCm39) |
H175R |
probably benign |
Het |
| Gk5 |
T |
G |
9: 96,032,533 (GRCm39) |
S248A |
possibly damaging |
Het |
| Grm4 |
T |
A |
17: 27,653,635 (GRCm39) |
I772F |
probably damaging |
Het |
| Gstt4 |
A |
G |
10: 75,653,073 (GRCm39) |
I163T |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,795,201 (GRCm39) |
R278G |
probably damaging |
Het |
| Igfbp5 |
T |
A |
1: 72,903,108 (GRCm39) |
R156* |
probably null |
Het |
| Ighv1-4 |
G |
A |
12: 114,450,753 (GRCm39) |
|
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,500,873 (GRCm39) |
|
probably null |
Het |
| Kcna2 |
A |
C |
3: 107,012,274 (GRCm39) |
Q285P |
probably benign |
Het |
| Klf5 |
A |
T |
14: 99,538,894 (GRCm39) |
R102S |
possibly damaging |
Het |
| Ldb1 |
A |
T |
19: 46,022,929 (GRCm39) |
M252K |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,787,009 (GRCm39) |
I114V |
possibly damaging |
Het |
| Map1b |
A |
T |
13: 99,567,651 (GRCm39) |
I1690N |
unknown |
Het |
| Myo1a |
A |
G |
10: 127,550,354 (GRCm39) |
T565A |
probably benign |
Het |
| Nt5c |
T |
C |
11: 115,382,127 (GRCm39) |
D84G |
possibly damaging |
Het |
| Pde1b |
A |
G |
15: 103,428,417 (GRCm39) |
N51S |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,295,180 (GRCm39) |
L1437Q |
probably damaging |
Het |
| Pld5 |
C |
T |
1: 175,967,610 (GRCm39) |
V82I |
probably damaging |
Het |
| Psmb6 |
T |
A |
11: 70,416,737 (GRCm39) |
N42K |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 74,204,238 (GRCm39) |
S34F |
probably damaging |
Het |
| Slfn9 |
A |
G |
11: 82,872,046 (GRCm39) |
Y897H |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,581,033 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tmem215 |
A |
T |
4: 40,474,534 (GRCm39) |
I204F |
probably benign |
Het |
| Txnl1 |
A |
G |
18: 63,807,114 (GRCm39) |
|
probably null |
Het |
| Ube2q2 |
T |
A |
9: 55,070,296 (GRCm39) |
D79E |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,658 (GRCm39) |
D122G |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,383 (GRCm39) |
I643K |
probably benign |
Het |
| Xkrx |
T |
A |
X: 133,051,388 (GRCm39) |
H421L |
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 |
|
IGL02001:Bclaf1
|
APN |
10 |
20,198,762 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation