Incidental Mutation 'IGL00341:Bclaf1'
| ID |
6123 |
| 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 # |
IGL00341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
20187897-20218390 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20201745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 295
(E295D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140702
(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: E582D
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
AA Change: E582D
| 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 |
probably damaging
Transcript: ENSMUST00000092678
AA Change: E582D
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608
AA Change: E582D
| 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: E580D
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
AA Change: E580D
| 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 |
probably damaging
Transcript: ENSMUST00000186100
AA Change: E582D
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140101
Gene: ENSMUSG00000037608
AA Change: E582D
| 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: E580D
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140428
Gene: ENSMUSG00000037608
AA Change: E580D
| 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 |
probably damaging
Transcript: ENSMUST00000191438
AA Change: E295D
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140702
Gene: ENSMUSG00000037608
AA Change: E295D
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
T |
A |
6: 43,257,203 (GRCm39) |
Y519* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,163,130 (GRCm39) |
Y476C |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,387,539 (GRCm39) |
D644G |
probably damaging |
Het |
| Ccdc122 |
G |
A |
14: 77,329,179 (GRCm39) |
M77I |
probably benign |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,480 (GRCm39) |
R30G |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,944,264 (GRCm39) |
D214G |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,708,027 (GRCm39) |
T778S |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,810,138 (GRCm39) |
|
probably benign |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
G |
T |
10: 115,290,369 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,057,953 (GRCm39) |
K759R |
possibly damaging |
Het |
| Mtfr2 |
A |
G |
10: 20,233,394 (GRCm39) |
D321G |
probably damaging |
Het |
| Nip7 |
A |
G |
8: 107,783,802 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,268 (GRCm39) |
I47V |
probably benign |
Het |
| Pak1ip1 |
A |
T |
13: 41,161,494 (GRCm39) |
T84S |
possibly damaging |
Het |
| Ptpn20 |
C |
A |
14: 33,344,576 (GRCm39) |
R167S |
probably benign |
Het |
| Rab4b |
C |
T |
7: 26,872,151 (GRCm39) |
G190S |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,443,495 (GRCm39) |
D179V |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,903 (GRCm39) |
R571Q |
probably damaging |
Het |
| Smad1 |
A |
G |
8: 80,083,098 (GRCm39) |
V134A |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,861,263 (GRCm39) |
V344A |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,193,846 (GRCm39) |
L196P |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,694 (GRCm39) |
V248E |
probably damaging |
Het |
| Ttc7 |
C |
T |
17: 87,670,992 (GRCm39) |
T709I |
possibly damaging |
Het |
| Usp31 |
A |
G |
7: 121,305,893 (GRCm39) |
L195P |
probably damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,837,917 (GRCm39) |
V793I |
probably benign |
Het |
| Xpo5 |
T |
G |
17: 46,535,973 (GRCm39) |
L535R |
probably damaging |
Het |
| Ythdc2 |
A |
T |
18: 44,983,464 (GRCm39) |
M544L |
probably benign |
Het |
|
| Other mutations in Bclaf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01087:Bclaf1
|
APN |
10 |
20,201,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02001:Bclaf1
|
APN |
10 |
20,198,762 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation