Incidental Mutation 'R5238:Bclaf1'
| ID |
400515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bclaf1
|
| Ensembl Gene |
ENSMUSG00000037608 |
| Gene Name |
BCL2-associated transcription factor 1 |
| Synonyms |
2700025J07Rik, 2610102K23Rik, 5730534O06Rik, 2810454G14Rik |
| MMRRC Submission |
042809-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5238 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
20187897-20218390 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 20208130 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 |
probably benign
Transcript: ENSMUST00000043881
|
| SMART Domains |
Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
| 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 benign
Transcript: ENSMUST00000092678
|
| SMART Domains |
Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608
| 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 |
probably benign
Transcript: ENSMUST00000185800
|
| SMART Domains |
Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
| 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 benign
Transcript: ENSMUST00000186100
|
| SMART Domains |
Protein: ENSMUSP00000140101
Gene: ENSMUSG00000037608
| 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: ENSMUST00000188546
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190156
|
| SMART Domains |
Protein: ENSMUSP00000140428
Gene: ENSMUSG00000037608
| 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: ENSMUST00000191143
|
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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 |
|---|
| Abhd12b |
T |
A |
12: 70,210,142 (GRCm39) |
|
probably null |
Het |
| Adamtsl5 |
C |
T |
10: 80,181,192 (GRCm39) |
G63D |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,127,569 (GRCm39) |
M68K |
probably benign |
Het |
| Atad2 |
A |
C |
15: 57,971,733 (GRCm39) |
H381Q |
possibly damaging |
Het |
| Ccdc188 |
A |
G |
16: 18,037,038 (GRCm39) |
E238G |
probably damaging |
Het |
| Cldn19 |
G |
T |
4: 119,112,930 (GRCm39) |
C54F |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,640,379 (GRCm39) |
V512A |
probably damaging |
Het |
| Cyfip1 |
G |
T |
7: 55,541,779 (GRCm39) |
A355S |
probably benign |
Het |
| Dffa |
T |
G |
4: 149,188,760 (GRCm39) |
L18R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,009,891 (GRCm39) |
E3761K |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,769,210 (GRCm39) |
T59A |
possibly damaging |
Het |
| Eed |
T |
C |
7: 89,626,173 (GRCm39) |
S67G |
probably benign |
Het |
| Fam181a |
C |
T |
12: 103,282,392 (GRCm39) |
A99V |
probably benign |
Het |
| Gm12185 |
G |
A |
11: 48,799,044 (GRCm39) |
T483I |
possibly damaging |
Het |
| Htr3b |
A |
T |
9: 48,848,542 (GRCm39) |
C234* |
probably null |
Het |
| Kidins220 |
C |
A |
12: 25,053,009 (GRCm39) |
T433K |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,943,502 (GRCm39) |
Y186H |
probably damaging |
Het |
| Mcm9 |
G |
T |
10: 53,506,093 (GRCm39) |
S60R |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,784,773 (GRCm39) |
C144S |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,955,461 (GRCm39) |
C364R |
probably damaging |
Het |
| Nptx2 |
T |
C |
5: 144,493,041 (GRCm39) |
I376T |
probably damaging |
Het |
| Or2a14 |
T |
C |
6: 43,130,961 (GRCm39) |
S241P |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,604,834 (GRCm39) |
C2191S |
probably damaging |
Het |
| Plxdc2 |
T |
A |
2: 16,655,026 (GRCm39) |
F208L |
probably damaging |
Het |
| Robo3 |
A |
C |
9: 37,328,175 (GRCm39) |
Y1339D |
probably damaging |
Het |
| Rsph9 |
G |
T |
17: 46,446,008 (GRCm39) |
Y42* |
probably null |
Het |
| Slc39a1 |
T |
A |
3: 90,156,702 (GRCm39) |
L86Q |
probably null |
Het |
| Slfn8 |
T |
C |
11: 82,904,214 (GRCm39) |
D392G |
probably damaging |
Het |
| Tiprl |
A |
G |
1: 165,043,337 (GRCm39) |
V263A |
probably benign |
Het |
| Tmub2 |
A |
G |
11: 102,175,820 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,918,702 (GRCm39) |
F681I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uba3 |
A |
T |
6: 97,178,896 (GRCm39) |
C68* |
probably null |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,799 (GRCm39) |
M137L |
probably benign |
Het |
| Vmn1r50 |
C |
T |
6: 90,084,465 (GRCm39) |
A70V |
possibly damaging |
Het |
| Wwc1 |
T |
C |
11: 35,766,723 (GRCm39) |
K511E |
probably benign |
Het |
| Zfp600 |
T |
C |
4: 146,131,741 (GRCm39) |
|
probably null |
Het |
| Zng1 |
G |
T |
19: 24,897,994 (GRCm39) |
T382K |
probably damaging |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTGACCGTCGCCGTAAAG -3'
(R):5'- ACTGTTTCTAGAAATGCACTGC -3'
Sequencing Primer
(F):5'- TCCAGTGGGTCCAGAAAGC -3'
(R):5'- CATTGAAGTCCAACCTCCTGATGTAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation