Incidental Mutation 'R9640:Bclaf1'
| ID |
725931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bclaf1
|
| Ensembl Gene |
ENSMUSG00000037608 |
| Gene Name |
BCL2-associated transcription factor 1 |
| Synonyms |
2700025J07Rik, 2610102K23Rik, 5730534O06Rik, 2810454G14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
20187897-20218390 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 20201553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043881]
[ENSMUST00000092678]
[ENSMUST00000185800]
[ENSMUST00000186100]
[ENSMUST00000189158]
[ENSMUST00000190156]
[ENSMUST00000191438]
|
| AlphaFold |
Q8K019 |
| Predicted Effect |
probably null
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 |
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
C |
16: 14,436,589 (GRCm39) |
V214A |
|
Het |
| A830018L16Rik |
A |
G |
1: 12,021,200 (GRCm39) |
K403R |
probably damaging |
Het |
| Aadacl4fm4 |
T |
A |
4: 144,412,809 (GRCm39) |
R44W |
possibly damaging |
Het |
| Abhd17c |
A |
T |
7: 83,800,814 (GRCm39) |
L80Q |
probably damaging |
Het |
| Adam30 |
T |
A |
3: 98,069,620 (GRCm39) |
D484E |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,010 (GRCm39) |
V2299E |
possibly damaging |
Het |
| Atp6v1c1 |
C |
T |
15: 38,689,381 (GRCm39) |
R281W |
probably damaging |
Het |
| Ccdc50 |
T |
C |
16: 27,225,461 (GRCm39) |
V58A |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,126,352 (GRCm39) |
S187P |
probably benign |
Het |
| Clip4 |
C |
T |
17: 72,163,264 (GRCm39) |
T612M |
possibly damaging |
Het |
| Corin |
C |
T |
5: 72,592,597 (GRCm39) |
V267I |
probably benign |
Het |
| Cyp2c37 |
T |
A |
19: 40,000,180 (GRCm39) |
I434K |
probably benign |
Het |
| Ddx43 |
T |
G |
9: 78,303,389 (GRCm39) |
D76E |
probably benign |
Het |
| Dusp5 |
A |
G |
19: 53,526,051 (GRCm39) |
E231G |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,166,394 (GRCm39) |
V242I |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,831,896 (GRCm39) |
R1973S |
probably benign |
Het |
| Gas2l3 |
A |
T |
10: 89,266,774 (GRCm39) |
D55E |
probably damaging |
Het |
| Grwd1 |
T |
C |
7: 45,477,303 (GRCm39) |
I195V |
probably benign |
Het |
| H2-M1 |
G |
T |
17: 36,983,031 (GRCm39) |
T20K |
probably benign |
Het |
| H2-Q2 |
T |
G |
17: 35,562,206 (GRCm39) |
L151R |
probably damaging |
Het |
| Hbegf |
T |
C |
18: 36,640,643 (GRCm39) |
Y138C |
probably damaging |
Het |
| Hectd1 |
C |
A |
12: 51,795,197 (GRCm39) |
E2411* |
probably null |
Het |
| Igkv11-125 |
T |
A |
6: 67,890,783 (GRCm39) |
S34T |
possibly damaging |
Het |
| Jam2 |
A |
T |
16: 84,609,960 (GRCm39) |
T191S |
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,185,089 (GRCm39) |
I457T |
probably damaging |
Het |
| Khk |
A |
G |
5: 31,079,303 (GRCm39) |
D15G |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,526,875 (GRCm39) |
Y2244* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,078,929 (GRCm39) |
N1841S |
|
Het |
| Lrp4 |
A |
G |
2: 91,316,296 (GRCm39) |
T805A |
probably benign |
Het |
| Lrp6 |
C |
T |
6: 134,441,414 (GRCm39) |
R1184Q |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,900,699 (GRCm39) |
L442* |
probably null |
Het |
| Mapk8ip3 |
T |
C |
17: 25,155,647 (GRCm39) |
N61S |
possibly damaging |
Het |
| Matcap2 |
A |
T |
9: 22,351,228 (GRCm39) |
I457L |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,754,539 (GRCm39) |
V4685E |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,745,325 (GRCm39) |
E134G |
possibly damaging |
Het |
| Mtss2 |
T |
C |
8: 111,464,575 (GRCm39) |
V403A |
probably benign |
Het |
| Ndst4 |
C |
A |
3: 125,232,196 (GRCm39) |
T255K |
probably damaging |
Het |
| Or1i2 |
G |
C |
10: 78,448,311 (GRCm39) |
L55V |
probably damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,761 (GRCm39) |
M58L |
probably damaging |
Het |
| Or5ae2 |
G |
A |
7: 84,506,114 (GRCm39) |
C181Y |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,396 (GRCm39) |
L51P |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,515,355 (GRCm39) |
D126E |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,397,142 (GRCm39) |
T675A |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,121,116 (GRCm39) |
D185G |
probably damaging |
Het |
| Rnase2a |
G |
A |
14: 51,493,117 (GRCm39) |
R83C |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,583,994 (GRCm39) |
T784A |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,937,189 (GRCm39) |
T272S |
|
Het |
| Sorcs2 |
G |
T |
5: 36,222,765 (GRCm39) |
S330* |
probably null |
Het |
| Spdef |
G |
T |
17: 27,936,183 (GRCm39) |
H253Q |
|
Het |
| Tas2r144 |
A |
G |
6: 42,192,428 (GRCm39) |
E56G |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,074,825 (GRCm39) |
C479R |
probably damaging |
Het |
| Ttc36 |
A |
T |
9: 44,714,034 (GRCm39) |
L28Q |
probably benign |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,098 (GRCm39) |
S109P |
possibly damaging |
Het |
| Vamp5 |
G |
A |
6: 72,347,276 (GRCm39) |
|
probably benign |
Het |
| Wwox |
A |
G |
8: 115,166,540 (GRCm39) |
D10G |
possibly damaging |
Het |
| Zfp40 |
T |
C |
17: 23,394,493 (GRCm39) |
Y698C |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,106,458 (GRCm39) |
D183G |
probably benign |
Het |
| Zfp932 |
T |
C |
5: 110,157,064 (GRCm39) |
V254A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,209,899 (GRCm39) |
L57H |
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 |
|
|
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 |
|
R9747:Bclaf1
|
UTSW |
10 |
20,207,892 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGGAGCAGGTAAAGTCTG -3'
(R):5'- ATGGATCGGAATTCTTGCTCTTTC -3'
Sequencing Primer
(F):5'- GCAGGTAAAGTCTGAAAAGCTC -3'
(R):5'- CTCTTTCTTGACAGAATGGACAAGCG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation