Incidental Mutation 'R0884:Bclaf1'
ID |
81065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bclaf1
|
Ensembl Gene |
ENSMUSG00000037608 |
Gene Name |
BCL2-associated transcription factor 1 |
Synonyms |
2700025J07Rik, 2610102K23Rik, 5730534O06Rik, 2810454G14Rik |
MMRRC Submission |
039051-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0884 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
20187897-20218390 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 20197822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 22
(R22*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140428
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043881]
[ENSMUST00000092678]
[ENSMUST00000185800]
[ENSMUST00000186100]
[ENSMUST00000189158]
[ENSMUST00000190156]
[ENSMUST00000191438]
|
AlphaFold |
Q8K019 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043881
AA Change: R22*
|
SMART Domains |
Protein: ENSMUSP00000043583 Gene: ENSMUSG00000037608 AA Change: R22*
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 null
Transcript: ENSMUST00000092678
AA Change: R22*
|
SMART Domains |
Protein: ENSMUSP00000090349 Gene: ENSMUSG00000037608 AA Change: R22*
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 null
Transcript: ENSMUST00000185800
AA Change: R22*
|
SMART Domains |
Protein: ENSMUSP00000140623 Gene: ENSMUSG00000037608 AA Change: R22*
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 null
Transcript: ENSMUST00000186100
AA Change: R22*
|
SMART Domains |
Protein: ENSMUSP00000140101 Gene: ENSMUSG00000037608 AA Change: R22*
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 |
probably null
Transcript: ENSMUST00000190156
AA Change: R22*
|
SMART Domains |
Protein: ENSMUSP00000140428 Gene: ENSMUSG00000037608 AA Change: R22*
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
T |
14: 118,790,700 (GRCm39) |
I844N |
possibly damaging |
Het |
Acbd3 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
1: 180,574,624 (GRCm39) |
|
probably benign |
Het |
Adam6b |
A |
T |
12: 113,454,615 (GRCm39) |
R477S |
probably damaging |
Het |
Aqp7 |
T |
A |
4: 41,034,929 (GRCm39) |
T175S |
possibly damaging |
Het |
Bend7 |
A |
T |
2: 4,749,055 (GRCm39) |
K57N |
probably damaging |
Het |
Bicc1 |
A |
C |
10: 70,794,677 (GRCm39) |
V160G |
probably damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Cep72 |
A |
G |
13: 74,203,000 (GRCm39) |
|
probably null |
Het |
Cobl |
A |
G |
11: 12,325,908 (GRCm39) |
I196T |
possibly damaging |
Het |
Cux1 |
T |
G |
5: 136,336,689 (GRCm39) |
D941A |
probably damaging |
Het |
Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,156,552 (GRCm39) |
L66P |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,075,322 (GRCm39) |
V500D |
possibly damaging |
Het |
Dhx35 |
T |
C |
2: 158,673,631 (GRCm39) |
I354T |
probably damaging |
Het |
Dnase1l2 |
A |
G |
17: 24,660,854 (GRCm39) |
V170A |
possibly damaging |
Het |
Eif4g3 |
C |
A |
4: 137,879,087 (GRCm39) |
N588K |
possibly damaging |
Het |
Epsti1 |
A |
T |
14: 78,168,715 (GRCm39) |
R117S |
probably damaging |
Het |
Fam53a |
T |
C |
5: 33,758,160 (GRCm39) |
E321G |
probably benign |
Het |
Fat4 |
C |
A |
3: 39,037,007 (GRCm39) |
T3553K |
possibly damaging |
Het |
Fer1l4 |
T |
C |
2: 155,861,233 (GRCm39) |
T1978A |
possibly damaging |
Het |
Gabarapl2 |
A |
T |
8: 112,669,137 (GRCm39) |
I32F |
probably damaging |
Het |
Gje1 |
G |
T |
10: 14,592,484 (GRCm39) |
S99R |
possibly damaging |
Het |
Gosr1 |
A |
G |
11: 76,620,972 (GRCm39) |
I239T |
probably benign |
Het |
Gpnmb |
T |
C |
6: 49,024,847 (GRCm39) |
V293A |
possibly damaging |
Het |
Hyi |
T |
A |
4: 118,217,414 (GRCm39) |
I62N |
probably damaging |
Het |
Il4ra |
A |
G |
7: 125,173,835 (GRCm39) |
I267V |
probably damaging |
Het |
Kcnd2 |
A |
T |
6: 21,216,540 (GRCm39) |
Q81H |
probably benign |
Het |
Ksr1 |
A |
T |
11: 78,912,329 (GRCm39) |
H675Q |
possibly damaging |
Het |
Lpcat4 |
A |
G |
2: 112,073,077 (GRCm39) |
N208S |
probably damaging |
Het |
Muc17 |
T |
A |
5: 137,171,146 (GRCm39) |
T162S |
possibly damaging |
Het |
Mup3 |
T |
A |
4: 62,005,411 (GRCm39) |
I20F |
possibly damaging |
Het |
Nebl |
A |
C |
2: 17,415,929 (GRCm39) |
S327A |
probably benign |
Het |
Nfatc4 |
A |
C |
14: 56,064,101 (GRCm39) |
D126A |
probably damaging |
Het |
Nmt2 |
A |
T |
2: 3,315,822 (GRCm39) |
R271* |
probably null |
Het |
Nol7 |
G |
A |
13: 43,554,091 (GRCm39) |
V133I |
probably benign |
Het |
Or1e1c |
A |
T |
11: 73,265,715 (GRCm39) |
I47F |
probably benign |
Het |
Or51ag1 |
C |
T |
7: 103,156,069 (GRCm39) |
W28* |
probably null |
Het |
Pde4d |
A |
T |
13: 110,087,474 (GRCm39) |
I670L |
probably damaging |
Het |
Phlpp1 |
T |
A |
1: 106,317,395 (GRCm39) |
|
probably null |
Het |
Pigz |
A |
G |
16: 31,760,794 (GRCm39) |
|
probably null |
Het |
Pramel21 |
A |
G |
4: 143,341,754 (GRCm39) |
D61G |
probably benign |
Het |
Prrg4 |
A |
T |
2: 104,669,707 (GRCm39) |
Y137N |
probably damaging |
Het |
Rbm28 |
A |
T |
6: 29,155,153 (GRCm39) |
S217T |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,569,415 (GRCm39) |
D4963G |
probably damaging |
Het |
Slc35b2 |
T |
A |
17: 45,877,751 (GRCm39) |
F293I |
probably damaging |
Het |
Slc35f1 |
A |
T |
10: 52,965,443 (GRCm39) |
Y286F |
probably damaging |
Het |
Slc6a18 |
G |
T |
13: 73,815,156 (GRCm39) |
A384D |
probably damaging |
Het |
Syt9 |
A |
G |
7: 107,035,768 (GRCm39) |
I262V |
probably damaging |
Het |
Tln2 |
C |
A |
9: 67,278,015 (GRCm39) |
R333L |
probably damaging |
Het |
Tnrc6b |
ACAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAG |
15: 80,786,756 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,581,410 (GRCm39) |
T14834I |
possibly damaging |
Het |
Uggt1 |
T |
C |
1: 36,214,159 (GRCm39) |
S177G |
probably benign |
Het |
Zfp454 |
A |
G |
11: 50,764,764 (GRCm39) |
S223P |
probably benign |
Het |
Zmat4 |
A |
G |
8: 24,505,143 (GRCm39) |
T128A |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGACATTGCTCCGAAGTTGGTTG -3'
(R):5'- TTGAGAACGGTACACTGATGGCTTG -3'
Sequencing Primer
(F):5'- TTAGTACCTTAAGCAGGTGAAAGTG -3'
(R):5'- CTGATGGCTTGAGTATGTCATACAC -3'
|
Posted On |
2013-11-07 |