Incidental Mutation 'R4290:Bclaf1'
ID |
323016 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bclaf1
|
Ensembl Gene |
ENSMUSG00000037608 |
Gene Name |
BCL2-associated transcription factor 1 |
Synonyms |
2700025J07Rik, 2610102K23Rik, 5730534O06Rik, 2810454G14Rik |
MMRRC Submission |
041655-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4290 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
20187897-20218390 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20199524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 20
(Q20R)
|
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: Q307R
PolyPhen 2
Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000043583 Gene: ENSMUSG00000037608 AA Change: Q307R
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: Q307R
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000090349 Gene: ENSMUSG00000037608 AA Change: Q307R
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: Q305R
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140623 Gene: ENSMUSG00000037608 AA Change: Q305R
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: Q307R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140101 Gene: ENSMUSG00000037608 AA Change: Q307R
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 damaging
Transcript: ENSMUST00000190156
AA Change: Q305R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140428 Gene: ENSMUSG00000037608 AA Change: Q305R
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: Q20R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140702 Gene: ENSMUSG00000037608 AA Change: Q20R
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: ENSMUST00000215262
|
Meta Mutation Damage Score |
0.0805 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (73/73) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,539,738 (GRCm39) |
N1545S |
probably benign |
Het |
Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
Arid3b |
A |
T |
9: 57,697,713 (GRCm39) |
|
probably benign |
Het |
Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
Atpaf1 |
A |
T |
4: 115,645,556 (GRCm39) |
M142L |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,503,809 (GRCm39) |
S225P |
probably damaging |
Het |
Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
Cfap221 |
A |
G |
1: 119,858,650 (GRCm39) |
S728P |
probably benign |
Het |
Chrna9 |
A |
G |
5: 66,134,481 (GRCm39) |
K444R |
probably benign |
Het |
Cox10 |
A |
T |
11: 63,855,081 (GRCm39) |
V400E |
probably benign |
Het |
Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
Ddr2 |
A |
G |
1: 169,818,178 (GRCm39) |
V443A |
probably benign |
Het |
Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
En1 |
C |
A |
1: 120,531,486 (GRCm39) |
A242E |
unknown |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
Hepacam2 |
T |
A |
6: 3,487,237 (GRCm39) |
Y40F |
probably benign |
Het |
Ift80 |
A |
G |
3: 68,871,023 (GRCm39) |
I191T |
probably damaging |
Het |
Il19 |
T |
A |
1: 130,862,750 (GRCm39) |
T58S |
possibly damaging |
Het |
Itga2 |
G |
A |
13: 115,002,709 (GRCm39) |
R594C |
probably damaging |
Het |
Itga5 |
C |
T |
15: 103,260,684 (GRCm39) |
|
probably null |
Het |
Kcna1 |
T |
C |
6: 126,618,838 (GRCm39) |
D494G |
probably damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,281,261 (GRCm39) |
|
probably null |
Het |
Kmt5b |
T |
C |
19: 3,852,193 (GRCm39) |
Y125H |
possibly damaging |
Het |
Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
Man1c1 |
T |
A |
4: 134,291,096 (GRCm39) |
D600V |
probably damaging |
Het |
Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
Mettl5 |
T |
C |
2: 69,711,176 (GRCm39) |
N114S |
probably benign |
Het |
Mindy2 |
T |
A |
9: 70,538,376 (GRCm39) |
R320W |
probably damaging |
Het |
Nrip1 |
A |
G |
16: 76,088,876 (GRCm39) |
S894P |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,114,633 (GRCm39) |
H1736L |
probably benign |
Het |
Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
Or2aj4 |
A |
T |
16: 19,384,994 (GRCm39) |
M213K |
possibly damaging |
Het |
Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
Or2z9 |
A |
G |
8: 72,853,612 (GRCm39) |
T3A |
probably benign |
Het |
Or4e1 |
T |
C |
14: 52,701,442 (GRCm39) |
N8S |
probably damaging |
Het |
Or6b6 |
A |
C |
7: 106,570,918 (GRCm39) |
L211R |
probably damaging |
Het |
Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
Ppp4c |
A |
G |
7: 126,391,231 (GRCm39) |
|
probably null |
Het |
Rps15a-ps1 |
A |
G |
10: 106,028,496 (GRCm39) |
|
noncoding transcript |
Het |
Rps27a |
A |
G |
11: 29,495,933 (GRCm39) |
Y140H |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
Ttc19 |
A |
G |
11: 62,176,753 (GRCm39) |
|
probably null |
Het |
Ttf2 |
T |
C |
3: 100,870,077 (GRCm39) |
D332G |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vcan |
A |
G |
13: 89,873,605 (GRCm39) |
V83A |
probably damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
Xndc1 |
T |
A |
7: 101,730,694 (GRCm39) |
L288M |
possibly damaging |
Het |
Zfa-ps |
A |
T |
10: 52,419,807 (GRCm39) |
|
noncoding transcript |
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 |
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'- TGCTTAGTACAGTGCACTCTG -3'
(R):5'- GTTGTGAACTGATCGAAAATGGC -3'
Sequencing Primer
(F):5'- GTACAGTGCACTCTGCCAAAAATAC -3'
(R):5'- AACTGATCGAAAATGGCTAATAAAAC -3'
|
Posted On |
2015-06-20 |