Incidental Mutation 'R4182:Bcl9'
ID |
319765 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bcl9
|
Ensembl Gene |
ENSMUSG00000038256 |
Gene Name |
B cell CLL/lymphoma 9 |
Synonyms |
2610202E01Rik, A330041G23Rik, 8030475K17Rik |
MMRRC Submission |
041018-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.931)
|
Stock # |
R4182 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
97110978-97205233 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 97120999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046521]
[ENSMUST00000166341]
|
AlphaFold |
Q9D219 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046521
|
SMART Domains |
Protein: ENSMUSP00000046152 Gene: ENSMUSG00000038256
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
low complexity region
|
86 |
98 |
N/A |
INTRINSIC |
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
PDB:2VP7|B
|
174 |
205 |
4e-13 |
PDB |
low complexity region
|
229 |
247 |
N/A |
INTRINSIC |
low complexity region
|
255 |
273 |
N/A |
INTRINSIC |
low complexity region
|
321 |
342 |
N/A |
INTRINSIC |
Pfam:BCL9
|
350 |
389 |
3.1e-24 |
PFAM |
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
low complexity region
|
817 |
835 |
N/A |
INTRINSIC |
low complexity region
|
891 |
902 |
N/A |
INTRINSIC |
low complexity region
|
985 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1044 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1153 |
N/A |
INTRINSIC |
low complexity region
|
1156 |
1177 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1281 |
1299 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1391 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132266
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134695
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135247
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141861
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166341
|
SMART Domains |
Protein: ENSMUSP00000131692 Gene: ENSMUSG00000038256
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
low complexity region
|
86 |
98 |
N/A |
INTRINSIC |
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
PDB:2VP7|B
|
174 |
205 |
4e-13 |
PDB |
low complexity region
|
229 |
247 |
N/A |
INTRINSIC |
low complexity region
|
255 |
273 |
N/A |
INTRINSIC |
low complexity region
|
321 |
342 |
N/A |
INTRINSIC |
Pfam:BCL9
|
350 |
388 |
5.2e-22 |
PFAM |
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
low complexity region
|
817 |
835 |
N/A |
INTRINSIC |
low complexity region
|
891 |
902 |
N/A |
INTRINSIC |
low complexity region
|
985 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1044 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1153 |
N/A |
INTRINSIC |
low complexity region
|
1156 |
1177 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1281 |
1299 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1391 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196586
|
Meta Mutation Damage Score |
0.9500 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
98% (43/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice carrying homozygous floxed Bcl9 and Bcl9l alleles, inactivated in muscle cells, exhibit impaired muscle regeneration due to increased apoptosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,928,801 (GRCm39) |
|
probably benign |
Het |
Cfap20 |
A |
T |
8: 96,151,284 (GRCm39) |
I19N |
probably damaging |
Het |
Clnk |
T |
A |
5: 38,905,193 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,894,675 (GRCm39) |
|
probably null |
Het |
Cux2 |
C |
T |
5: 122,006,555 (GRCm39) |
G905D |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
Ddx59 |
T |
A |
1: 136,367,599 (GRCm39) |
S569T |
probably benign |
Het |
Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
Dnajc21 |
T |
C |
15: 10,460,019 (GRCm39) |
|
probably null |
Het |
Fam217a |
T |
C |
13: 35,094,239 (GRCm39) |
T416A |
possibly damaging |
Het |
Gbp9 |
T |
A |
5: 105,231,461 (GRCm39) |
Q375L |
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
H2-T24 |
A |
T |
17: 36,326,376 (GRCm39) |
N174K |
possibly damaging |
Het |
Heatr3 |
T |
C |
8: 88,897,630 (GRCm39) |
|
probably benign |
Het |
Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
Naaa |
C |
T |
5: 92,420,413 (GRCm39) |
|
probably null |
Het |
Nbea |
A |
G |
3: 55,915,848 (GRCm39) |
C875R |
probably damaging |
Het |
Nme1 |
G |
A |
11: 93,851,630 (GRCm39) |
T87I |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,915,663 (GRCm39) |
S124P |
probably benign |
Het |
Nrap |
C |
T |
19: 56,338,759 (GRCm39) |
V907M |
probably damaging |
Het |
Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
Or4f59 |
G |
T |
2: 111,872,873 (GRCm39) |
P168Q |
probably damaging |
Het |
Pcdhga8 |
A |
G |
18: 37,860,336 (GRCm39) |
N464S |
probably damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,529,078 (GRCm39) |
I75V |
probably benign |
Het |
Ralgapa2 |
G |
A |
2: 146,277,914 (GRCm39) |
P416S |
probably damaging |
Het |
Saal1 |
A |
G |
7: 46,360,076 (GRCm39) |
|
probably benign |
Het |
Susd5 |
A |
G |
9: 113,925,053 (GRCm39) |
E312G |
probably benign |
Het |
Tgfb2 |
T |
A |
1: 186,361,222 (GRCm39) |
D315V |
possibly damaging |
Het |
Tll1 |
C |
T |
8: 64,494,545 (GRCm39) |
D737N |
probably damaging |
Het |
Tmem115 |
A |
G |
9: 107,412,482 (GRCm39) |
T269A |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,155,538 (GRCm39) |
D490G |
probably damaging |
Het |
Vmn1r72 |
C |
T |
7: 11,403,995 (GRCm39) |
R151K |
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,606,395 (GRCm39) |
F317Y |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zfp560 |
A |
G |
9: 20,258,744 (GRCm39) |
I706T |
probably benign |
Het |
Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
|
Other mutations in Bcl9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00553:Bcl9
|
APN |
3 |
97,114,518 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00817:Bcl9
|
APN |
3 |
97,112,460 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01609:Bcl9
|
APN |
3 |
97,116,291 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02245:Bcl9
|
APN |
3 |
97,116,009 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02385:Bcl9
|
APN |
3 |
97,116,594 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02534:Bcl9
|
APN |
3 |
97,122,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02663:Bcl9
|
APN |
3 |
97,112,648 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02705:Bcl9
|
APN |
3 |
97,112,181 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02884:Bcl9
|
APN |
3 |
97,117,368 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03345:Bcl9
|
APN |
3 |
97,116,508 (GRCm39) |
missense |
probably benign |
|
R0312:Bcl9
|
UTSW |
3 |
97,116,727 (GRCm39) |
missense |
probably benign |
0.27 |
R0602:Bcl9
|
UTSW |
3 |
97,113,102 (GRCm39) |
missense |
probably benign |
0.00 |
R0627:Bcl9
|
UTSW |
3 |
97,112,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R0644:Bcl9
|
UTSW |
3 |
97,117,813 (GRCm39) |
missense |
probably benign |
|
R1342:Bcl9
|
UTSW |
3 |
97,113,042 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1836:Bcl9
|
UTSW |
3 |
97,113,186 (GRCm39) |
missense |
probably damaging |
0.97 |
R1886:Bcl9
|
UTSW |
3 |
97,122,713 (GRCm39) |
missense |
probably benign |
0.04 |
R1931:Bcl9
|
UTSW |
3 |
97,112,460 (GRCm39) |
missense |
probably damaging |
0.97 |
R1972:Bcl9
|
UTSW |
3 |
97,114,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R1984:Bcl9
|
UTSW |
3 |
97,121,050 (GRCm39) |
missense |
probably damaging |
0.98 |
R2119:Bcl9
|
UTSW |
3 |
97,116,231 (GRCm39) |
missense |
probably benign |
0.04 |
R2924:Bcl9
|
UTSW |
3 |
97,117,069 (GRCm39) |
missense |
probably benign |
0.00 |
R3081:Bcl9
|
UTSW |
3 |
97,112,989 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3851:Bcl9
|
UTSW |
3 |
97,116,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R4196:Bcl9
|
UTSW |
3 |
97,123,684 (GRCm39) |
utr 5 prime |
probably benign |
|
R4209:Bcl9
|
UTSW |
3 |
97,117,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R5082:Bcl9
|
UTSW |
3 |
97,117,218 (GRCm39) |
missense |
probably damaging |
0.97 |
R5440:Bcl9
|
UTSW |
3 |
97,117,881 (GRCm39) |
missense |
probably benign |
|
R5770:Bcl9
|
UTSW |
3 |
97,122,491 (GRCm39) |
missense |
probably benign |
|
R5863:Bcl9
|
UTSW |
3 |
97,117,666 (GRCm39) |
missense |
probably benign |
|
R5891:Bcl9
|
UTSW |
3 |
97,116,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R6086:Bcl9
|
UTSW |
3 |
97,112,840 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6305:Bcl9
|
UTSW |
3 |
97,113,254 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6626:Bcl9
|
UTSW |
3 |
97,122,712 (GRCm39) |
missense |
probably benign |
0.00 |
R7198:Bcl9
|
UTSW |
3 |
97,116,183 (GRCm39) |
missense |
probably damaging |
0.99 |
R7198:Bcl9
|
UTSW |
3 |
97,112,511 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7548:Bcl9
|
UTSW |
3 |
97,113,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R7897:Bcl9
|
UTSW |
3 |
97,112,567 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8299:Bcl9
|
UTSW |
3 |
97,112,852 (GRCm39) |
missense |
probably damaging |
0.97 |
R8332:Bcl9
|
UTSW |
3 |
97,117,086 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8519:Bcl9
|
UTSW |
3 |
97,116,334 (GRCm39) |
missense |
probably benign |
|
R9057:Bcl9
|
UTSW |
3 |
97,112,306 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9079:Bcl9
|
UTSW |
3 |
97,112,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R9273:Bcl9
|
UTSW |
3 |
97,115,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R9367:Bcl9
|
UTSW |
3 |
97,117,861 (GRCm39) |
missense |
probably benign |
0.22 |
R9399:Bcl9
|
UTSW |
3 |
97,113,289 (GRCm39) |
missense |
probably benign |
0.00 |
R9597:Bcl9
|
UTSW |
3 |
97,117,323 (GRCm39) |
missense |
probably benign |
0.01 |
R9643:Bcl9
|
UTSW |
3 |
97,112,960 (GRCm39) |
missense |
possibly damaging |
0.77 |
X0011:Bcl9
|
UTSW |
3 |
97,113,290 (GRCm39) |
missense |
probably benign |
0.05 |
Z1088:Bcl9
|
UTSW |
3 |
97,117,957 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Predicted Primers |
PCR Primer
(F):5'- GTAGCTACTTTTGGTGAATTCCAGAG -3'
(R):5'- ACATCAAGTCCCAGGAGTCC -3'
Sequencing Primer
(F):5'- GGTGAATTCCAGAGATTTTTCTTCC -3'
(R):5'- AGGAGTCCCAGCACACG -3'
|
Posted On |
2015-06-10 |