Incidental Mutation 'IGL02245:Bcl9'
| ID |
286154 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bcl9
|
| Ensembl Gene |
ENSMUSG00000038256 |
| Gene Name |
B cell CLL/lymphoma 9 |
| Synonyms |
2610202E01Rik, A330041G23Rik, 8030475K17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
IGL02245
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
97110978-97205233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97116009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 895
(L895Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046521]
[ENSMUST00000166341]
|
| AlphaFold |
Q9D219 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046521
AA Change: L895Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046152
Gene: ENSMUSG00000038256
AA Change: L895Q
| 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 |
probably damaging
Transcript: ENSMUST00000166341
AA Change: L895Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131692
Gene: ENSMUSG00000038256
AA Change: L895Q
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,772 (GRCm39) |
I1398V |
probably benign |
Het |
| Abca5 |
G |
A |
11: 110,188,995 (GRCm39) |
Q821* |
probably null |
Het |
| Cpne7 |
A |
G |
8: 123,844,357 (GRCm39) |
D41G |
probably damaging |
Het |
| Daxx |
A |
G |
17: 34,131,351 (GRCm39) |
|
probably benign |
Het |
| Dbx2 |
A |
G |
15: 95,522,628 (GRCm39) |
Y360H |
probably damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,607,321 (GRCm39) |
T47A |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,040,174 (GRCm39) |
V512A |
probably benign |
Het |
| Exoc2 |
T |
C |
13: 31,090,842 (GRCm39) |
D254G |
probably benign |
Het |
| Gtpbp1 |
G |
T |
15: 79,575,127 (GRCm39) |
R7L |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,706,201 (GRCm39) |
I500N |
probably benign |
Het |
| H2ac6 |
A |
T |
13: 23,867,783 (GRCm39) |
Y40N |
probably damaging |
Het |
| H2ac6 |
G |
T |
13: 23,867,784 (GRCm39) |
N39K |
possibly damaging |
Het |
| Hormad2 |
T |
C |
11: 4,358,580 (GRCm39) |
|
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,089,445 (GRCm39) |
Q1130R |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,150,903 (GRCm39) |
D836E |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,427,797 (GRCm39) |
T456S |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,568,036 (GRCm39) |
T1562A |
unknown |
Het |
| Mre11a |
C |
T |
9: 14,726,572 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
A |
C |
11: 67,102,313 (GRCm39) |
E868A |
possibly damaging |
Het |
| Nlrp4e |
T |
G |
7: 23,020,300 (GRCm39) |
S262R |
probably damaging |
Het |
| Nlrp9a |
C |
T |
7: 26,257,318 (GRCm39) |
T223I |
probably benign |
Het |
| Nosip |
A |
G |
7: 44,723,466 (GRCm39) |
D44G |
probably benign |
Het |
| Nr6a1 |
C |
T |
2: 38,630,565 (GRCm39) |
M217I |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,649,601 (GRCm39) |
T1111A |
probably benign |
Het |
| Or6c6c |
T |
A |
10: 129,541,608 (GRCm39) |
I287N |
probably damaging |
Het |
| Pms1 |
A |
G |
1: 53,246,519 (GRCm39) |
L340P |
probably damaging |
Het |
| Prmt7 |
T |
C |
8: 106,963,937 (GRCm39) |
V277A |
probably benign |
Het |
| Pxmp4 |
T |
C |
2: 154,429,870 (GRCm39) |
Y173C |
probably damaging |
Het |
| Rbm11 |
G |
T |
16: 75,389,896 (GRCm39) |
V21L |
possibly damaging |
Het |
| Rims1 |
A |
G |
1: 22,416,712 (GRCm39) |
S1123P |
probably damaging |
Het |
| Rnf220 |
C |
T |
4: 117,156,734 (GRCm39) |
|
probably benign |
Het |
| Rnf41 |
T |
G |
10: 128,273,196 (GRCm39) |
*123G |
probably null |
Het |
| Samhd1 |
C |
T |
2: 156,952,475 (GRCm39) |
D426N |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,501,218 (GRCm39) |
W189R |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,055,150 (GRCm39) |
F265L |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,897,661 (GRCm39) |
D137G |
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,209,103 (GRCm39) |
|
probably benign |
Het |
| Suclg2 |
A |
G |
6: 95,572,722 (GRCm39) |
I81T |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,776,556 (GRCm39) |
R601H |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,254,086 (GRCm39) |
|
probably null |
Het |
| Vit |
A |
G |
17: 78,932,480 (GRCm39) |
D529G |
probably damaging |
Het |
| Wbp1l |
C |
T |
19: 46,643,057 (GRCm39) |
H353Y |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,075,965 (GRCm39) |
V170D |
possibly damaging |
Het |
| Ythdc2 |
T |
A |
18: 44,995,751 (GRCm39) |
I947N |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,875,197 (GRCm39) |
S359P |
probably benign |
Het |
| Zfp936 |
T |
C |
7: 42,836,722 (GRCm39) |
|
probably null |
Het |
| Zscan4d |
T |
A |
7: 10,896,716 (GRCm39) |
Y218F |
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 |
|
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 |
|
R4182:Bcl9
|
UTSW |
3 |
97,120,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation