Incidental Mutation 'R4196:Bcl9'
| ID |
318555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl9
|
| Ensembl Gene |
ENSMUSG00000038256 |
| Gene Name |
B cell CLL/lymphoma 9 |
| Synonyms |
2610202E01Rik, A330041G23Rik, 8030475K17Rik |
| MMRRC Submission |
041027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R4196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
97110978-97205233 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to T
at 97123684 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 benign
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 benign
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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,392,409 (GRCm39) |
K472E |
possibly damaging |
Het |
| Aup1 |
T |
C |
6: 83,032,211 (GRCm39) |
V126A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,958,200 (GRCm39) |
Y1014C |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,154,382 (GRCm39) |
|
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,337,209 (GRCm39) |
N221K |
possibly damaging |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,755,353 (GRCm39) |
N1295K |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,451 (GRCm39) |
L450P |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,383,014 (GRCm39) |
D328N |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gulo |
G |
T |
14: 66,225,702 (GRCm39) |
P375T |
possibly damaging |
Het |
| Hspd1 |
T |
C |
1: 55,126,068 (GRCm39) |
M11V |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,598,671 (GRCm39) |
T243A |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,078,902 (GRCm39) |
R450H |
probably damaging |
Het |
| Lrp3 |
T |
A |
7: 34,902,835 (GRCm39) |
S504C |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,488,556 (GRCm39) |
V564A |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,138 (GRCm39) |
T110A |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,388,582 (GRCm39) |
T174A |
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,122,002 (GRCm38) |
T289S |
possibly damaging |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,213 (GRCm39) |
T222A |
probably damaging |
Het |
| Rhbdd3 |
G |
T |
11: 5,049,460 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
C |
A |
11: 87,479,598 (GRCm39) |
D239E |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,083,604 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
T |
A |
17: 85,368,306 (GRCm39) |
W525R |
probably damaging |
Het |
| Trim75 |
A |
G |
8: 65,435,416 (GRCm39) |
S345P |
probably damaging |
Het |
| Usp5 |
C |
T |
6: 124,801,901 (GRCm39) |
E72K |
possibly damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,237 (GRCm39) |
M226K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,160,457 (GRCm39) |
V697E |
probably damaging |
Het |
| Zbtb9 |
C |
T |
17: 27,192,853 (GRCm39) |
T86I |
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 |
|
R4182:Bcl9
|
UTSW |
3 |
97,120,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- ACTGCACTTGTTATTGCTTCAG -3'
(R):5'- GGCACACACTCAGAGAATGC -3'
Sequencing Primer
(F):5'- ACTTGTTATTGCTTCAGTAAGTTTCC -3'
(R):5'- ACTCAGAGAATGCTGGAACTTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation