Incidental Mutation 'R3081:Bcl9'
ID |
265415 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bcl9
|
Ensembl Gene |
ENSMUSG00000038256 |
Gene Name |
B cell CLL/lymphoma 9 |
Synonyms |
2610202E01Rik, A330041G23Rik, 8030475K17Rik |
MMRRC Submission |
040571-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.931)
|
Stock # |
R3081 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
97110978-97205233 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 97112989 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1155
(N1155K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046521]
[ENSMUST00000166341]
|
AlphaFold |
Q9D219 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046521
AA Change: N1155K
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000046152 Gene: ENSMUSG00000038256 AA Change: N1155K
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 |
possibly damaging
Transcript: ENSMUST00000166341
AA Change: N1155K
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131692 Gene: ENSMUSG00000038256 AA Change: N1155K
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 |
|
Meta Mutation Damage Score |
0.0653 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (58/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamdc |
T |
A |
7: 97,214,432 (GRCm39) |
T48S |
probably benign |
Het |
Abcc3 |
T |
A |
11: 94,247,802 (GRCm39) |
L1230F |
probably damaging |
Het |
Abcf3 |
T |
A |
16: 20,378,114 (GRCm39) |
I542N |
probably benign |
Het |
Als2 |
A |
G |
1: 59,226,508 (GRCm39) |
L932P |
probably damaging |
Het |
Arhgap45 |
G |
A |
10: 79,862,281 (GRCm39) |
R583H |
probably damaging |
Het |
Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
Cdkn2aip |
T |
C |
8: 48,164,532 (GRCm39) |
K394E |
probably damaging |
Het |
Cfap70 |
A |
G |
14: 20,470,830 (GRCm39) |
Y472H |
probably damaging |
Het |
Cfap77 |
T |
A |
2: 28,852,662 (GRCm39) |
K203N |
probably damaging |
Het |
Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
Coro6 |
T |
C |
11: 77,359,738 (GRCm39) |
F336S |
probably damaging |
Het |
Derl1 |
C |
A |
15: 57,739,007 (GRCm39) |
|
probably benign |
Het |
Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,181,610 (GRCm39) |
H1651L |
probably benign |
Het |
Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,747,921 (GRCm39) |
H1163R |
probably damaging |
Het |
Efcab9 |
T |
C |
11: 32,473,689 (GRCm39) |
D35G |
probably benign |
Het |
Evpl |
T |
C |
11: 116,111,678 (GRCm39) |
D2004G |
probably damaging |
Het |
Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
Fastkd3 |
T |
C |
13: 68,732,987 (GRCm39) |
V436A |
probably benign |
Het |
Fbxl5 |
A |
G |
5: 43,908,222 (GRCm39) |
Y660H |
probably damaging |
Het |
Glt8d1 |
T |
C |
14: 30,728,617 (GRCm39) |
V15A |
probably benign |
Het |
Gpr25 |
A |
C |
1: 136,187,623 (GRCm39) |
I330S |
possibly damaging |
Het |
Hdac5 |
A |
T |
11: 102,096,436 (GRCm39) |
V257E |
probably damaging |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
Mgat3 |
A |
G |
15: 80,096,055 (GRCm39) |
D294G |
probably benign |
Het |
Mylk2 |
A |
G |
2: 152,761,274 (GRCm39) |
N459S |
probably benign |
Het |
Myo3b |
A |
C |
2: 70,086,927 (GRCm39) |
|
probably benign |
Het |
Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
Nfxl1 |
C |
T |
5: 72,686,378 (GRCm39) |
A608T |
possibly damaging |
Het |
Nmd3 |
A |
G |
3: 69,631,732 (GRCm39) |
|
probably benign |
Het |
Nol8 |
C |
T |
13: 49,831,868 (GRCm39) |
|
probably benign |
Het |
Or1e29 |
A |
T |
11: 73,668,051 (GRCm39) |
M34K |
probably damaging |
Het |
Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
Or8b42 |
T |
A |
9: 38,342,352 (GRCm39) |
M258K |
possibly damaging |
Het |
Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
Pcdhgb2 |
T |
C |
18: 37,824,566 (GRCm39) |
F519S |
probably damaging |
Het |
Phf11c |
A |
G |
14: 59,618,933 (GRCm39) |
V284A |
probably benign |
Het |
Rasl11a |
G |
T |
5: 146,784,113 (GRCm39) |
C186F |
probably benign |
Het |
Rps18-ps3 |
T |
C |
8: 107,989,469 (GRCm39) |
|
noncoding transcript |
Het |
Rusc1 |
A |
G |
3: 88,999,030 (GRCm39) |
S251P |
possibly damaging |
Het |
Rxfp3 |
T |
C |
15: 11,037,303 (GRCm39) |
E23G |
probably benign |
Het |
Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
Slc22a4 |
A |
G |
11: 53,898,615 (GRCm39) |
V159A |
probably benign |
Het |
Spata31d1a |
T |
C |
13: 59,850,907 (GRCm39) |
N407S |
probably benign |
Het |
Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
Stip1 |
C |
T |
19: 7,013,016 (GRCm39) |
A23T |
probably benign |
Het |
Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
Tmed4 |
T |
C |
11: 6,224,151 (GRCm39) |
H115R |
probably benign |
Het |
Tmem255b |
T |
A |
8: 13,501,048 (GRCm39) |
L74H |
probably damaging |
Het |
Trav6n-5 |
A |
T |
14: 53,342,741 (GRCm39) |
H93L |
possibly damaging |
Het |
Tsen54 |
T |
A |
11: 115,710,990 (GRCm39) |
D187E |
probably benign |
Het |
Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
Vmn2r88 |
A |
G |
14: 51,656,089 (GRCm39) |
N775S |
probably damaging |
Het |
Vps13a |
G |
T |
19: 16,642,101 (GRCm39) |
N2175K |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,167,717 (GRCm39) |
|
probably benign |
Het |
Zfp180 |
A |
T |
7: 23,804,928 (GRCm39) |
Q449L |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATCTGGGTCTGTAAACACGG -3'
(R):5'- TCTCACTCCAATCAGATGCC -3'
Sequencing Primer
(F):5'- ACGGAGGGCATGCTGTTC -3'
(R):5'- TCCTAATGCCATGGGACCCAG -3'
|
Posted On |
2015-02-05 |