Incidental Mutation 'R5770:Bcl9'
ID |
446479 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bcl9
|
Ensembl Gene |
ENSMUSG00000038256 |
Gene Name |
B cell CLL/lymphoma 9 |
Synonyms |
2610202E01Rik, A330041G23Rik, 8030475K17Rik |
MMRRC Submission |
043370-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.931)
|
Stock # |
R5770 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
97110978-97205233 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97122491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 103
(I103V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046521]
[ENSMUST00000166341]
|
AlphaFold |
Q9D219 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046521
AA Change: I103V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000046152 Gene: ENSMUSG00000038256 AA Change: I103V
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
AA Change: I103V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131692 Gene: ENSMUSG00000038256 AA Change: I103V
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 |
0.0577 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
93% (64/69) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030C10Rik |
T |
C |
12: 20,865,460 (GRCm39) |
|
noncoding transcript |
Het |
Abhd8 |
A |
G |
8: 71,909,972 (GRCm39) |
V392A |
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,728,310 (GRCm39) |
E480G |
probably benign |
Het |
Ankfy1 |
C |
G |
11: 72,651,082 (GRCm39) |
H1011D |
probably damaging |
Het |
Aoc3 |
T |
G |
11: 101,222,578 (GRCm39) |
Y271* |
probably null |
Het |
Cgnl1 |
C |
T |
9: 71,552,769 (GRCm39) |
|
probably null |
Het |
Cyp2c23 |
T |
A |
19: 44,010,018 (GRCm39) |
D109V |
probably damaging |
Het |
Cyp2j13 |
A |
T |
4: 95,965,669 (GRCm39) |
W13R |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,037,500 (GRCm39) |
|
probably benign |
Het |
Desi2 |
A |
T |
1: 178,084,061 (GRCm39) |
|
probably benign |
Het |
Dll3 |
T |
C |
7: 27,998,434 (GRCm39) |
E177G |
possibly damaging |
Het |
Ern2 |
C |
T |
7: 121,779,130 (GRCm39) |
G238D |
possibly damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm6133 |
A |
G |
18: 78,393,464 (GRCm39) |
K153E |
probably benign |
Het |
Gpr68 |
A |
T |
12: 100,845,080 (GRCm39) |
Y155N |
probably benign |
Het |
Hcrtr2 |
T |
A |
9: 76,166,948 (GRCm39) |
I130F |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,122,228 (GRCm39) |
K489R |
probably benign |
Het |
Ints13 |
T |
C |
6: 146,456,571 (GRCm39) |
N425S |
probably damaging |
Het |
Itpkc |
T |
C |
7: 26,912,413 (GRCm39) |
D578G |
probably damaging |
Het |
Kcns3 |
A |
G |
12: 11,142,250 (GRCm39) |
S150P |
probably benign |
Het |
Khdrbs3 |
T |
A |
15: 68,921,312 (GRCm39) |
|
probably null |
Het |
Kif11 |
A |
G |
19: 37,379,313 (GRCm39) |
I335V |
probably benign |
Het |
Lrrn4 |
C |
G |
2: 132,714,076 (GRCm39) |
C290S |
probably damaging |
Het |
Macrod2 |
T |
C |
2: 141,074,102 (GRCm39) |
|
probably benign |
Het |
Mgam |
A |
G |
6: 40,646,738 (GRCm39) |
N688S |
probably benign |
Het |
Myh8 |
G |
A |
11: 67,188,026 (GRCm39) |
E933K |
probably damaging |
Het |
Nat8f5 |
T |
C |
6: 85,794,657 (GRCm39) |
Y101C |
probably damaging |
Het |
Nhlrc1 |
A |
G |
13: 47,168,188 (GRCm39) |
V23A |
probably benign |
Het |
Nkx2-3 |
T |
A |
19: 43,602,972 (GRCm39) |
F193I |
probably damaging |
Het |
Nlrp4b |
T |
A |
7: 10,449,414 (GRCm39) |
V172E |
probably benign |
Het |
Nmrk1 |
G |
T |
19: 18,622,438 (GRCm39) |
R172S |
probably benign |
Het |
Nudcd3 |
T |
C |
11: 6,063,286 (GRCm39) |
D201G |
probably damaging |
Het |
Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
Or10g9b |
C |
T |
9: 39,917,634 (GRCm39) |
V204I |
probably benign |
Het |
Or13a18 |
A |
G |
7: 140,190,856 (GRCm39) |
Y259C |
probably damaging |
Het |
Or2t44 |
G |
A |
11: 58,677,420 (GRCm39) |
R120H |
probably benign |
Het |
Or2y14 |
A |
G |
11: 49,405,419 (GRCm39) |
E318G |
unknown |
Het |
Or4c12b |
T |
A |
2: 89,646,893 (GRCm39) |
D68E |
probably damaging |
Het |
Or56a3 |
A |
T |
7: 104,740,102 (GRCm39) |
I248N |
probably damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,514 (GRCm39) |
Y119* |
probably null |
Het |
Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
Pcdh9 |
G |
A |
14: 94,124,379 (GRCm39) |
T597I |
probably damaging |
Het |
Pcdhb19 |
A |
G |
18: 37,631,090 (GRCm39) |
N295S |
possibly damaging |
Het |
Pcnx3 |
T |
C |
19: 5,731,607 (GRCm39) |
|
probably benign |
Het |
Pdzph1 |
A |
T |
17: 59,186,146 (GRCm39) |
I1215N |
probably damaging |
Het |
Phf21a |
C |
T |
2: 92,182,199 (GRCm39) |
T405I |
possibly damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,781,757 (GRCm39) |
G763W |
probably damaging |
Het |
Prox2 |
A |
G |
12: 85,134,154 (GRCm39) |
F591L |
probably benign |
Het |
Robo3 |
T |
A |
9: 37,330,497 (GRCm39) |
H1033L |
possibly damaging |
Het |
Sdha |
A |
T |
13: 74,471,239 (GRCm39) |
C222* |
probably null |
Het |
Sec16a |
T |
C |
2: 26,304,402 (GRCm39) |
D2303G |
probably damaging |
Het |
Shoc1 |
T |
C |
4: 59,092,466 (GRCm39) |
I238M |
probably benign |
Het |
Slc16a5 |
A |
G |
11: 115,363,604 (GRCm39) |
K422E |
possibly damaging |
Het |
Slc22a30 |
A |
T |
19: 8,363,891 (GRCm39) |
M232K |
probably damaging |
Het |
Slc35b3 |
A |
T |
13: 39,121,734 (GRCm39) |
F300I |
probably damaging |
Het |
Spata2l |
A |
G |
8: 123,962,459 (GRCm39) |
V34A |
probably damaging |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Tecta |
T |
A |
9: 42,256,885 (GRCm39) |
Q1597L |
possibly damaging |
Het |
Tgfb1i1 |
A |
T |
7: 127,847,719 (GRCm39) |
|
probably benign |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tpm3-rs7 |
A |
G |
14: 113,552,807 (GRCm39) |
T234A |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,907,520 (GRCm39) |
Y684C |
probably damaging |
Het |
Zc3h4 |
T |
A |
7: 16,163,536 (GRCm39) |
M585K |
unknown |
Het |
Zfp292 |
A |
G |
4: 34,806,747 (GRCm39) |
I2099T |
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 |
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 |
|
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'- TAAGCTGCAGACTTCCAGGC -3'
(R):5'- TGATGTCCCCATCTGGAAAC -3'
Sequencing Primer
(F):5'- TGCAGACTTCCAGGCTCTGC -3'
(R):5'- CTGGATTCCAAATTCTCCAATCAGGG -3'
|
Posted On |
2016-11-21 |