Incidental Mutation 'R7897:Bcl9'
| ID |
609737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl9
|
| Ensembl Gene |
ENSMUSG00000038256 |
| Gene Name |
B cell CLL/lymphoma 9 |
| Synonyms |
2610202E01Rik, A330041G23Rik, 8030475K17Rik |
| MMRRC Submission |
045949-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R7897 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
97110978-97205233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97112567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1296
(V1296A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046521]
[ENSMUST00000166341]
|
| AlphaFold |
Q9D219 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046521
AA Change: V1296A
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046152
Gene: ENSMUSG00000038256
AA Change: V1296A
| 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 |
possibly damaging
Transcript: ENSMUST00000166341
AA Change: V1296A
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131692
Gene: ENSMUSG00000038256
AA Change: V1296A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
TGTTGATCCATA |
T |
2: 69,154,216 (GRCm39) |
|
probably null |
Het |
| Abcb11 |
GTTGATCCATACA |
G |
2: 69,154,217 (GRCm39) |
|
probably benign |
Het |
| Abcc10 |
T |
C |
17: 46,634,999 (GRCm39) |
T335A |
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,036,657 (GRCm39) |
Y245H |
probably benign |
Het |
| Afm |
G |
A |
5: 90,695,727 (GRCm39) |
M411I |
probably benign |
Het |
| Ahr |
T |
C |
12: 35,554,169 (GRCm39) |
N650S |
possibly damaging |
Het |
| Ap5m1 |
A |
G |
14: 49,311,232 (GRCm39) |
R101G |
probably benign |
Het |
| Armcx5 |
AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA |
AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA |
X: 134,646,453 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,215,284 (GRCm39) |
Q1151R |
|
Het |
| Bsn |
A |
C |
9: 107,989,065 (GRCm39) |
M2229R |
probably damaging |
Het |
| Cfap74 |
T |
C |
4: 155,514,351 (GRCm39) |
V529A |
|
Het |
| Clip1 |
C |
T |
5: 123,760,861 (GRCm39) |
V767M |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,766,382 (GRCm39) |
I1846T |
possibly damaging |
Het |
| Crisp1 |
A |
T |
17: 40,618,656 (GRCm39) |
D68E |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 17,584,935 (GRCm39) |
L19Q |
possibly damaging |
Het |
| Cul7 |
T |
C |
17: 46,968,931 (GRCm39) |
I892T |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,889,061 (GRCm39) |
Y4159F |
probably benign |
Het |
| Elavl3 |
G |
A |
9: 21,929,846 (GRCm39) |
R353C |
probably damaging |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fbxo3 |
A |
G |
2: 103,883,757 (GRCm39) |
D327G |
possibly damaging |
Het |
| Galr1 |
T |
C |
18: 82,424,256 (GRCm39) |
N7S |
probably benign |
Het |
| Glyatl3 |
T |
C |
17: 41,215,802 (GRCm39) |
T235A |
probably damaging |
Het |
| Gm5145 |
A |
C |
17: 20,790,967 (GRCm39) |
Q115P |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,780,069 (GRCm39) |
S1202P |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Jmjd1c |
A |
G |
10: 67,075,644 (GRCm39) |
N1837S |
probably damaging |
Het |
| Jph3 |
A |
T |
8: 122,516,136 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
A |
G |
6: 126,715,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Kcne3 |
C |
G |
7: 99,833,520 (GRCm39) |
R46G |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,722,934 (GRCm39) |
D842G |
probably damaging |
Het |
| Klhl12 |
A |
T |
1: 134,386,219 (GRCm39) |
I4F |
probably benign |
Het |
| Kpna1 |
T |
A |
16: 35,854,235 (GRCm39) |
I525N |
probably benign |
Het |
| Krtap31-1 |
T |
C |
11: 99,798,949 (GRCm39) |
C51R |
possibly damaging |
Het |
| Ms4a12 |
C |
T |
19: 11,207,723 (GRCm39) |
G61D |
possibly damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,400 (GRCm39) |
N115D |
|
Het |
| Nudt16l2 |
A |
C |
9: 105,021,709 (GRCm39) |
Y112* |
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,289,827 (GRCm39) |
Y882C |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,244,202 (GRCm39) |
H79L |
probably benign |
Het |
| Pdia2 |
T |
C |
17: 26,417,207 (GRCm39) |
E79G |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,590,167 (GRCm39) |
F90L |
probably damaging |
Het |
| Pik3cd |
T |
A |
4: 149,741,726 (GRCm39) |
T407S |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,724,827 (GRCm39) |
F2361L |
possibly damaging |
Het |
| Pla2g12b |
A |
T |
10: 59,246,816 (GRCm39) |
R77* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,655,399 (GRCm39) |
Y322C |
probably damaging |
Het |
| Psg23 |
T |
C |
7: 18,341,108 (GRCm39) |
Q382R |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,546,484 (GRCm39) |
V270A |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,695,838 (GRCm39) |
E1431G |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,764,027 (GRCm39) |
I253T |
possibly damaging |
Het |
| Sox9 |
A |
C |
11: 112,675,635 (GRCm39) |
I275L |
probably benign |
Het |
| Tlr4 |
A |
G |
4: 66,758,058 (GRCm39) |
I284V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,171,860 (GRCm39) |
D896G |
unknown |
Het |
| Usp48 |
A |
T |
4: 137,371,739 (GRCm39) |
H955L |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,213,307 (GRCm39) |
I30T |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,366,096 (GRCm39) |
R59* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,783,332 (GRCm39) |
D1169E |
possibly damaging |
Het |
| Zscan2 |
T |
A |
7: 80,525,448 (GRCm39) |
Y390N |
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 |
|
|
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 |
|
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'- CAGCTGGATTGGTCATCAGG -3'
(R):5'- CCAGATCTGCAGGAGGTAATC -3'
Sequencing Primer
(F):5'- TCATCAGGGTGGCTGGGC -3'
(R):5'- CACCGGAATACCTGAGTTTGATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation