Incidental Mutation 'R8299:Bcl9'
| ID |
639124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl9
|
| Ensembl Gene |
ENSMUSG00000038256 |
| Gene Name |
B cell CLL/lymphoma 9 |
| Synonyms |
2610202E01Rik, A330041G23Rik, 8030475K17Rik |
| MMRRC Submission |
067787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R8299 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
97110978-97205233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97112852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1201
(D1201G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046521]
[ENSMUST00000166341]
|
| AlphaFold |
Q9D219 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046521
AA Change: D1201G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046152
Gene: ENSMUSG00000038256
AA Change: D1201G
| 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 |
probably damaging
Transcript: ENSMUST00000166341
AA Change: D1201G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131692
Gene: ENSMUSG00000038256
AA Change: D1201G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
C |
A |
10: 69,811,981 (GRCm39) |
P1216Q |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,599,900 (GRCm39) |
Y164H |
|
Het |
| Atp13a3 |
A |
C |
16: 30,152,619 (GRCm39) |
F1021C |
probably damaging |
Het |
| Bora |
G |
A |
14: 99,305,570 (GRCm39) |
R313Q |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,847,278 (GRCm39) |
Y444H |
probably benign |
Het |
| Cep70 |
A |
T |
9: 99,144,914 (GRCm39) |
M87L |
possibly damaging |
Het |
| Clstn3 |
A |
G |
6: 124,414,332 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
G |
A |
8: 113,500,324 (GRCm39) |
G539S |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,230,669 (GRCm39) |
Y471N |
possibly damaging |
Het |
| Dctn4 |
T |
A |
18: 60,678,872 (GRCm39) |
I197N |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,060,936 (GRCm39) |
L163P |
probably damaging |
Het |
| Elovl2 |
T |
C |
13: 41,345,396 (GRCm39) |
N101D |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,748,874 (GRCm39) |
I404K |
possibly damaging |
Het |
| Gadd45a |
A |
G |
6: 67,014,183 (GRCm39) |
|
probably null |
Het |
| Gfod2 |
T |
C |
8: 106,454,794 (GRCm39) |
T29A |
probably benign |
Het |
| Hltf |
A |
G |
3: 20,136,986 (GRCm39) |
K408E |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,570,546 (GRCm39) |
T362A |
probably benign |
Het |
| Klhl12 |
G |
A |
1: 134,416,678 (GRCm39) |
G467R |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,557,443 (GRCm39) |
|
probably benign |
Het |
| Mcee |
G |
A |
7: 64,061,621 (GRCm39) |
E29K |
unknown |
Het |
| Mki67 |
A |
T |
7: 135,306,349 (GRCm39) |
I571N |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,650,088 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,862,651 (GRCm39) |
E1426A |
possibly damaging |
Het |
| Muc4 |
A |
G |
16: 32,576,271 (GRCm39) |
T1924A |
unknown |
Het |
| Myh14 |
T |
A |
7: 44,276,472 (GRCm39) |
D1170V |
probably damaging |
Het |
| Or10al5 |
G |
T |
17: 38,062,891 (GRCm39) |
E49* |
probably null |
Het |
| Or51a6 |
T |
C |
7: 102,604,739 (GRCm39) |
E30G |
probably damaging |
Het |
| Or55b4 |
T |
C |
7: 102,133,409 (GRCm39) |
H306R |
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,829 (GRCm39) |
I34V |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,408 (GRCm39) |
I66T |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,445,330 (GRCm39) |
V3734A |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,177,396 (GRCm39) |
L576P |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,663,041 (GRCm39) |
N1203Y |
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,677,327 (GRCm39) |
N84S |
probably benign |
Het |
| Prkn |
T |
G |
17: 11,456,408 (GRCm39) |
S77R |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,697,537 (GRCm39) |
S678L |
probably benign |
Het |
| Rims3 |
T |
C |
4: 120,746,569 (GRCm39) |
Y197H |
probably damaging |
Het |
| S1pr4 |
A |
G |
10: 81,335,267 (GRCm39) |
M69T |
probably benign |
Het |
| Sf3a1 |
T |
C |
11: 4,129,420 (GRCm39) |
Y757H |
possibly damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,484,248 (GRCm39) |
N128K |
probably damaging |
Het |
| Slc35a4 |
T |
C |
18: 36,815,980 (GRCm39) |
V270A |
possibly damaging |
Het |
| Speg |
A |
C |
1: 75,364,480 (GRCm39) |
D287A |
possibly damaging |
Het |
| St18 |
T |
C |
1: 6,873,216 (GRCm39) |
V317A |
probably benign |
Het |
| Stk11 |
G |
T |
10: 79,963,867 (GRCm39) |
E350D |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,694,890 (GRCm39) |
L291S |
probably damaging |
Het |
| Susd1 |
C |
T |
4: 59,315,773 (GRCm39) |
V733I |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,105,502 (GRCm39) |
R173G |
probably benign |
Het |
| Tmem115 |
T |
C |
9: 107,411,745 (GRCm39) |
V23A |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,386,123 (GRCm38) |
N110D |
possibly damaging |
Het |
| Wfikkn2 |
C |
T |
11: 94,129,890 (GRCm39) |
V84M |
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 |
|
R7897:Bcl9
|
UTSW |
3 |
97,112,567 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- CCATTCTTGGGGCTTGATCG -3'
(R):5'- AGTACAGTCTCCTCCTCAGCAG -3'
Sequencing Primer
(F):5'- CCTGCATGTGTGAAAACCCAGG -3'
(R):5'- GCAGGTTCCATTCCCTCACAATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation