Incidental Mutation 'IGL02884:Bcl9'
ID |
362928 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bcl9
|
Ensembl Gene |
ENSMUSG00000038256 |
Gene Name |
B cell CLL/lymphoma 9 |
Synonyms |
2610202E01Rik, A330041G23Rik, 8030475K17Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.931)
|
Stock # |
IGL02884
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
97110978-97205233 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 97117368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 442
(P442L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046521]
[ENSMUST00000166341]
|
AlphaFold |
Q9D219 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046521
AA Change: P442L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046152 Gene: ENSMUSG00000038256 AA Change: P442L
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: ENSMUST00000141861
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166341
AA Change: P442L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131692 Gene: ENSMUSG00000038256 AA Change: P442L
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 |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
A |
G |
11: 58,178,302 (GRCm39) |
I121V |
probably benign |
Het |
Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,736,402 (GRCm39) |
M1797K |
probably benign |
Het |
Akap6 |
T |
A |
12: 52,933,405 (GRCm39) |
I299N |
probably benign |
Het |
Akr1c12 |
A |
T |
13: 4,322,211 (GRCm39) |
M277K |
possibly damaging |
Het |
Ankrd17 |
A |
T |
5: 90,412,616 (GRCm39) |
M1236K |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,635,313 (GRCm39) |
D874G |
probably damaging |
Het |
Atg4b |
T |
C |
1: 93,715,437 (GRCm39) |
|
probably benign |
Het |
Ccdc107 |
A |
T |
4: 43,495,228 (GRCm39) |
K98* |
probably null |
Het |
Cenpl |
A |
G |
1: 160,913,619 (GRCm39) |
Q343R |
probably benign |
Het |
Cep104 |
T |
C |
4: 154,074,319 (GRCm39) |
C524R |
probably damaging |
Het |
Clec3b |
C |
T |
9: 122,985,827 (GRCm39) |
T75I |
probably benign |
Het |
Col13a1 |
A |
T |
10: 61,741,064 (GRCm39) |
|
probably benign |
Het |
Crot |
C |
T |
5: 9,028,197 (GRCm39) |
|
probably null |
Het |
Ddo |
G |
A |
10: 40,513,360 (GRCm39) |
V101I |
probably benign |
Het |
Disp2 |
T |
C |
2: 118,618,032 (GRCm39) |
|
probably benign |
Het |
Dnmt3b |
A |
C |
2: 153,516,297 (GRCm39) |
Y474S |
probably damaging |
Het |
Dpp6 |
T |
A |
5: 27,839,554 (GRCm39) |
N298K |
possibly damaging |
Het |
Fbf1 |
C |
T |
11: 116,037,339 (GRCm39) |
E940K |
probably damaging |
Het |
Fgd6 |
A |
G |
10: 93,881,501 (GRCm39) |
|
probably benign |
Het |
H2-M10.2 |
T |
C |
17: 36,595,568 (GRCm39) |
R241G |
probably damaging |
Het |
Haghl |
A |
T |
17: 26,002,072 (GRCm39) |
F207Y |
possibly damaging |
Het |
Helt |
G |
A |
8: 46,745,620 (GRCm39) |
R88C |
probably damaging |
Het |
Igf2bp2 |
T |
C |
16: 21,981,635 (GRCm39) |
K27E |
probably benign |
Het |
Il1b |
T |
C |
2: 129,207,022 (GRCm39) |
H246R |
probably benign |
Het |
Itprid1 |
T |
C |
6: 55,851,339 (GRCm39) |
|
probably null |
Het |
Kcnu1 |
C |
T |
8: 26,411,556 (GRCm39) |
S167L |
probably damaging |
Het |
Kif16b |
A |
T |
2: 142,544,534 (GRCm39) |
|
probably benign |
Het |
Myh7 |
A |
T |
14: 55,230,276 (GRCm39) |
S19T |
probably benign |
Het |
Ncaph2 |
T |
C |
15: 89,248,447 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,101,951 (GRCm39) |
L879P |
probably damaging |
Het |
Nqo2 |
T |
A |
13: 34,156,344 (GRCm39) |
N19K |
probably damaging |
Het |
Or2r2 |
C |
T |
6: 42,463,540 (GRCm39) |
V196M |
probably damaging |
Het |
Osbpl1a |
C |
A |
18: 12,952,635 (GRCm39) |
G93* |
probably null |
Het |
Pdxdc1 |
A |
G |
16: 13,661,659 (GRCm39) |
F459L |
possibly damaging |
Het |
Phc2 |
A |
T |
4: 128,601,809 (GRCm39) |
H88L |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Ptchd4 |
A |
T |
17: 42,813,340 (GRCm39) |
T414S |
possibly damaging |
Het |
Rab7b |
A |
G |
1: 131,626,280 (GRCm39) |
R103G |
probably damaging |
Het |
Retnla |
A |
G |
16: 48,662,943 (GRCm39) |
Y3C |
probably benign |
Het |
Samd7 |
G |
A |
3: 30,810,322 (GRCm39) |
R113H |
probably damaging |
Het |
Shisa9 |
G |
A |
16: 11,814,907 (GRCm39) |
|
probably benign |
Het |
Soat1 |
A |
T |
1: 156,268,926 (GRCm39) |
I208N |
possibly damaging |
Het |
Stab1 |
C |
A |
14: 30,872,100 (GRCm39) |
|
probably null |
Het |
Tti2 |
C |
T |
8: 31,641,505 (GRCm39) |
L210F |
possibly damaging |
Het |
Ube2v2 |
A |
G |
16: 15,374,349 (GRCm39) |
V77A |
probably benign |
Het |
Ubr5 |
T |
C |
15: 37,998,620 (GRCm39) |
E1617G |
probably damaging |
Het |
Vmn2r16 |
T |
A |
5: 109,508,757 (GRCm39) |
I495K |
possibly damaging |
Het |
Vwce |
G |
T |
19: 10,623,943 (GRCm39) |
R278L |
possibly damaging |
Het |
Wdr26 |
C |
T |
1: 181,010,349 (GRCm39) |
A551T |
probably damaging |
Het |
Wee1 |
A |
G |
7: 109,725,269 (GRCm39) |
I304V |
probably benign |
Het |
Xrcc5 |
C |
T |
1: 72,385,396 (GRCm39) |
H496Y |
possibly damaging |
Het |
Zfp142 |
G |
T |
1: 74,611,142 (GRCm39) |
S884R |
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 |
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 |
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 |
|
Posted On |
2015-12-18 |