Incidental Mutation 'IGL01011:Bcl9l'
ID |
53757 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bcl9l
|
Ensembl Gene |
ENSMUSG00000063382 |
Gene Name |
B cell CLL/lymphoma 9-like |
Synonyms |
DLNB11 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01011
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
44394122-44423193 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44416476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 183
(D183G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151342
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074989]
[ENSMUST00000218183]
[ENSMUST00000218913]
[ENSMUST00000220303]
|
AlphaFold |
Q67FY2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074989
AA Change: D220G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000074516 Gene: ENSMUSG00000063382 AA Change: D220G
Domain | Start | End | E-Value | Type |
low complexity region
|
215 |
234 |
N/A |
INTRINSIC |
PDB:2XB1|C
|
236 |
269 |
2e-14 |
PDB |
low complexity region
|
278 |
292 |
N/A |
INTRINSIC |
low complexity region
|
297 |
325 |
N/A |
INTRINSIC |
low complexity region
|
337 |
376 |
N/A |
INTRINSIC |
Pfam:BCL9
|
395 |
432 |
2.4e-18 |
PFAM |
low complexity region
|
490 |
507 |
N/A |
INTRINSIC |
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
low complexity region
|
590 |
602 |
N/A |
INTRINSIC |
low complexity region
|
766 |
783 |
N/A |
INTRINSIC |
low complexity region
|
835 |
852 |
N/A |
INTRINSIC |
low complexity region
|
1042 |
1059 |
N/A |
INTRINSIC |
low complexity region
|
1114 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1167 |
1178 |
N/A |
INTRINSIC |
low complexity region
|
1232 |
1245 |
N/A |
INTRINSIC |
low complexity region
|
1262 |
1273 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217898
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218183
AA Change: D220G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218913
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220292
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220303
AA Change: D183G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,165,529 (GRCm39) |
C282S |
probably damaging |
Het |
Abca12 |
T |
C |
1: 71,302,791 (GRCm39) |
I2143V |
probably benign |
Het |
Adgrg6 |
A |
C |
10: 14,285,542 (GRCm39) |
I1148S |
probably damaging |
Het |
Aox4 |
C |
T |
1: 58,279,934 (GRCm39) |
R517* |
probably null |
Het |
Arnt2 |
T |
A |
7: 83,935,037 (GRCm39) |
D289V |
probably benign |
Het |
Atad2b |
A |
G |
12: 5,015,984 (GRCm39) |
N570S |
probably benign |
Het |
Aven |
G |
A |
2: 112,460,130 (GRCm39) |
D208N |
possibly damaging |
Het |
Cd300lf |
A |
G |
11: 115,015,159 (GRCm39) |
S144P |
probably benign |
Het |
Chd8 |
C |
A |
14: 52,468,989 (GRCm39) |
G543V |
possibly damaging |
Het |
Chrm2 |
A |
G |
6: 36,501,373 (GRCm39) |
N410S |
probably benign |
Het |
Clip4 |
A |
G |
17: 72,156,934 (GRCm39) |
I590V |
probably benign |
Het |
Cnbp |
C |
T |
6: 87,822,682 (GRCm39) |
R27H |
probably benign |
Het |
Col4a3 |
T |
C |
1: 82,660,022 (GRCm39) |
V889A |
unknown |
Het |
Cxcl5 |
T |
C |
5: 90,908,382 (GRCm39) |
|
probably benign |
Het |
Dennd6a |
G |
T |
14: 26,324,209 (GRCm39) |
V171F |
probably damaging |
Het |
Dhx38 |
T |
C |
8: 110,289,323 (GRCm39) |
I26V |
probably benign |
Het |
Dscaml1 |
A |
G |
9: 45,594,970 (GRCm39) |
D691G |
possibly damaging |
Het |
Etfdh |
A |
T |
3: 79,519,368 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
A |
18: 58,228,312 (GRCm39) |
|
probably benign |
Het |
Foxp2 |
T |
A |
6: 15,438,018 (GRCm39) |
*715R |
probably null |
Het |
Ftl1 |
A |
T |
7: 45,108,070 (GRCm39) |
D65E |
probably benign |
Het |
Galm |
A |
G |
17: 80,490,709 (GRCm39) |
T289A |
probably benign |
Het |
Gm20721 |
A |
G |
2: 174,187,531 (GRCm39) |
D1049G |
probably damaging |
Het |
Gm28778 |
T |
C |
1: 53,338,277 (GRCm39) |
V47A |
probably benign |
Het |
Gm5414 |
T |
C |
15: 101,536,569 (GRCm39) |
S19G |
probably benign |
Het |
H1f6 |
C |
T |
13: 23,880,032 (GRCm39) |
L62F |
probably damaging |
Het |
Hdac7 |
T |
A |
15: 97,691,816 (GRCm39) |
E835D |
possibly damaging |
Het |
Hspg2 |
C |
T |
4: 137,286,646 (GRCm39) |
T3663I |
probably damaging |
Het |
Kdm4d |
A |
T |
9: 14,375,515 (GRCm39) |
D114E |
probably benign |
Het |
Kif5a |
A |
T |
10: 127,075,065 (GRCm39) |
V516E |
probably benign |
Het |
Lrrtm1 |
A |
G |
6: 77,221,218 (GRCm39) |
|
probably null |
Het |
Miga1 |
G |
T |
3: 151,982,327 (GRCm39) |
T519K |
probably benign |
Het |
Mtfr1l |
G |
A |
4: 134,256,511 (GRCm39) |
P182S |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,367,818 (GRCm39) |
I193V |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,223,871 (GRCm39) |
|
probably benign |
Het |
Or13a26 |
A |
T |
7: 140,284,350 (GRCm39) |
Y62F |
probably damaging |
Het |
Or1e1c |
A |
T |
11: 73,265,833 (GRCm39) |
Q86L |
probably benign |
Het |
Or5h22 |
T |
A |
16: 58,894,793 (GRCm39) |
T217S |
probably benign |
Het |
Pias1 |
T |
C |
9: 62,820,137 (GRCm39) |
T277A |
probably benign |
Het |
Skic3 |
G |
A |
13: 76,270,784 (GRCm39) |
C127Y |
probably damaging |
Het |
Slamf6 |
T |
A |
1: 171,765,666 (GRCm39) |
H263Q |
probably benign |
Het |
Snrnp48 |
A |
G |
13: 38,404,740 (GRCm39) |
D202G |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,148,279 (GRCm39) |
D269E |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,465,303 (GRCm39) |
D344V |
probably benign |
Het |
Tmem62 |
G |
T |
2: 120,809,700 (GRCm39) |
K127N |
possibly damaging |
Het |
Trav15-1-dv6-1 |
C |
T |
14: 53,797,492 (GRCm39) |
T46I |
possibly damaging |
Het |
Trav16d-dv11 |
C |
T |
14: 53,285,041 (GRCm39) |
T39M |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,736,575 (GRCm39) |
D2794G |
probably damaging |
Het |
Trpc7 |
C |
T |
13: 56,952,353 (GRCm39) |
G551D |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,644,634 (GRCm39) |
V11294A |
possibly damaging |
Het |
Ubap2 |
G |
A |
4: 41,195,328 (GRCm39) |
|
probably benign |
Het |
Ubap2l |
G |
A |
3: 89,916,563 (GRCm39) |
Q915* |
probably null |
Het |
Ubfd1 |
A |
G |
7: 121,677,695 (GRCm39) |
E340G |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,474,046 (GRCm39) |
|
probably null |
Het |
Vmn1r6 |
T |
G |
6: 56,979,529 (GRCm39) |
L42V |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,834,237 (GRCm39) |
T1635A |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,520,226 (GRCm39) |
H449Q |
probably benign |
Het |
Zfp750 |
A |
T |
11: 121,403,922 (GRCm39) |
S318T |
probably benign |
Het |
|
Other mutations in Bcl9l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00753:Bcl9l
|
APN |
9 |
44,416,924 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL00969:Bcl9l
|
APN |
9 |
44,419,539 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01396:Bcl9l
|
APN |
9 |
44,418,121 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02015:Bcl9l
|
APN |
9 |
44,420,098 (GRCm39) |
splice site |
probably null |
|
IGL02106:Bcl9l
|
APN |
9 |
44,420,496 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02310:Bcl9l
|
APN |
9 |
44,420,602 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02447:Bcl9l
|
APN |
9 |
44,418,631 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02534:Bcl9l
|
APN |
9 |
44,417,036 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02541:Bcl9l
|
APN |
9 |
44,419,066 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02688:Bcl9l
|
APN |
9 |
44,416,560 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02931:Bcl9l
|
APN |
9 |
44,412,047 (GRCm39) |
missense |
probably damaging |
0.96 |
R0098:Bcl9l
|
UTSW |
9 |
44,416,914 (GRCm39) |
missense |
probably benign |
|
R0142:Bcl9l
|
UTSW |
9 |
44,418,409 (GRCm39) |
missense |
probably benign |
0.09 |
R0193:Bcl9l
|
UTSW |
9 |
44,418,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R0227:Bcl9l
|
UTSW |
9 |
44,416,533 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0481:Bcl9l
|
UTSW |
9 |
44,417,979 (GRCm39) |
missense |
probably benign |
|
R0496:Bcl9l
|
UTSW |
9 |
44,420,815 (GRCm39) |
missense |
probably benign |
0.00 |
R1741:Bcl9l
|
UTSW |
9 |
44,420,986 (GRCm39) |
missense |
probably damaging |
0.99 |
R1971:Bcl9l
|
UTSW |
9 |
44,419,996 (GRCm39) |
splice site |
probably null |
|
R1976:Bcl9l
|
UTSW |
9 |
44,417,449 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4415:Bcl9l
|
UTSW |
9 |
44,413,176 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4751:Bcl9l
|
UTSW |
9 |
44,418,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R4810:Bcl9l
|
UTSW |
9 |
44,419,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R4880:Bcl9l
|
UTSW |
9 |
44,420,007 (GRCm39) |
missense |
probably benign |
0.01 |
R4967:Bcl9l
|
UTSW |
9 |
44,416,365 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5418:Bcl9l
|
UTSW |
9 |
44,416,733 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5572:Bcl9l
|
UTSW |
9 |
44,412,095 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5658:Bcl9l
|
UTSW |
9 |
44,420,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R5812:Bcl9l
|
UTSW |
9 |
44,417,941 (GRCm39) |
missense |
probably benign |
0.01 |
R6515:Bcl9l
|
UTSW |
9 |
44,419,171 (GRCm39) |
splice site |
probably null |
|
R6670:Bcl9l
|
UTSW |
9 |
44,418,369 (GRCm39) |
small insertion |
probably benign |
|
R6682:Bcl9l
|
UTSW |
9 |
44,412,400 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6966:Bcl9l
|
UTSW |
9 |
44,420,685 (GRCm39) |
nonsense |
probably null |
|
R7171:Bcl9l
|
UTSW |
9 |
44,416,448 (GRCm39) |
missense |
probably benign |
0.33 |
R7338:Bcl9l
|
UTSW |
9 |
44,420,005 (GRCm39) |
missense |
probably benign |
|
R7448:Bcl9l
|
UTSW |
9 |
44,420,634 (GRCm39) |
missense |
probably benign |
0.00 |
R7609:Bcl9l
|
UTSW |
9 |
44,417,044 (GRCm39) |
missense |
probably damaging |
0.99 |
R7793:Bcl9l
|
UTSW |
9 |
44,420,994 (GRCm39) |
missense |
probably damaging |
0.97 |
R7793:Bcl9l
|
UTSW |
9 |
44,420,263 (GRCm39) |
missense |
probably benign |
0.00 |
R8372:Bcl9l
|
UTSW |
9 |
44,418,528 (GRCm39) |
missense |
probably benign |
|
R8491:Bcl9l
|
UTSW |
9 |
44,412,065 (GRCm39) |
missense |
probably benign |
0.02 |
R8769:Bcl9l
|
UTSW |
9 |
44,420,263 (GRCm39) |
missense |
probably benign |
0.01 |
R8945:Bcl9l
|
UTSW |
9 |
44,412,238 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9355:Bcl9l
|
UTSW |
9 |
44,419,000 (GRCm39) |
missense |
probably benign |
0.09 |
R9562:Bcl9l
|
UTSW |
9 |
44,412,076 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9564:Bcl9l
|
UTSW |
9 |
44,420,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-28 |