Incidental Mutation 'IGL02688:Bcl9l'
ID |
303630 |
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 # |
IGL02688
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
44394122-44423193 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44416560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 211
(T211I)
|
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: T248I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000074516 Gene: ENSMUSG00000063382 AA Change: T248I
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: T248I
PolyPhen 2
Score 0.861 (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: T211I
PolyPhen 2
Score 0.861 (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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
C |
A |
8: 41,279,357 (GRCm39) |
R583S |
probably benign |
Het |
C6 |
A |
G |
15: 4,827,802 (GRCm39) |
I724V |
probably benign |
Het |
Cacna2d4 |
T |
A |
6: 119,247,710 (GRCm39) |
|
probably null |
Het |
Casp4 |
A |
G |
9: 5,322,844 (GRCm39) |
E40G |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Dnah7a |
A |
C |
1: 53,483,631 (GRCm39) |
M3382R |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,235,033 (GRCm39) |
L3526P |
probably damaging |
Het |
Eya4 |
A |
G |
10: 23,035,008 (GRCm39) |
S116P |
probably benign |
Het |
Gabra4 |
T |
A |
5: 71,729,510 (GRCm39) |
E423D |
probably benign |
Het |
Ighv1-67 |
T |
G |
12: 115,567,643 (GRCm39) |
T90P |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,266,471 (GRCm39) |
T828A |
probably benign |
Het |
Nr5a2 |
A |
G |
1: 136,868,145 (GRCm39) |
|
probably null |
Het |
Nup214 |
C |
T |
2: 31,921,287 (GRCm39) |
P1237S |
probably benign |
Het |
Phactr3 |
A |
G |
2: 177,920,792 (GRCm39) |
D215G |
probably damaging |
Het |
Phf2 |
G |
T |
13: 48,959,315 (GRCm39) |
P897Q |
unknown |
Het |
Pla2r1 |
T |
C |
2: 60,285,545 (GRCm39) |
R690G |
probably damaging |
Het |
Ppargc1b |
A |
G |
18: 61,445,314 (GRCm39) |
S181P |
possibly damaging |
Het |
Sele |
A |
T |
1: 163,877,699 (GRCm39) |
I165F |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,141,625 (GRCm39) |
S1626P |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,959,285 (GRCm39) |
I1088T |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,775,927 (GRCm39) |
S69G |
probably damaging |
Het |
Trmt5 |
C |
A |
12: 73,328,232 (GRCm39) |
E324* |
probably null |
Het |
Ttll3 |
T |
C |
6: 113,376,700 (GRCm39) |
I360T |
probably benign |
Het |
Zfp277 |
A |
G |
12: 40,378,687 (GRCm39) |
V390A |
possibly damaging |
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 |
IGL01011:Bcl9l
|
APN |
9 |
44,416,476 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
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 |
2015-04-16 |