Incidental Mutation 'IGL02310:Bcl9l'
| ID |
287773 |
| 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 # |
IGL02310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44394122-44423193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44420602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1299
(Y1299C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151342
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062215]
[ENSMUST00000074989]
[ENSMUST00000179828]
[ENSMUST00000215293]
[ENSMUST00000215661]
[ENSMUST00000218183]
[ENSMUST00000220303]
|
| AlphaFold |
Q67FY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062215
|
| SMART Domains |
Protein: ENSMUSP00000050444
Gene: ENSMUSG00000047880
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
70 |
324 |
8.9e-62 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074989
AA Change: Y1336C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
AA Change: Y1336C
| 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 |
probably benign
Transcript: ENSMUST00000179828
|
| SMART Domains |
Protein: ENSMUSP00000137518
Gene: ENSMUSG00000047880
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
70 |
324 |
1.7e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215661
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218183
AA Change: Y1336C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220303
AA Change: Y1299C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
T |
A |
10: 88,859,740 (GRCm39) |
K382* |
probably null |
Het |
| Apoc2l |
A |
G |
7: 19,405,688 (GRCm39) |
*98Q |
probably null |
Het |
| Best1 |
T |
A |
19: 9,966,516 (GRCm39) |
H357L |
probably benign |
Het |
| Cdc26 |
T |
C |
4: 62,313,266 (GRCm39) |
|
probably benign |
Het |
| Esyt2 |
C |
T |
12: 116,329,541 (GRCm39) |
L700F |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,258,553 (GRCm39) |
Y138C |
probably damaging |
Het |
| Gbp6 |
T |
C |
5: 105,438,841 (GRCm39) |
N16D |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,963,075 (GRCm39) |
D812G |
probably null |
Het |
| Hic2 |
G |
A |
16: 17,075,621 (GRCm39) |
R150Q |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Klhl36 |
T |
A |
8: 120,596,356 (GRCm39) |
|
probably null |
Het |
| Matcap2 |
A |
G |
9: 22,335,724 (GRCm39) |
Y114C |
probably benign |
Het |
| Mug2 |
C |
T |
6: 122,036,082 (GRCm39) |
|
probably benign |
Het |
| Or9s14 |
T |
C |
1: 92,535,787 (GRCm39) |
V76A |
possibly damaging |
Het |
| Pdcl2 |
A |
T |
5: 76,465,728 (GRCm39) |
I116N |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,667 (GRCm39) |
T187A |
possibly damaging |
Het |
| Pkn2 |
A |
G |
3: 142,517,341 (GRCm39) |
I482T |
probably damaging |
Het |
| Prss53 |
T |
G |
7: 127,485,786 (GRCm39) |
D518A |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,787,484 (GRCm39) |
D1093G |
probably benign |
Het |
| Tmcc2 |
A |
T |
1: 132,286,645 (GRCm39) |
I602N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,619,035 (GRCm39) |
V16115I |
possibly damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,752,990 (GRCm39) |
T459K |
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 |
|
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 |
2015-04-16 |
Incidental Mutation