Incidental Mutation 'IGL01396:Bcl9l'
ID |
79452 |
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 # |
IGL01396
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
44394122-44423193 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 44418121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 653
(R653H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151342
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062215]
[ENSMUST00000074989]
[ENSMUST00000179828]
[ENSMUST00000215293]
[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: R690H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000074516 Gene: ENSMUSG00000063382 AA Change: R690H
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 damaging
Transcript: ENSMUST00000218183
AA Change: R690H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220303
AA Change: R653H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,120,649 (GRCm39) |
Y469N |
probably benign |
Het |
Actl11 |
T |
C |
9: 107,805,964 (GRCm39) |
S96P |
possibly damaging |
Het |
Ankrd13b |
T |
A |
11: 77,363,198 (GRCm39) |
|
probably null |
Het |
Apobec4 |
T |
A |
1: 152,632,017 (GRCm39) |
I15K |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,090,401 (GRCm39) |
D1039E |
probably damaging |
Het |
Atp1a1 |
C |
T |
3: 101,498,769 (GRCm39) |
G175R |
probably damaging |
Het |
AU040320 |
T |
A |
4: 126,763,171 (GRCm39) |
|
probably benign |
Het |
Ccdc141 |
T |
A |
2: 76,958,669 (GRCm39) |
I144L |
possibly damaging |
Het |
Cdh20 |
C |
T |
1: 104,875,154 (GRCm39) |
T312I |
possibly damaging |
Het |
Cdh23 |
C |
T |
10: 60,220,848 (GRCm39) |
V1297I |
possibly damaging |
Het |
Cfap57 |
T |
C |
4: 118,467,792 (GRCm39) |
Y315C |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,442,044 (GRCm39) |
|
probably benign |
Het |
Cog5 |
A |
G |
12: 31,944,095 (GRCm39) |
D660G |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,196,945 (GRCm39) |
I332T |
probably damaging |
Het |
Csgalnact2 |
T |
C |
6: 118,103,288 (GRCm39) |
T225A |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,421,490 (GRCm39) |
L310P |
probably damaging |
Het |
Dgki |
T |
C |
6: 36,977,025 (GRCm39) |
N695S |
probably damaging |
Het |
Gas7 |
T |
A |
11: 67,543,740 (GRCm39) |
|
probably null |
Het |
Gm21286 |
T |
C |
4: 60,794,323 (GRCm39) |
|
noncoding transcript |
Het |
Gm4799 |
C |
T |
10: 82,790,518 (GRCm39) |
|
noncoding transcript |
Het |
Hdac4 |
T |
C |
1: 91,887,196 (GRCm39) |
|
probably benign |
Het |
Hif1a |
T |
A |
12: 73,987,307 (GRCm39) |
S467T |
probably benign |
Het |
Ier5 |
A |
G |
1: 154,974,296 (GRCm39) |
V294A |
probably damaging |
Het |
Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,436,191 (GRCm39) |
|
probably benign |
Het |
Lbx1 |
G |
T |
19: 45,222,670 (GRCm39) |
Q118K |
probably benign |
Het |
Lta |
A |
T |
17: 35,423,061 (GRCm39) |
|
probably null |
Het |
Matr3 |
A |
G |
18: 35,721,442 (GRCm39) |
Y471C |
probably damaging |
Het |
Nrg2 |
A |
T |
18: 36,178,905 (GRCm39) |
|
probably benign |
Het |
Or4c103 |
C |
T |
2: 88,513,575 (GRCm39) |
C167Y |
probably damaging |
Het |
Or4k51 |
T |
C |
2: 111,584,848 (GRCm39) |
F85L |
probably benign |
Het |
Or4k51 |
T |
A |
2: 111,584,948 (GRCm39) |
M118K |
probably damaging |
Het |
Or5l13 |
G |
T |
2: 87,780,207 (GRCm39) |
F123L |
probably damaging |
Het |
Patl1 |
A |
G |
19: 11,901,247 (GRCm39) |
K299R |
probably damaging |
Het |
Pdgfrb |
A |
G |
18: 61,205,736 (GRCm39) |
E574G |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,843,386 (GRCm39) |
Q1858* |
probably null |
Het |
Prkca |
T |
C |
11: 107,905,148 (GRCm39) |
K197E |
possibly damaging |
Het |
Psmc6 |
C |
A |
14: 45,581,124 (GRCm39) |
Q307K |
probably benign |
Het |
Rasa1 |
T |
C |
13: 85,406,561 (GRCm39) |
I181V |
probably benign |
Het |
Scel |
A |
G |
14: 103,845,530 (GRCm39) |
|
probably benign |
Het |
Scn5a |
A |
T |
9: 119,363,770 (GRCm39) |
S457T |
probably damaging |
Het |
Sesn3 |
A |
G |
9: 14,232,374 (GRCm39) |
T216A |
probably benign |
Het |
Slc25a21 |
A |
G |
12: 57,205,974 (GRCm39) |
V19A |
probably benign |
Het |
Slc34a1 |
A |
G |
13: 55,550,546 (GRCm39) |
T81A |
probably damaging |
Het |
Slc35a5 |
A |
G |
16: 44,971,866 (GRCm39) |
Y117H |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,114,196 (GRCm39) |
V569A |
probably benign |
Het |
Sqle |
A |
G |
15: 59,195,723 (GRCm39) |
Y333C |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,068,552 (GRCm39) |
E3078G |
possibly damaging |
Het |
Tacc2 |
T |
A |
7: 130,360,919 (GRCm39) |
I2737N |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,346,620 (GRCm39) |
Y1272* |
probably null |
Het |
Tnr |
G |
T |
1: 159,724,594 (GRCm39) |
R1095L |
possibly damaging |
Het |
Vmn1r184 |
T |
C |
7: 25,966,862 (GRCm39) |
S203P |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,477,301 (GRCm39) |
L370P |
probably damaging |
Het |
Xrcc5 |
A |
G |
1: 72,393,404 (GRCm39) |
H559R |
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 |
IGL01011:Bcl9l
|
APN |
9 |
44,416,476 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
2013-11-05 |