Incidental Mutation 'R8372:Bcl9l'
ID |
646496 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bcl9l
|
Ensembl Gene |
ENSMUSG00000063382 |
Gene Name |
B cell CLL/lymphoma 9-like |
Synonyms |
DLNB11 |
MMRRC Submission |
067875-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8372 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
44394122-44423193 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44418528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 826
(M826V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074516
(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 benign
Transcript: ENSMUST00000074989
AA Change: M826V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074516 Gene: ENSMUSG00000063382 AA Change: M826V
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: ENSMUST00000218183
AA Change: M826V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220303
AA Change: M789V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,682,152 (GRCm39) |
D155G |
probably damaging |
Het |
Adgrg7 |
T |
A |
16: 56,616,114 (GRCm39) |
|
probably benign |
Het |
Agap2 |
T |
C |
10: 126,925,185 (GRCm39) |
S833P |
unknown |
Het |
B4galnt2 |
T |
C |
11: 95,760,106 (GRCm39) |
E307G |
possibly damaging |
Het |
C2cd3 |
C |
T |
7: 100,104,487 (GRCm39) |
Q2167* |
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,547,585 (GRCm39) |
E1289G |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,385,203 (GRCm39) |
V1893A |
probably benign |
Het |
Clec4g |
T |
C |
8: 3,757,990 (GRCm39) |
|
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,794,479 (GRCm39) |
E738G |
probably damaging |
Het |
Cyth4 |
A |
G |
15: 78,481,335 (GRCm39) |
|
probably benign |
Het |
Dab2 |
A |
C |
15: 6,446,406 (GRCm39) |
S8R |
possibly damaging |
Het |
Dclk3 |
A |
G |
9: 111,314,081 (GRCm39) |
D719G |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,111,514 (GRCm39) |
V2540A |
possibly damaging |
Het |
Elavl1 |
T |
C |
8: 4,339,664 (GRCm39) |
N306S |
probably damaging |
Het |
Ercc6l2 |
T |
C |
13: 64,001,563 (GRCm39) |
V459A |
probably damaging |
Het |
Fcgr2b |
A |
G |
1: 170,793,330 (GRCm39) |
V233A |
probably benign |
Het |
Gfm2 |
T |
C |
13: 97,301,552 (GRCm39) |
S452P |
possibly damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,850 (GRCm39) |
F80L |
probably benign |
Het |
Ighv13-2 |
A |
T |
12: 114,321,681 (GRCm39) |
C19* |
probably null |
Het |
Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
Klhl9 |
A |
G |
4: 88,639,596 (GRCm39) |
L215P |
probably damaging |
Het |
Krtap20-1 |
G |
C |
16: 88,812,385 (GRCm39) |
G57R |
unknown |
Het |
Or9k2b |
A |
G |
10: 130,016,656 (GRCm39) |
F31S |
probably damaging |
Het |
Parp8 |
T |
A |
13: 116,991,786 (GRCm39) |
Q872H |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,042,696 (GRCm39) |
S1531P |
probably damaging |
Het |
Psg16 |
A |
G |
7: 16,829,240 (GRCm39) |
T275A |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
Rbm15b |
T |
C |
9: 106,762,762 (GRCm39) |
M19V |
|
Het |
Rbm42 |
A |
G |
7: 30,340,631 (GRCm39) |
S447P |
unknown |
Het |
Rsf1 |
T |
C |
7: 97,311,624 (GRCm39) |
S785P |
|
Het |
Scnn1a |
A |
G |
6: 125,320,681 (GRCm39) |
N578S |
probably damaging |
Het |
Slc39a7 |
T |
C |
17: 34,249,639 (GRCm39) |
N169D |
probably damaging |
Het |
Spp1 |
A |
G |
5: 104,588,122 (GRCm39) |
T175A |
probably benign |
Het |
Tigd5 |
A |
G |
15: 75,782,337 (GRCm39) |
H233R |
probably benign |
Het |
Tmprss3 |
C |
T |
17: 31,403,671 (GRCm39) |
V377I |
probably benign |
Het |
Vmn1r75 |
A |
T |
7: 11,614,657 (GRCm39) |
I130F |
probably benign |
Het |
Xpo4 |
A |
G |
14: 57,835,341 (GRCm39) |
|
probably null |
Het |
Xrn1 |
A |
G |
9: 95,906,166 (GRCm39) |
T1186A |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,953,506 (GRCm39) |
Y172H |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCATGGGCATAGAGTTTGG -3'
(R):5'- GATGGTGAGATCTGAAGGCC -3'
Sequencing Primer
(F):5'- TCCTGAGCCCTCCAATGG -3'
(R):5'- TGTTGGAGGCCAAGTGCAC -3'
|
Posted On |
2020-09-02 |