Incidental Mutation 'R6966:Bcl9l'
ID |
542001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bcl9l
|
Ensembl Gene |
ENSMUSG00000063382 |
Gene Name |
B cell CLL/lymphoma 9-like |
Synonyms |
DLNB11 |
MMRRC Submission |
045076-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6966 (G1)
|
Quality Score |
201.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
44394122-44423193 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 44420685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 1327
(Q1327*)
|
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 null
Transcript: ENSMUST00000074989
AA Change: Q1364*
|
SMART Domains |
Protein: ENSMUSP00000074516 Gene: ENSMUSG00000063382 AA Change: Q1364*
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 null
Transcript: ENSMUST00000218183
AA Change: Q1364*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000220303
AA Change: Q1327*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
G |
A |
8: 43,974,472 (GRCm39) |
R177C |
possibly damaging |
Het |
Adgrb2 |
CG |
C |
4: 129,908,155 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
G |
A |
11: 120,173,985 (GRCm39) |
V1582M |
probably damaging |
Het |
Baiap2 |
A |
T |
11: 119,897,231 (GRCm39) |
R529* |
probably null |
Het |
Brsk2 |
T |
A |
7: 141,538,270 (GRCm39) |
C139S |
possibly damaging |
Het |
Catsper3 |
T |
A |
13: 55,946,672 (GRCm39) |
I123N |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,713,976 (GRCm39) |
N325D |
possibly damaging |
Het |
Chid1 |
T |
A |
7: 141,076,297 (GRCm39) |
Y357F |
possibly damaging |
Het |
Clstn2 |
A |
T |
9: 97,408,459 (GRCm39) |
Y416* |
probably null |
Het |
Cnot1 |
A |
T |
8: 96,451,160 (GRCm39) |
L2189Q |
probably damaging |
Het |
Csnk2b |
T |
A |
17: 35,336,758 (GRCm39) |
I170L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,631,977 (GRCm39) |
Q1326R |
probably damaging |
Het |
Drd1 |
T |
C |
13: 54,207,564 (GRCm39) |
I210V |
probably damaging |
Het |
Eef1d |
G |
T |
15: 75,775,558 (GRCm39) |
Q34K |
probably benign |
Het |
Fam184a |
T |
C |
10: 53,531,095 (GRCm39) |
T760A |
probably benign |
Het |
Fnip1 |
G |
T |
11: 54,373,385 (GRCm39) |
V199F |
probably benign |
Het |
Glyatl3 |
T |
C |
17: 41,215,829 (GRCm39) |
K226E |
probably damaging |
Het |
Gm19410 |
C |
T |
8: 36,285,127 (GRCm39) |
T2093I |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,318,347 (GRCm39) |
E1206D |
probably benign |
Het |
Hs6st1 |
G |
A |
1: 36,143,299 (GRCm39) |
W411* |
probably null |
Het |
Hsf2 |
C |
A |
10: 57,372,080 (GRCm39) |
S60R |
probably damaging |
Het |
Hyal5 |
C |
A |
6: 24,891,291 (GRCm39) |
N368K |
probably damaging |
Het |
Itgb2l |
A |
T |
16: 96,231,843 (GRCm39) |
F308I |
probably benign |
Het |
Kdm7a |
G |
A |
6: 39,129,773 (GRCm39) |
L468F |
probably damaging |
Het |
Lamp3 |
A |
T |
16: 19,518,403 (GRCm39) |
L278* |
probably null |
Het |
Ly6c1 |
A |
T |
15: 74,917,289 (GRCm39) |
|
probably benign |
Het |
Mark3 |
A |
G |
12: 111,606,458 (GRCm39) |
N524D |
probably damaging |
Het |
Met |
T |
G |
6: 17,531,531 (GRCm39) |
L603R |
possibly damaging |
Het |
Mical1 |
A |
T |
10: 41,355,750 (GRCm39) |
Q198L |
probably damaging |
Het |
Nacad |
T |
A |
11: 6,552,634 (GRCm39) |
I186F |
possibly damaging |
Het |
Nt5c3b |
A |
T |
11: 100,320,750 (GRCm39) |
M257K |
probably benign |
Het |
Nuak2 |
T |
C |
1: 132,252,770 (GRCm39) |
M108T |
possibly damaging |
Het |
Nub1 |
T |
A |
5: 24,894,470 (GRCm39) |
Y51N |
probably damaging |
Het |
Nxpe5 |
T |
C |
5: 138,237,679 (GRCm39) |
S68P |
probably damaging |
Het |
Or10ag58 |
C |
T |
2: 87,265,623 (GRCm39) |
T264I |
probably damaging |
Het |
Or5d44 |
A |
G |
2: 88,141,835 (GRCm39) |
S102P |
probably benign |
Het |
Or6c66 |
A |
G |
10: 129,461,633 (GRCm39) |
V99A |
probably benign |
Het |
Pias3 |
A |
G |
3: 96,609,511 (GRCm39) |
D276G |
probably damaging |
Het |
Setd7 |
A |
G |
3: 51,437,605 (GRCm39) |
Y217H |
probably damaging |
Het |
Slc23a1 |
A |
T |
18: 35,758,114 (GRCm39) |
I142N |
probably damaging |
Het |
Slx4ip |
T |
C |
2: 136,910,144 (GRCm39) |
S310P |
probably damaging |
Het |
Tcp11l2 |
G |
A |
10: 84,427,133 (GRCm39) |
R199Q |
possibly damaging |
Het |
Tgm4 |
T |
A |
9: 122,880,207 (GRCm39) |
D226E |
possibly damaging |
Het |
Tspyl4 |
C |
A |
10: 34,173,673 (GRCm39) |
A55E |
probably benign |
Het |
Uap1l1 |
A |
G |
2: 25,254,950 (GRCm39) |
I146T |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,308,441 (GRCm39) |
G2030D |
probably damaging |
Het |
Uts2r |
G |
A |
11: 121,052,213 (GRCm39) |
G359D |
possibly damaging |
Het |
Vwa7 |
T |
C |
17: 35,236,072 (GRCm39) |
S9P |
probably benign |
Het |
Zbtb16 |
A |
G |
9: 48,568,654 (GRCm39) |
C604R |
probably damaging |
Het |
Zfp804b |
A |
G |
5: 6,821,615 (GRCm39) |
S483P |
probably damaging |
Het |
Zfpm1 |
G |
A |
8: 123,058,904 (GRCm39) |
A175T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATCGGTACTGAATGACCCAG -3'
(R):5'- GCATAAAATTCTGCTGGGTCATG -3'
Sequencing Primer
(F):5'- CGGTACTGAATGACCCAGAGCTG -3'
(R):5'- AATTCTGCTGGGTCATGAGGCC -3'
|
Posted On |
2018-11-28 |