Incidental Mutation 'R1741:Bcl9l'
| ID |
200362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl9l
|
| Ensembl Gene |
ENSMUSG00000063382 |
| Gene Name |
B cell CLL/lymphoma 9-like |
| Synonyms |
DLNB11 |
| MMRRC Submission |
039773-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1741 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44394122-44423193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44420986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1427
(M1427K)
|
| 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: M1464K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
AA Change: M1464K
| 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: M1464K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220303
AA Change: M1427K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
A |
G |
18: 52,793,578 (GRCm39) |
N37S |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,785,899 (GRCm39) |
K230R |
probably damaging |
Het |
| Actl7a |
A |
G |
4: 56,744,252 (GRCm39) |
N260D |
probably benign |
Het |
| Adam24 |
T |
C |
8: 41,132,642 (GRCm39) |
Y37H |
probably benign |
Het |
| Ahcy |
G |
A |
2: 154,906,154 (GRCm39) |
A229V |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,117,347 (GRCm39) |
V563A |
possibly damaging |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Btg4 |
A |
T |
9: 51,027,910 (GRCm39) |
I27L |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,539,076 (GRCm39) |
Y366C |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,246,480 (GRCm39) |
Y1085H |
probably damaging |
Het |
| Cnot10 |
T |
C |
9: 114,426,892 (GRCm39) |
D616G |
possibly damaging |
Het |
| Crlf1 |
C |
A |
8: 70,953,556 (GRCm39) |
D243E |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,372,502 (GRCm39) |
V371A |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,470,091 (GRCm39) |
S534P |
probably damaging |
Het |
| Eln |
A |
G |
5: 134,758,038 (GRCm39) |
V185A |
unknown |
Het |
| Epor |
C |
T |
9: 21,871,067 (GRCm39) |
G301D |
probably damaging |
Het |
| Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
| Fbxl21 |
A |
T |
13: 56,684,915 (GRCm39) |
T340S |
probably benign |
Het |
| Fcgbpl1 |
G |
T |
7: 27,857,279 (GRCm39) |
C2209F |
probably damaging |
Het |
| Fez1 |
T |
A |
9: 36,755,029 (GRCm39) |
D9E |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,820,256 (GRCm39) |
F5330L |
probably benign |
Het |
| Glis1 |
G |
A |
4: 107,425,544 (GRCm39) |
R197Q |
probably damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
A |
G |
2: 21,832,359 (GRCm39) |
N1153S |
probably benign |
Het |
| Gramd4 |
T |
C |
15: 85,975,730 (GRCm39) |
|
probably null |
Het |
| Hhatl |
T |
A |
9: 121,618,125 (GRCm39) |
Y210F |
possibly damaging |
Het |
| Hltf |
T |
C |
3: 20,140,352 (GRCm39) |
W422R |
probably damaging |
Het |
| Hspa5 |
T |
C |
2: 34,662,704 (GRCm39) |
S87P |
possibly damaging |
Het |
| Il21 |
T |
C |
3: 37,281,811 (GRCm39) |
H111R |
probably benign |
Het |
| Ip6k1 |
G |
A |
9: 107,918,183 (GRCm39) |
G73S |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,545,755 (GRCm39) |
D972G |
possibly damaging |
Het |
| Kif21b |
C |
T |
1: 136,083,880 (GRCm39) |
A709V |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,743,115 (GRCm39) |
|
probably benign |
Het |
| Lrrc14b |
A |
G |
13: 74,511,705 (GRCm39) |
L125P |
probably damaging |
Het |
| Mapk8ip3 |
A |
G |
17: 25,118,828 (GRCm39) |
S1169P |
probably damaging |
Het |
| Me3 |
A |
T |
7: 89,501,041 (GRCm39) |
Y584F |
probably damaging |
Het |
| Mxra7 |
T |
G |
11: 116,707,070 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
C |
11: 79,334,757 (GRCm39) |
S870P |
probably benign |
Het |
| Npr2 |
G |
A |
4: 43,643,350 (GRCm39) |
G525S |
probably damaging |
Het |
| Nyap1 |
A |
T |
5: 137,731,387 (GRCm39) |
S726T |
probably damaging |
Het |
| Padi4 |
A |
G |
4: 140,473,481 (GRCm39) |
V652A |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,726,524 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
G |
A |
4: 99,822,062 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,154,244 (GRCm39) |
S2512P |
probably damaging |
Het |
| Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,254,922 (GRCm39) |
V154A |
probably damaging |
Het |
| Rassf4 |
T |
C |
6: 116,616,450 (GRCm39) |
E287G |
probably damaging |
Het |
| Rnh1 |
C |
T |
7: 140,743,936 (GRCm39) |
R174H |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,317,938 (GRCm39) |
I1517F |
probably damaging |
Het |
| Sftpb |
C |
A |
6: 72,282,797 (GRCm39) |
A90E |
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,556,193 (GRCm39) |
K61R |
probably damaging |
Het |
| Tmem132d |
A |
C |
5: 127,861,922 (GRCm39) |
M733R |
probably benign |
Het |
| Tmem248 |
A |
G |
5: 130,265,664 (GRCm39) |
I156V |
probably benign |
Het |
| Traf2 |
T |
C |
2: 25,414,495 (GRCm39) |
D339G |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,982,362 (GRCm39) |
|
probably null |
Het |
| Tuba8 |
T |
A |
6: 121,199,727 (GRCm39) |
I137N |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,314,103 (GRCm39) |
T663A |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,431 (GRCm39) |
F669I |
probably damaging |
Het |
| Wdr95 |
G |
A |
5: 149,518,861 (GRCm39) |
|
probably null |
Het |
| Wfdc8 |
T |
G |
2: 164,450,789 (GRCm39) |
|
probably benign |
Het |
| Zfp64 |
A |
C |
2: 168,768,238 (GRCm39) |
V458G |
probably benign |
Het |
| Zfp868 |
C |
T |
8: 70,064,519 (GRCm39) |
G272D |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCAATCTGCATCTCATGAACCTG -3'
(R):5'- AATGGAGCAGAGCCCGATTCCAAC -3'
Sequencing Primer
(F):5'- ACCCTGGACAGATGTCCTTG -3'
(R):5'- GCCAGCACAGCAGGTTTC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation