Incidental Mutation 'IGL00561:Bcl6b'
ID |
9254 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bcl6b
|
Ensembl Gene |
ENSMUSG00000000317 |
Gene Name |
B cell CLL/lymphoma 6, member B |
Synonyms |
Bazf |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.294)
|
Stock # |
IGL00561
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
70114954-70120624 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 70119310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000326]
[ENSMUST00000153449]
|
AlphaFold |
O88282 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000326
|
SMART Domains |
Protein: ENSMUSP00000000326 Gene: ENSMUSG00000000317
Domain | Start | End | E-Value | Type |
BTB
|
38 |
135 |
2.17e-25 |
SMART |
low complexity region
|
143 |
163 |
N/A |
INTRINSIC |
ZnF_C2H2
|
323 |
345 |
4.11e-2 |
SMART |
ZnF_C2H2
|
351 |
373 |
2.12e-4 |
SMART |
ZnF_C2H2
|
379 |
401 |
8.34e-3 |
SMART |
ZnF_C2H2
|
407 |
429 |
1.12e-3 |
SMART |
ZnF_C2H2
|
435 |
458 |
1.33e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140542
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153449
|
SMART Domains |
Protein: ENSMUSP00000121365 Gene: ENSMUSG00000000317
Domain | Start | End | E-Value | Type |
BTB
|
38 |
116 |
2.14e-6 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice display decreased CD4+ and CD8+ cell numbers in the thymus. Homozygous mice for one null allele display decreased secondary responses of memory CD8+ T cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
T |
A |
4: 73,860,956 (GRCm39) |
T215S |
possibly damaging |
Het |
C8a |
G |
A |
4: 104,722,642 (GRCm39) |
|
probably benign |
Het |
Cep152 |
G |
A |
2: 125,405,643 (GRCm39) |
Q1630* |
probably null |
Het |
Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
Elovl5 |
G |
A |
9: 77,868,256 (GRCm39) |
R56Q |
probably benign |
Het |
Fcf1 |
T |
C |
12: 85,019,835 (GRCm39) |
V36A |
probably benign |
Het |
Gdf3 |
A |
G |
6: 122,584,085 (GRCm39) |
L94P |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,450,836 (GRCm39) |
H705L |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,206,421 (GRCm39) |
C83S |
probably damaging |
Het |
Med12l |
T |
A |
3: 59,135,245 (GRCm39) |
S798T |
probably benign |
Het |
Morc3 |
G |
T |
16: 93,670,283 (GRCm39) |
|
probably null |
Het |
Neb |
A |
T |
2: 52,096,117 (GRCm39) |
N1049K |
probably benign |
Het |
Nlrp6 |
A |
G |
7: 140,503,037 (GRCm39) |
D381G |
probably damaging |
Het |
Pcnx1 |
A |
T |
12: 82,042,827 (GRCm39) |
D2303V |
probably damaging |
Het |
Prss45 |
A |
T |
9: 110,669,578 (GRCm39) |
N227I |
probably damaging |
Het |
Rbbp6 |
G |
A |
7: 122,570,286 (GRCm39) |
M34I |
probably damaging |
Het |
Slc30a7 |
T |
C |
3: 115,740,369 (GRCm39) |
|
probably null |
Het |
Smpdl3a |
T |
C |
10: 57,684,042 (GRCm39) |
Y267H |
probably benign |
Het |
Snw1 |
A |
G |
12: 87,497,574 (GRCm39) |
|
probably null |
Het |
Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
Tbx19 |
A |
G |
1: 164,987,968 (GRCm39) |
V55A |
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,850,508 (GRCm39) |
S1059P |
probably damaging |
Het |
Tpo |
G |
A |
12: 30,134,619 (GRCm39) |
P780S |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,570,055 (GRCm39) |
T26946M |
probably damaging |
Het |
Vps33b |
A |
G |
7: 79,935,591 (GRCm39) |
E372G |
probably damaging |
Het |
Vwf |
T |
C |
6: 125,619,684 (GRCm39) |
V1454A |
possibly damaging |
Het |
Zbbx |
C |
T |
3: 74,968,839 (GRCm39) |
|
probably null |
Het |
Zfp747l1 |
T |
A |
7: 126,985,716 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Bcl6b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01942:Bcl6b
|
APN |
11 |
70,117,569 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02338:Bcl6b
|
APN |
11 |
70,119,918 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02725:Bcl6b
|
APN |
11 |
70,119,344 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02741:Bcl6b
|
APN |
11 |
70,119,942 (GRCm39) |
missense |
probably damaging |
0.99 |
R4407:Bcl6b
|
UTSW |
11 |
70,116,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R5508:Bcl6b
|
UTSW |
11 |
70,116,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5998:Bcl6b
|
UTSW |
11 |
70,119,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:Bcl6b
|
UTSW |
11 |
70,116,878 (GRCm39) |
missense |
probably benign |
|
R6600:Bcl6b
|
UTSW |
11 |
70,119,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R7107:Bcl6b
|
UTSW |
11 |
70,117,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R7896:Bcl6b
|
UTSW |
11 |
70,117,848 (GRCm39) |
nonsense |
probably null |
|
R8690:Bcl6b
|
UTSW |
11 |
70,117,447 (GRCm39) |
missense |
probably damaging |
0.99 |
R9223:Bcl6b
|
UTSW |
11 |
70,117,400 (GRCm39) |
nonsense |
probably null |
|
R9594:Bcl6b
|
UTSW |
11 |
70,118,858 (GRCm39) |
critical splice donor site |
probably null |
|
R9733:Bcl6b
|
UTSW |
11 |
70,119,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-12-06 |