Incidental Mutation 'R6600:Bcl6b'
| ID |
525207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl6b
|
| Ensembl Gene |
ENSMUSG00000000317 |
| Gene Name |
B cell CLL/lymphoma 6, member B |
| Synonyms |
Bazf |
| MMRRC Submission |
044724-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.379)
|
| Stock # |
R6600 (G1)
|
| Quality Score |
209.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70114954-70120624 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70119954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 11
(L11Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000326]
[ENSMUST00000153449]
|
| AlphaFold |
O88282 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000326
AA Change: L11Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000326
Gene: ENSMUSG00000000317
AA Change: L11Q
| 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
AA Change: L11Q
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121365
Gene: ENSMUSG00000000317
AA Change: L11Q
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
38 |
116 |
2.14e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.0809 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACGC |
ACGCGC |
5: 138,645,710 (GRCm39) |
|
probably null |
Het |
| Adam1b |
C |
T |
5: 121,639,530 (GRCm39) |
C505Y |
probably damaging |
Het |
| Adam24 |
C |
A |
8: 41,133,587 (GRCm39) |
H352N |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 143,025,702 (GRCm39) |
V165E |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,836,192 (GRCm39) |
N852S |
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,591 (GRCm39) |
C110R |
probably damaging |
Het |
| Cdk2ap1rt |
A |
C |
11: 48,717,115 (GRCm39) |
V21G |
probably damaging |
Het |
| Clasrp |
T |
A |
7: 19,324,207 (GRCm39) |
K223* |
probably null |
Het |
| Col5a1 |
C |
A |
2: 27,887,583 (GRCm39) |
N951K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,491 (GRCm39) |
T171A |
probably benign |
Het |
| Dse |
A |
G |
10: 34,028,537 (GRCm39) |
I851T |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxo24 |
T |
A |
5: 137,611,135 (GRCm39) |
I413F |
probably damaging |
Het |
| Flywch2 |
C |
A |
17: 23,997,084 (GRCm39) |
G109V |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,393,925 (GRCm39) |
D787G |
probably benign |
Het |
| Gramd1c |
T |
A |
16: 43,860,482 (GRCm39) |
R72* |
probably null |
Het |
| Hspd1 |
T |
C |
1: 55,117,777 (GRCm39) |
I494V |
probably benign |
Het |
| Limch1 |
T |
C |
5: 66,903,281 (GRCm39) |
V10A |
probably benign |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,569 (GRCm39) |
S658F |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,666 (GRCm39) |
G1113S |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,782,938 (GRCm39) |
I157T |
probably benign |
Het |
| Or4a67 |
A |
G |
2: 88,598,101 (GRCm39) |
V186A |
probably benign |
Het |
| Pdlim5 |
T |
C |
3: 141,965,039 (GRCm39) |
R126G |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,824,259 (GRCm39) |
R311* |
probably null |
Het |
| Ptcd3 |
T |
C |
6: 71,860,530 (GRCm39) |
Y559C |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,786,543 (GRCm39) |
S852P |
probably damaging |
Het |
| Rps6kb2 |
A |
T |
19: 4,208,850 (GRCm39) |
M259K |
probably damaging |
Het |
| Sema4b |
T |
C |
7: 79,862,676 (GRCm39) |
L84P |
probably benign |
Het |
| Slf1 |
A |
C |
13: 77,231,655 (GRCm39) |
S575A |
probably benign |
Het |
| Tjap1 |
T |
C |
17: 46,570,924 (GRCm39) |
N173S |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,803,781 (GRCm39) |
M1K |
probably null |
Het |
| Ubr1 |
C |
A |
2: 120,745,880 (GRCm39) |
K851N |
probably benign |
Het |
| Zfp568 |
C |
A |
7: 29,721,948 (GRCm39) |
R298S |
possibly damaging |
Het |
|
| Other mutations in Bcl6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00561:Bcl6b
|
APN |
11 |
70,119,310 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGACCATTATTCCCAGCTTC -3'
(R):5'- TGCTGAGTCCGCTATCTGATG -3'
Sequencing Primer
(F):5'- TGGATTACCTCTCAACAGCCATG -3'
(R):5'- CTATCTGATGGCGTTGGTTGGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation