Incidental Mutation 'R9540:Bcl3'
| ID |
719841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl3
|
| Ensembl Gene |
ENSMUSG00000053175 |
| Gene Name |
B cell leukemia/lymphoma 3 |
| Synonyms |
Bcl-3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9540 (G1)
|
| Quality Score |
168.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19542387-19556691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19556445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 53
(D53V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120537]
|
| AlphaFold |
Q9Z2F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120537
AA Change: D53V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113851
Gene: ENSMUSG00000053175
AA Change: D53V
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
129 |
162 |
4.01e0 |
SMART |
|
ANK
|
166 |
195 |
4.43e-2 |
SMART |
|
ANK
|
199 |
230 |
8.99e-3 |
SMART |
|
ANK
|
236 |
265 |
3.23e-4 |
SMART |
|
ANK
|
270 |
299 |
5.79e-6 |
SMART |
|
ANK
|
303 |
332 |
1.4e1 |
SMART |
|
low complexity region
|
377 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
447 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking functional copies of this gene exhibit defects of the immune system including disruption of the humoral immune response and abnormal spleen and Peyer's patch organogenesis. Mutant mice show increased susceptibility to pathogens. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,134,237 (GRCm39) |
M450K |
probably damaging |
Het |
| Akr1e1 |
A |
T |
13: 4,657,393 (GRCm39) |
S68R |
probably damaging |
Het |
| Alg1 |
A |
G |
16: 5,061,595 (GRCm39) |
K411E |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,108 (GRCm39) |
F80L |
probably benign |
Het |
| Crybg2 |
T |
C |
4: 133,816,225 (GRCm39) |
V1334A |
probably damaging |
Het |
| Eif4e1b |
A |
G |
13: 54,933,338 (GRCm39) |
D118G |
probably damaging |
Het |
| Epha10 |
T |
C |
4: 124,779,751 (GRCm39) |
V199A |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,063,346 (GRCm39) |
H4434R |
probably benign |
Het |
| Or10ak7 |
T |
C |
4: 118,792,034 (GRCm39) |
I4V |
probably benign |
Het |
| Pcdhb16 |
A |
G |
18: 37,613,320 (GRCm39) |
D760G |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,651,682 (GRCm39) |
S20T |
probably benign |
Het |
| Pkhd1 |
A |
C |
1: 20,269,570 (GRCm39) |
S3325A |
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,461 (GRCm39) |
D103G |
probably benign |
Het |
| Sds |
G |
T |
5: 120,618,927 (GRCm39) |
W130L |
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,260,127 (GRCm39) |
I338T |
probably benign |
Het |
| Ugt2b1 |
A |
T |
5: 87,069,771 (GRCm39) |
N323K |
possibly damaging |
Het |
| Vcam1 |
A |
G |
3: 115,911,019 (GRCm39) |
S460P |
possibly damaging |
Het |
| Zap70 |
A |
G |
1: 36,817,869 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Zzz3 |
G |
A |
3: 152,156,306 (GRCm39) |
W687* |
probably null |
Het |
|
| Other mutations in Bcl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01510:Bcl3
|
APN |
7 |
19,543,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01669:Bcl3
|
APN |
7 |
19,546,416 (GRCm39) |
nonsense |
probably null |
|
|
IGL03024:Bcl3
|
APN |
7 |
19,543,059 (GRCm39) |
splice site |
probably benign |
|
|
Memorial
|
UTSW |
7 |
19,546,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sunrise
|
UTSW |
7 |
19,545,505 (GRCm39) |
nonsense |
probably null |
|
|
sunrise2
|
UTSW |
7 |
19,543,559 (GRCm39) |
nonsense |
probably null |
|
|
R0124:Bcl3
|
UTSW |
7 |
19,543,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Bcl3
|
UTSW |
7 |
19,543,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Bcl3
|
UTSW |
7 |
19,553,991 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1845:Bcl3
|
UTSW |
7 |
19,543,552 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2571:Bcl3
|
UTSW |
7 |
19,543,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Bcl3
|
UTSW |
7 |
19,545,505 (GRCm39) |
nonsense |
probably null |
|
|
R4597:Bcl3
|
UTSW |
7 |
19,546,428 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4993:Bcl3
|
UTSW |
7 |
19,554,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5587:Bcl3
|
UTSW |
7 |
19,543,559 (GRCm39) |
nonsense |
probably null |
|
|
R6232:Bcl3
|
UTSW |
7 |
19,546,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Bcl3
|
UTSW |
7 |
19,556,536 (GRCm39) |
missense |
probably benign |
|
|
R7565:Bcl3
|
UTSW |
7 |
19,546,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Bcl3
|
UTSW |
7 |
19,554,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9105:Bcl3
|
UTSW |
7 |
19,543,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Bcl3
|
UTSW |
7 |
19,556,602 (GRCm39) |
start codon destroyed |
probably null |
0.14 |
|
RF022:Bcl3
|
UTSW |
7 |
19,542,966 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACCCCAACTATTTGTGTCC -3'
(R):5'- AAGTCCCTTCAGTTCAGTCG -3'
Sequencing Primer
(F):5'- CCTGTGTTCTGCTGACCTTAGG -3'
(R):5'- TTCAGTTCAGTCGGCGGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation