Incidental Mutation 'R5163:Bcor'
| ID |
397130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcor
|
| Ensembl Gene |
ENSMUSG00000040363 |
| Gene Name |
BCL6 interacting corepressor |
| Synonyms |
8430401K06Rik, 2900008C10Rik, 5830466J11Rik, D930024N20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.889)
|
| Stock # |
R5163 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
11902979-12026594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 11906725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1551
(R1551Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043441]
[ENSMUST00000065143]
[ENSMUST00000115512]
[ENSMUST00000115513]
[ENSMUST00000124033]
|
| AlphaFold |
Q8CGN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043441
AA Change: R1499Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048024
Gene: ENSMUSG00000040363
AA Change: R1499Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
1374 |
1387 |
N/A |
INTRINSIC |
|
ANK
|
1414 |
1444 |
1.6e1 |
SMART |
|
ANK
|
1448 |
1477 |
8.26e-2 |
SMART |
|
ANK
|
1481 |
1510 |
3.06e-5 |
SMART |
|
low complexity region
|
1572 |
1583 |
N/A |
INTRINSIC |
|
PDB:4HPL|A
|
1584 |
1700 |
1e-67 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065143
AA Change: R1517Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068618
Gene: ENSMUSG00000040363
AA Change: R1517Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
1392 |
1405 |
N/A |
INTRINSIC |
|
ANK
|
1432 |
1462 |
1.6e1 |
SMART |
|
ANK
|
1466 |
1495 |
8.26e-2 |
SMART |
|
ANK
|
1499 |
1528 |
3.06e-5 |
SMART |
|
low complexity region
|
1590 |
1601 |
N/A |
INTRINSIC |
|
PDB:4HPL|A
|
1602 |
1718 |
2e-67 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115512
AA Change: R1533Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111174
Gene: ENSMUSG00000040363
AA Change: R1533Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
1408 |
1421 |
N/A |
INTRINSIC |
|
ANK
|
1448 |
1478 |
1.6e1 |
SMART |
|
ANK
|
1482 |
1511 |
8.26e-2 |
SMART |
|
ANK
|
1515 |
1544 |
3.06e-5 |
SMART |
|
low complexity region
|
1606 |
1617 |
N/A |
INTRINSIC |
|
PDB:4HPL|A
|
1618 |
1734 |
2e-67 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115513
AA Change: R1551Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111175
Gene: ENSMUSG00000040363
AA Change: R1551Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
580 |
N/A |
INTRINSIC |
|
Pfam:BCOR
|
1205 |
1417 |
1.6e-77 |
PFAM |
|
low complexity region
|
1426 |
1439 |
N/A |
INTRINSIC |
|
ANK
|
1466 |
1496 |
1.6e1 |
SMART |
|
ANK
|
1500 |
1529 |
8.26e-2 |
SMART |
|
ANK
|
1533 |
1562 |
3.06e-5 |
SMART |
|
low complexity region
|
1624 |
1635 |
N/A |
INTRINSIC |
|
Pfam:PUFD
|
1638 |
1751 |
5.6e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124033
AA Change: R1499Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116258
Gene: ENSMUSG00000040363
AA Change: R1499Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
1374 |
1387 |
N/A |
INTRINSIC |
|
ANK
|
1414 |
1444 |
1.6e1 |
SMART |
|
ANK
|
1448 |
1477 |
8.26e-2 |
SMART |
|
ANK
|
1481 |
1510 |
3.06e-5 |
SMART |
|
low complexity region
|
1572 |
1583 |
N/A |
INTRINSIC |
|
PDB:4HPL|A
|
1584 |
1700 |
1e-67 |
PDB |
|
| Meta Mutation Damage Score |
0.2695 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]
PHENOTYPE: Male chimeras hemizygous for either of two different gene trapped alleles die by E9.5 exhibiting anomalies in somite formation and heart looping, forebrain fusion, and microcephaly. Hemizygosity for other gene trapped alleles can cause patterning and embryo turning defects or abnormal gastrulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Btbd19 |
T |
G |
4: 116,978,628 (GRCm39) |
I152L |
probably damaging |
Het |
| Dnaaf11 |
T |
C |
15: 66,314,067 (GRCm39) |
D311G |
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,219,486 (GRCm39) |
R152H |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,046,845 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,034,946 (GRCm39) |
D2866G |
probably damaging |
Het |
| Fkbp10 |
C |
T |
11: 100,313,925 (GRCm39) |
A311V |
probably benign |
Het |
| Fnbp1l |
T |
C |
3: 122,338,312 (GRCm39) |
N511S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gltp |
A |
G |
5: 114,812,122 (GRCm39) |
I147T |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,669,614 (GRCm39) |
I410N |
possibly damaging |
Het |
| Hivep2 |
G |
A |
10: 14,015,169 (GRCm39) |
G1779R |
probably damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,599 (GRCm39) |
Y146C |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,449,432 (GRCm39) |
D662G |
possibly damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
| Map2k3 |
T |
A |
11: 60,834,317 (GRCm39) |
I95N |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,637,807 (GRCm39) |
I594T |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,168,474 (GRCm39) |
I189V |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Odf4 |
C |
A |
11: 68,813,672 (GRCm39) |
C133F |
probably damaging |
Het |
| Opa1 |
A |
T |
16: 29,416,438 (GRCm39) |
Q106L |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,868,216 (GRCm39) |
N5S |
probably damaging |
Het |
| Pax4 |
T |
G |
6: 28,446,269 (GRCm39) |
S75R |
probably damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,923,629 (GRCm39) |
|
probably null |
Het |
| Ptpn20 |
T |
C |
14: 33,353,068 (GRCm39) |
I269T |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,360,192 (GRCm39) |
Q2161R |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,503,280 (GRCm39) |
D31G |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,664,817 (GRCm39) |
M296K |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,840 (GRCm39) |
T692A |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,325,165 (GRCm39) |
V769A |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,652,762 (GRCm39) |
F621I |
unknown |
Het |
| Spink5 |
A |
C |
18: 44,132,924 (GRCm39) |
R513S |
possibly damaging |
Het |
| Srrm2 |
C |
T |
17: 24,038,524 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,295,035 (GRCm39) |
|
probably null |
Het |
| Sun3 |
T |
C |
11: 8,973,295 (GRCm39) |
Q134R |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,155,979 (GRCm39) |
V174A |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,020,832 (GRCm39) |
R183G |
possibly damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,017 (GRCm39) |
V333A |
probably benign |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,664 (GRCm39) |
Q377R |
probably damaging |
Het |
| Zkscan2 |
T |
C |
7: 123,099,090 (GRCm39) |
E34G |
probably benign |
Het |
| Zup1 |
T |
A |
10: 33,825,439 (GRCm39) |
E14D |
probably damaging |
Het |
|
| Other mutations in Bcor |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00816:Bcor
|
APN |
X |
11,904,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02034:Bcor
|
APN |
X |
11,905,498 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02458:Bcor
|
APN |
X |
11,914,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03330:Bcor
|
APN |
X |
11,925,110 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0648:Bcor
|
UTSW |
X |
11,925,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2147:Bcor
|
UTSW |
X |
11,923,862 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2148:Bcor
|
UTSW |
X |
11,923,862 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4941:Bcor
|
UTSW |
X |
11,906,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Bcor
|
UTSW |
X |
11,906,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5162:Bcor
|
UTSW |
X |
11,906,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGCCCGAAACCATACTG -3'
(R):5'- TGTGTACTTGAGAGCTGACCC -3'
Sequencing Primer
(F):5'- CTGTGCACAGGTGAGTCAAAC -3'
(R):5'- CCCTTCACTGGTACTTTAGAAGAGAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation