Incidental Mutation 'IGL00504:Bcorl1'
| ID |
332517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bcorl1
|
| Ensembl Gene |
ENSMUSG00000036959 |
| Gene Name |
BCL6 co-repressor-like 1 |
| Synonyms |
6720425J07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.547)
|
| Stock # |
IGL00504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
47430235-47496926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 47494919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 1730
(V1730G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037596]
[ENSMUST00000136348]
|
| AlphaFold |
A2AQH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037596
AA Change: V1730G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039898
Gene: ENSMUSG00000036959
AA Change: V1730G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
205 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1316 |
1324 |
N/A |
INTRINSIC |
|
low complexity region
|
1328 |
1339 |
N/A |
INTRINSIC |
|
ANK
|
1493 |
1523 |
3.44e1 |
SMART |
|
ANK
|
1527 |
1556 |
7.02e-5 |
SMART |
|
ANK
|
1560 |
1589 |
1.25e-1 |
SMART |
|
Pfam:PUFD
|
1663 |
1780 |
3.7e-54 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000114972
AA Change: V1641G
|
| SMART Domains |
Protein: ENSMUSP00000110623
Gene: ENSMUSG00000036959
AA Change: V1641G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
191 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1124 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1249 |
N/A |
INTRINSIC |
|
low complexity region
|
1302 |
1310 |
N/A |
INTRINSIC |
|
low complexity region
|
1314 |
1325 |
N/A |
INTRINSIC |
|
ANK
|
1439 |
1468 |
7.02e-5 |
SMART |
|
ANK
|
1472 |
1501 |
1.25e-1 |
SMART |
|
Pfam:PUFD
|
1575 |
1692 |
1.4e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136348
AA Change: V1730G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122000
Gene: ENSMUSG00000036959
AA Change: V1730G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
205 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1316 |
1324 |
N/A |
INTRINSIC |
|
low complexity region
|
1328 |
1339 |
N/A |
INTRINSIC |
|
ANK
|
1493 |
1523 |
3.44e1 |
SMART |
|
ANK
|
1527 |
1556 |
7.02e-5 |
SMART |
|
ANK
|
1560 |
1589 |
1.25e-1 |
SMART |
|
PDB:4HPM|C
|
1663 |
1781 |
1e-68 |
PDB |
|
| Coding Region Coverage |
|
| 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 is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atpaf2 |
T |
C |
11: 60,296,629 (GRCm39) |
D168G |
probably damaging |
Het |
| Cela3b |
A |
T |
4: 137,150,592 (GRCm39) |
V202E |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,202,034 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,024,338 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
T |
G |
7: 86,383,351 (GRCm39) |
R465S |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,714 (GRCm39) |
Q214L |
probably damaging |
Het |
| Ldb2 |
T |
A |
5: 44,699,026 (GRCm39) |
|
probably null |
Het |
| Lmln |
A |
G |
16: 32,903,435 (GRCm39) |
N283S |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,981,352 (GRCm39) |
N508S |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,467,518 (GRCm39) |
G1419C |
probably benign |
Het |
| Pafah1b3 |
T |
A |
7: 24,995,614 (GRCm39) |
T115S |
probably benign |
Het |
| Pcdhb5 |
C |
A |
18: 37,455,162 (GRCm39) |
A514E |
probably damaging |
Het |
| Prl8a8 |
G |
T |
13: 27,693,593 (GRCm39) |
T144K |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,136,272 (GRCm39) |
K105* |
probably null |
Het |
| Rin1 |
T |
C |
19: 5,102,438 (GRCm39) |
S316P |
probably benign |
Het |
| Serpinb3b |
A |
T |
1: 107,085,411 (GRCm39) |
F110Y |
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,607 (GRCm39) |
P55L |
probably benign |
Het |
| Slc10a2 |
T |
A |
8: 5,141,668 (GRCm39) |
S239C |
probably damaging |
Het |
| Slc10a2 |
C |
A |
8: 5,141,667 (GRCm39) |
S239I |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,225,002 (GRCm39) |
V30A |
probably benign |
Het |
| Sncaip |
T |
G |
18: 53,018,035 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
T |
C |
7: 137,811,533 (GRCm39) |
R554G |
probably damaging |
Het |
| Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,202 (GRCm39) |
I116T |
probably damaging |
Het |
| Tprg1l |
A |
G |
4: 154,242,890 (GRCm39) |
S188P |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,407,925 (GRCm39) |
R1398H |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,839,394 (GRCm39) |
V2050E |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,229,853 (GRCm39) |
C362R |
probably damaging |
Het |
|
| Other mutations in Bcorl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Bcorl1
|
APN |
X |
47,494,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00491:Bcorl1
|
APN |
X |
47,494,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00502:Bcorl1
|
APN |
X |
47,494,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00803:Bcorl1
|
APN |
X |
47,458,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02227:Bcorl1
|
APN |
X |
47,458,237 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0696:Bcorl1
|
UTSW |
X |
47,494,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Bcorl1
|
UTSW |
X |
47,494,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Bcorl1
|
UTSW |
X |
47,490,794 (GRCm39) |
splice site |
probably benign |
|
|
R2102:Bcorl1
|
UTSW |
X |
47,458,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2418:Bcorl1
|
UTSW |
X |
47,459,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Bcorl1
|
UTSW |
X |
47,459,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Bcorl1
|
UTSW |
X |
47,459,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3405:Bcorl1
|
UTSW |
X |
47,459,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Bcorl1
|
UTSW |
X |
47,463,967 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Bcorl1
|
UTSW |
X |
47,456,719 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation