Incidental Mutation 'IGL00803:Bcorl1'
| ID |
12495 |
| 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: 0.565)
|
| Stock # |
IGL00803
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
47430235-47496926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 47458429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 654
(T654K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037596]
[ENSMUST00000136348]
[ENSMUST00000156042]
|
| AlphaFold |
A2AQH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037596
AA Change: T654K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039898
Gene: ENSMUSG00000036959
AA Change: T654K
| 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: T639K
|
| SMART Domains |
Protein: ENSMUSP00000110623
Gene: ENSMUSG00000036959
AA Change: T639K
| 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: T654K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122000
Gene: ENSMUSG00000036959
AA Change: T654K
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142160
AA Change: T95K
|
| SMART Domains |
Protein: ENSMUSP00000117056
Gene: ENSMUSG00000036959
AA Change: T95K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dcs__
|
440 |
573 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156042
|
| 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: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cwf19l2 |
T |
A |
9: 3,430,810 (GRCm39) |
S381T |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,938,253 (GRCm39) |
|
probably benign |
Het |
| Derl2 |
A |
T |
11: 70,904,280 (GRCm39) |
V171E |
probably benign |
Het |
| Dst |
G |
A |
1: 34,203,205 (GRCm39) |
V379I |
possibly damaging |
Het |
| Obp1a |
A |
C |
X: 77,134,332 (GRCm39) |
M57R |
probably damaging |
Het |
| Poln |
G |
T |
5: 34,280,104 (GRCm39) |
L253I |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,769,070 (GRCm39) |
Q2773L |
possibly damaging |
Het |
| Slc30a3 |
A |
G |
5: 31,245,388 (GRCm39) |
S311P |
probably damaging |
Het |
| Srl |
G |
T |
16: 4,301,084 (GRCm39) |
F662L |
probably null |
Het |
| Tchhl1 |
A |
G |
3: 93,378,207 (GRCm39) |
T304A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,242,723 (GRCm39) |
|
probably benign |
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 |
|
IGL00504:Bcorl1
|
APN |
X |
47,494,919 (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 |
2012-12-06 |
Incidental Mutation