Incidental Mutation 'IGL03330:Bcor'
ID416848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcor
Ensembl Gene ENSMUSG00000040363
Gene NameBCL6 interacting corepressor
Synonyms5830466J11Rik, D930024N20Rik, 8430401K06Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.891) question?
Stock #IGL03330
Quality Score
Status
ChromosomeX
Chromosomal Location12036740-12160355 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 12058871 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 162 (T162I)
Ref Sequence ENSEMBL: ENSMUSP00000116258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043441] [ENSMUST00000065143] [ENSMUST00000115512] [ENSMUST00000115513] [ENSMUST00000123004] [ENSMUST00000124033] [ENSMUST00000145872]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043441
AA Change: T162I

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048024
Gene: ENSMUSG00000040363
AA Change: T162I

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000065143
AA Change: T162I

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000068618
Gene: ENSMUSG00000040363
AA Change: T162I

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000115512
AA Change: T162I

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111174
Gene: ENSMUSG00000040363
AA Change: T162I

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000115513
AA Change: T162I

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111175
Gene: ENSMUSG00000040363
AA Change: T162I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000123004
Predicted Effect possibly damaging
Transcript: ENSMUST00000124033
AA Change: T162I

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116258
Gene: ENSMUSG00000040363
AA Change: T162I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000145872
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 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,159,428 I837V probably damaging Het
Actr2 A G 11: 20,091,330 V138A probably benign Het
Adam30 G A 3: 98,162,456 C535Y probably damaging Het
Catsperd C A 17: 56,632,316 N48K possibly damaging Het
Ccr2 T C 9: 124,105,959 I92T probably damaging Het
Cp A G 3: 19,966,435 I197M probably damaging Het
Cpne3 T A 4: 19,553,774 T86S possibly damaging Het
Dnm3 A T 1: 162,320,991 D270E probably benign Het
Enpp1 C T 10: 24,664,906 probably benign Het
Ephx1 A G 1: 180,999,806 V94A possibly damaging Het
Fbxw25 T C 9: 109,645,239 M448V probably benign Het
Fhl2 A G 1: 43,153,191 L14P probably damaging Het
Gabra4 T C 5: 71,641,064 R191G probably null Het
Gtpbp6 T C 5: 110,107,063 T151A possibly damaging Het
Lars T A 18: 42,219,944 M803L probably benign Het
Myc A G 15: 61,988,149 T224A probably benign Het
Noxa1 T A 2: 25,090,514 D161V possibly damaging Het
Olfr317 A C 11: 58,732,919 L82R probably damaging Het
Olfr723 C T 14: 49,929,221 G108R probably damaging Het
Olfr965 C T 9: 39,719,488 T87I probably benign Het
Peg3 G T 7: 6,710,413 N603K probably damaging Het
Rhox4c G T X: 37,480,528 G15V probably benign Het
Sgcb T A 5: 73,639,869 S183C probably damaging Het
Slc6a19 T A 13: 73,689,560 I239F possibly damaging Het
Socs7 T C 11: 97,378,552 Y399H probably damaging Het
Stc2 T C 11: 31,369,804 D20G probably benign Het
Tmem184b A T 15: 79,369,979 probably null Het
Tpo A G 12: 30,103,501 S285P probably damaging Het
Vmn2r27 G T 6: 124,230,180 Y167* probably null Het
Other mutations in Bcor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Bcor APN X 12037820 missense probably damaging 0.99
IGL02034:Bcor APN X 12039259 missense possibly damaging 0.46
IGL02458:Bcor APN X 12048510 missense probably damaging 1.00
R0648:Bcor UTSW X 12059051 missense probably damaging 1.00
R2147:Bcor UTSW X 12057623 missense possibly damaging 0.73
R2148:Bcor UTSW X 12057623 missense possibly damaging 0.73
R4941:Bcor UTSW X 12040486 missense probably damaging 1.00
R5004:Bcor UTSW X 12040486 missense probably damaging 1.00
R5162:Bcor UTSW X 12040486 missense probably damaging 1.00
R5163:Bcor UTSW X 12040486 missense probably damaging 1.00
Posted On2016-08-02