Mutagenetix > Incidental Mutation

Incidental Mutation 'R5162:Bcor'

397082

Institutional Source

Beutler Lab

Gene Symbol

Bcor

Ensembl Gene

ENSMUSG00000040363

Gene Name

BCL6 interacting corepressor

Synonyms

8430401K06Rik, 2900008C10Rik, 5830466J11Rik, D930024N20Rik

MMRRC Submission

042744-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R5162 (G1)

Quality Score

222

Status

Validated

Chromosome

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: 94.8%

Validation Efficiency

98% (61/62)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,301 (GRCm39)	T229S	probably benign	Het
Adrb3	T	C	8: 27,717,348 (GRCm39)	E367G	probably benign	Het
Ak9	T	A	10: 41,233,653 (GRCm39)	N630K	probably damaging	Het
Atp8b1	T	C	18: 64,694,733 (GRCm39)	I516M	possibly damaging	Het
Cry1	T	A	10: 84,969,150 (GRCm39)	H558L	probably benign	Het
Cstdc3	A	T	16: 36,132,918 (GRCm39)	H65L	probably damaging	Het
Cyp3a57	T	A	5: 145,305,893 (GRCm39)	W126R	probably damaging	Het
Dhx36	A	T	3: 62,401,201 (GRCm39)	V355E	probably damaging	Het
Dpp6	A	G	5: 27,604,013 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	T	C	15: 54,710,692 (GRCm39)	D694G	probably benign	Het
Esrp2	T	C	8: 106,859,930 (GRCm39)	E336G	probably damaging	Het
Faah	A	T	4: 115,857,938 (GRCm39)		probably benign	Het
Fat1	G	A	8: 45,478,846 (GRCm39)	G2608R	probably benign	Het
Fbxo8	A	T	8: 57,022,354 (GRCm39)	Y122F	probably damaging	Het
Fgd5	A	G	6: 92,051,215 (GRCm39)	D1497G	probably damaging	Het
Fn3krp	T	C	11: 121,320,410 (GRCm39)	F252L	probably damaging	Het
Fnip2	T	C	3: 79,389,084 (GRCm39)	Y549C	probably damaging	Het
Gcm2	T	C	13: 41,257,131 (GRCm39)	N206S	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
H2-T10	T	A	17: 36,429,843 (GRCm39)		probably null	Het
Henmt1	T	C	3: 108,847,366 (GRCm39)		probably null	Het
Man1b1	T	A	2: 25,233,365 (GRCm39)	L246Q	probably damaging	Het
Mdh2	T	C	5: 135,812,329 (GRCm39)		probably null	Het
Mocos	T	C	18: 24,787,109 (GRCm39)	F43L	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Naip5	T	A	13: 100,359,914 (GRCm39)	I441F	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nars2	T	C	7: 96,709,027 (GRCm39)		probably benign	Het
Ncoa2	A	T	1: 13,245,396 (GRCm39)	M434K	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,394 (GRCm38)		noncoding transcript	Het
Or14j8	T	A	17: 38,263,255 (GRCm39)	Q220L	probably benign	Het
Or9a2	G	T	6: 41,748,706 (GRCm39)	H176N	possibly damaging	Het
Pals2	T	A	6: 50,155,495 (GRCm39)	W259R	probably damaging	Het
Pars2	A	G	4: 106,511,735 (GRCm39)	T506A	probably benign	Het
Pkp2	T	C	16: 16,078,200 (GRCm39)	S481P	probably damaging	Het
Plod3	T	C	5: 137,020,161 (GRCm39)	W459R	probably damaging	Het
Pramel13	A	T	4: 144,121,482 (GRCm39)	L181M	probably damaging	Het
Prdm10	A	T	9: 31,251,714 (GRCm39)	I361F	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Raver2	T	C	4: 100,959,921 (GRCm39)	C134R	probably damaging	Het
Rnf130	G	C	11: 49,943,722 (GRCm39)	A123P	probably damaging	Het
Slc29a4	G	A	5: 142,707,207 (GRCm39)	A517T	possibly damaging	Het
Slc38a6	T	A	12: 73,376,759 (GRCm39)	S138T	possibly damaging	Het
Spred1	T	C	2: 117,008,102 (GRCm39)	V336A	possibly damaging	Het
Sptlc3	T	A	2: 139,473,263 (GRCm39)	M504K	probably benign	Het
Syt11	T	C	3: 88,655,149 (GRCm39)	D78G	probably damaging	Het
Trim23	C	T	13: 104,317,682 (GRCm39)	T61I	probably damaging	Het
Tsg101	T	C	7: 46,542,174 (GRCm39)	T260A	probably damaging	Het
Tyw5	T	C	1: 57,440,618 (GRCm39)	Y48C	probably damaging	Het
Utp25	G	T	1: 192,796,089 (GRCm39)	T192K	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vmn2r89	C	A	14: 51,693,620 (GRCm39)	H323Q	possibly damaging	Het
Vps18	A	G	2: 119,123,423 (GRCm39)	S117G	probably benign	Het
Zfp93	C	G	7: 23,975,757 (GRCm39)	Q581E	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
R5163:Bcor	UTSW	X	11,906,725 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCGAAACCATACTGTGC -3'
(R):5'- AGATGTGTACTTGAGAGCTGACC -3'

Sequencing Primer
(F):5'- GCACAGGTGAGTCAAACTTTTG -3'
(R):5'- CCCTTCACTGGTACTTTAGAAGAGAG -3'

Posted On

2016-06-21