Mutagenetix > Incidental Mutation

Incidental Mutation 'R0648:Bcor'

57389

Institutional Source

Beutler Lab

Gene Symbol

Bcor

Ensembl Gene

ENSMUSG00000040363

Gene Name

BCL6 interacting corepressor

Synonyms

8430401K06Rik, 2900008C10Rik, 5830466J11Rik, D930024N20Rik

MMRRC Submission

038833-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R0648 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11902979-12026594 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11925290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 102 (R102Q)

Ref Sequence

ENSEMBL: ENSMUSP00000122829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043441] [ENSMUST00000065143] [ENSMUST00000115512] [ENSMUST00000115513] [ENSMUST00000123004] [ENSMUST00000124033] [ENSMUST00000145872]

AlphaFold

Q8CGN4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043441
AA Change: R102Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048024
Gene: ENSMUSG00000040363
AA Change: R102Q

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

possibly damaging
Transcript: ENSMUST00000065143
AA Change: R102Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068618
Gene: ENSMUSG00000040363
AA Change: R102Q

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

possibly damaging
Transcript: ENSMUST00000115512
AA Change: R102Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111174
Gene: ENSMUSG00000040363
AA Change: R102Q

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

possibly damaging
Transcript: ENSMUST00000115513
AA Change: R102Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111175
Gene: ENSMUSG00000040363
AA Change: R102Q

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 benign
Transcript: ENSMUST00000123004

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124033
AA Change: R102Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116258
Gene: ENSMUSG00000040363
AA Change: R102Q

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: ENSMUST00000145872
AA Change: R102Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.0890

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,184,632 (GRCm39)	V1009A	possibly damaging	Het
Acta2	T	C	19: 34,225,934 (GRCm39)	I87V	probably benign	Het
Arid1a	A	G	4: 133,412,515 (GRCm39)	Y1560H	unknown	Het
Camsap2	A	T	1: 136,232,057 (GRCm39)	D179E	probably damaging	Het
Ccdc168	A	G	1: 44,095,723 (GRCm39)	S1792P	possibly damaging	Het
Ccdc18	T	A	5: 108,283,426 (GRCm39)	S46T	probably damaging	Het
Ccdc18	A	C	5: 108,322,853 (GRCm39)	Q651P	probably damaging	Het
Cdc73	T	C	1: 143,571,200 (GRCm39)	T80A	probably benign	Het
Cdh20	T	A	1: 109,993,337 (GRCm39)		probably benign	Het
Cenpe	G	A	3: 134,935,843 (GRCm39)	G426D	probably damaging	Het
Cenpt	A	G	8: 106,571,592 (GRCm39)	V487A	probably damaging	Het
Clec2m	A	G	6: 129,307,932 (GRCm39)	F46L	probably benign	Het
Col4a1	G	A	8: 11,296,892 (GRCm39)	P84S	unknown	Het
Dennd2d	A	G	3: 106,407,871 (GRCm39)	I450M	probably damaging	Het
Dhps	C	A	8: 85,799,911 (GRCm39)		probably null	Het
Ebf1	A	T	11: 44,882,337 (GRCm39)	H431L	probably damaging	Het
Efcab6	A	G	15: 83,817,265 (GRCm39)		probably benign	Het
Egflam	T	C	15: 7,237,190 (GRCm39)	H990R	probably damaging	Het
Ercc6l2	A	G	13: 63,992,459 (GRCm39)	T303A	probably benign	Het
Fam167b	T	C	4: 129,472,150 (GRCm39)	K7E	probably benign	Het
Fgd3	T	C	13: 49,450,049 (GRCm39)	I67V	probably benign	Het
Fhip1a	A	C	3: 85,637,921 (GRCm39)	V126G	probably damaging	Het
Fn1	A	T	1: 71,636,744 (GRCm39)	V2045D	possibly damaging	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Gpx6	A	T	13: 21,503,047 (GRCm39)	N154Y	probably benign	Het
H2bc21	A	G	3: 96,128,851 (GRCm39)	S124G	probably benign	Het
Haus8	C	A	8: 71,709,174 (GRCm39)	G79V	probably damaging	Het
Hdgfl1	A	T	13: 26,953,836 (GRCm39)	L79Q	probably damaging	Het
Impdh2	T	C	9: 108,440,665 (GRCm39)	Y83H	probably benign	Het
Lama2	T	C	10: 26,865,372 (GRCm39)	T2929A	probably benign	Het
Lpin2	T	C	17: 71,536,307 (GRCm39)	S199P	probably benign	Het
Moap1	T	C	12: 102,708,776 (GRCm39)	T258A	probably benign	Het
Mrps35	C	A	6: 146,957,443 (GRCm39)	S156*	probably null	Het
Mrtfa	A	G	15: 80,901,121 (GRCm39)	S457P	probably damaging	Het
Mtbp	C	T	15: 55,466,597 (GRCm39)	P537S	probably benign	Het
Ncstn	C	A	1: 171,895,454 (GRCm39)	V565F	probably benign	Het
Nhsl1	A	G	10: 18,407,474 (GRCm39)	N1536S	possibly damaging	Het
Nkain4	T	C	2: 180,584,905 (GRCm39)	Q103R	possibly damaging	Het
Nsun2	T	A	13: 69,775,706 (GRCm39)	N383K	probably damaging	Het
Or13p4	C	T	4: 118,547,269 (GRCm39)	V127I	probably benign	Het
Or6c33	A	G	10: 129,853,350 (GRCm39)	N40S	probably damaging	Het
Parp1	C	T	1: 180,428,005 (GRCm39)		probably benign	Het
Pkd1	G	A	17: 24,813,911 (GRCm39)	R4125H	probably damaging	Het
Plxnd1	T	C	6: 115,970,962 (GRCm39)	I269V	possibly damaging	Het
Polr1f	C	T	12: 33,487,999 (GRCm39)	Q305*	probably null	Het
Ppp1r36dn	A	G	12: 76,498,070 (GRCm39)		noncoding transcript	Het
Qrich1	T	A	9: 108,422,076 (GRCm39)	N563K	probably damaging	Het
Rab3il1	TGAAG	TGAAGAAG	19: 10,004,752 (GRCm39)		probably benign	Het
Rell1	G	A	5: 64,082,088 (GRCm39)	T271M	probably benign	Het
Rgl1	A	G	1: 152,412,016 (GRCm39)		probably null	Het
Rph3a	C	T	5: 121,097,333 (GRCm39)	R261H	possibly damaging	Het
Ryr2	A	T	13: 11,739,219 (GRCm39)	M2161K	possibly damaging	Het
Scaf11	T	C	15: 96,316,339 (GRCm39)	N1075S	possibly damaging	Het
Serpina3j	A	G	12: 104,280,938 (GRCm39)	D37G	probably benign	Het
Siah2	A	G	3: 58,583,635 (GRCm39)	V217A	probably damaging	Het
Sik2	T	C	9: 50,810,045 (GRCm39)	D506G	probably benign	Het
Skap2	A	C	6: 51,856,765 (GRCm39)	V279G	probably benign	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Slc9a7	A	T	X: 20,028,659 (GRCm39)		probably benign	Het
Snai3	G	T	8: 123,181,733 (GRCm39)	F241L	probably damaging	Het
Speg	T	C	1: 75,404,622 (GRCm39)	S2805P	probably benign	Het
Spink5	A	T	18: 44,132,864 (GRCm39)		probably benign	Het
Tctn1	C	T	5: 122,389,761 (GRCm39)	E254K	probably benign	Het
Tdrd3	C	T	14: 87,709,618 (GRCm39)	T100M	probably damaging	Het
Tex47	T	C	5: 7,355,215 (GRCm39)	V132A	probably benign	Het
Thbs3	A	G	3: 89,123,972 (GRCm39)		probably null	Het
Tigit	T	A	16: 43,482,401 (GRCm39)	Y111F	probably damaging	Het
Tmem245	A	G	4: 56,906,270 (GRCm39)	I148T	probably benign	Het
Tmem97	A	G	11: 78,441,365 (GRCm39)	Y39H	probably benign	Het
Tnks2	T	A	19: 36,839,474 (GRCm39)		probably null	Het
Trp53bp1	A	G	2: 121,066,188 (GRCm39)	V846A	probably benign	Het
Tulp2	T	G	7: 45,169,210 (GRCm39)	I259S	probably damaging	Het
Ubxn1	G	A	19: 8,851,612 (GRCm39)	R215H	probably damaging	Het
Vmn1r17	A	G	6: 57,337,460 (GRCm39)	F253L	probably damaging	Het
Vmn2r10	T	C	5: 109,143,782 (GRCm39)	M723V	probably benign	Het
Xndc1	T	C	7: 101,728,031 (GRCm39)	V14A	possibly damaging	Het
Xpnpep1	A	G	19: 52,986,294 (GRCm39)		probably benign	Het
Yes1	T	A	5: 32,812,862 (GRCm39)	M322K	possibly damaging	Het
Zdhhc14	C	A	17: 5,543,877 (GRCm39)	N52K	probably benign	Het
Zfp42	A	G	8: 43,749,015 (GRCm39)	V162A	probably benign	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
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
R5163:Bcor	UTSW	X	11,906,725 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCGCAGGTAACTAGCACCATTG -3'
(R):5'- TTTCTTCTGGACCAGGGCTGCTAC -3'

Sequencing Primer
(F):5'- AACCCAAGCTTTCCGCTG -3'
(R):5'- TACTGTGACAGGTGTCCCAAG -3'

Posted On

2013-07-11