Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Bcor'

233968

Institutional Source

Beutler Lab

Gene Symbol

Bcor

Ensembl Gene

ENSMUSG00000040363

Gene Name

BCL6 interacting corepressor

Synonyms

8430401K06Rik, 2900008C10Rik, 5830466J11Rik, D930024N20Rik

MMRRC Submission

040150-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R2147 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

11902979-12026594 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11923862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 578 (A578V)

Ref Sequence

ENSEMBL: ENSMUSP00000116258 (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: A578V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000048024
Gene: ENSMUSG00000040363
AA Change: A578V

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: A578V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000068618
Gene: ENSMUSG00000040363
AA Change: A578V

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: A578V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111174
Gene: ENSMUSG00000040363
AA Change: A578V

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: A578V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111175
Gene: ENSMUSG00000040363
AA Change: A578V

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: A578V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116258
Gene: ENSMUSG00000040363
AA Change: A578V

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 benign
Transcript: ENSMUST00000145872

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,903,003 (GRCm39)	M91K	probably benign	Het
Abr	T	C	11: 76,346,474 (GRCm39)	R437G	probably damaging	Het
Acaca	T	G	11: 84,167,362 (GRCm39)	D1045E	probably benign	Het
Adam23	A	T	1: 63,573,521 (GRCm39)		probably null	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Alg11	G	A	8: 22,555,309 (GRCm39)	G108D	probably damaging	Het
Alox12e	A	T	11: 70,210,771 (GRCm39)	I316N	probably damaging	Het
Arid1a	A	T	4: 133,408,677 (GRCm39)	F1943L	unknown	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC035044	T	C	6: 128,867,867 (GRCm39)		probably benign	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccnf	A	T	17: 24,449,288 (GRCm39)		probably null	Het
Cdadc1	A	G	14: 59,835,202 (GRCm39)		probably null	Het
Cep57l1	A	G	10: 41,616,895 (GRCm39)	Y131H	probably damaging	Het
Cfap251	T	C	5: 123,394,254 (GRCm39)	V381A	probably benign	Het
Cfap44	A	G	16: 44,272,047 (GRCm39)	R1267G	probably benign	Het
Chd3	A	T	11: 69,239,854 (GRCm39)	L1658Q	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chpf2	T	A	5: 24,797,033 (GRCm39)	F660I	probably damaging	Het
Cmas	T	A	6: 142,717,015 (GRCm39)	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562 (GRCm39)	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dennd3	T	G	15: 73,395,336 (GRCm39)	L143R	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,855,024 (GRCm39)		probably null	Het
Fbxl15	A	T	19: 46,317,627 (GRCm39)	D103V	probably damaging	Het
Gm4781	C	A	10: 100,232,414 (GRCm39)		noncoding transcript	Het
Hpca	A	G	4: 129,012,278 (GRCm39)	I86T	possibly damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lipe	G	T	7: 25,087,946 (GRCm39)	A38E	probably benign	Het
Lrrk1	A	T	7: 65,935,159 (GRCm39)		probably null	Het
Lrsam1	T	C	2: 32,835,891 (GRCm39)	K292R	probably damaging	Het
Mbtps1	A	T	8: 120,265,598 (GRCm39)	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063 (GRCm39)	Y525*	probably null	Het
Mrps14	T	C	1: 160,022,862 (GRCm39)	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo15a	A	G	11: 60,401,055 (GRCm39)	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,966,543 (GRCm39)	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,451,243 (GRCm39)	F42I	probably benign	Het
Or5k8	T	A	16: 58,644,842 (GRCm39)	I77F	probably damaging	Het
Pank1	T	C	19: 34,804,754 (GRCm39)	H134R	probably benign	Het
Pcdh7	T	A	5: 58,286,458 (GRCm39)	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,717,633 (GRCm39)	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pitpnc1	C	T	11: 107,103,344 (GRCm39)	A252T	probably damaging	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Prpf8	A	G	11: 75,381,357 (GRCm39)	I231V	probably benign	Het
Scin	T	A	12: 40,130,984 (GRCm39)	M310L	probably benign	Het
Serpina3m	T	A	12: 104,355,483 (GRCm39)	I50N	probably benign	Het
Skint8	C	G	4: 111,794,274 (GRCm39)	N221K	probably damaging	Het
Slc22a23	C	T	13: 34,366,990 (GRCm39)	V673M	probably benign	Het
Slc24a5	A	G	2: 124,929,361 (GRCm39)	D368G	probably damaging	Het
Slc28a1	A	T	7: 80,776,015 (GRCm39)	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,705,583 (GRCm39)	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,262,717 (GRCm39)	Y320H	probably damaging	Het
Syne3	T	A	12: 104,919,357 (GRCm39)	D512V	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Tcp10a	T	C	17: 7,601,701 (GRCm39)	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,223,861 (GRCm39)	I217V	probably benign	Het
Tmem45b	A	G	9: 31,340,277 (GRCm39)	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,412,456 (GRCm39)	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,840,116 (GRCm39)	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,132,139 (GRCm39)	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,694,811 (GRCm39)	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,114,583 (GRCm39)	I82M	probably benign	Het
Vmn2r129	T	C	4: 156,687,014 (GRCm39)		noncoding transcript	Het
Vps41	G	T	13: 19,023,904 (GRCm39)		probably null	Het
Wnt5a	A	G	14: 28,235,274 (GRCm39)	Y86C	probably damaging	Het
Zfp629	T	C	7: 127,209,616 (GRCm39)	H731R	probably damaging	Het
Zfp712	T	C	13: 67,189,960 (GRCm39)	E189G	possibly 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
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'- GAGGCCATTCTCACTCGCTTTG -3'
(R):5'- ATCAGAGATCATCAGCACTGCTC -3'

Sequencing Primer
(F):5'- CTTTGAAGCTCGGTTCTGGG -3'
(R):5'- TGCCAGGGCCAAGTCCTAATG -3'

Posted On

2014-10-01