Mutagenetix > Incidental Mutation

Incidental Mutation 'R5004:Bcor'

390125

Institutional Source

Beutler Lab

Gene Symbol

Bcor

Ensembl Gene

ENSMUSG00000040363

Gene Name

BCL6 interacting corepressor

Synonyms

8430401K06Rik, 2900008C10Rik, 5830466J11Rik, D930024N20Rik

MMRRC Submission

042597-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R5004 (G1)

Quality Score

222

Status

Not 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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	A	C	8: 13,605,927 (GRCm39)	D189E	possibly damaging	Het
Abca5	C	T	11: 110,170,202 (GRCm39)	E1298K	probably damaging	Het
Actg1	C	A	11: 120,238,986 (GRCm39)		probably benign	Het
Add2	A	G	6: 86,073,728 (GRCm39)	T206A	probably benign	Het
Alox12e	A	G	11: 70,212,330 (GRCm39)	V116A	probably benign	Het
Ankrd27	T	A	7: 35,307,800 (GRCm39)	D346E	probably damaging	Het
Arfgap3	T	A	15: 83,194,497 (GRCm39)	S391C	possibly damaging	Het
Cars2	C	T	8: 11,568,956 (GRCm39)		probably null	Het
Cav3	A	G	6: 112,436,885 (GRCm39)	K38R	probably damaging	Het
Ccdc159	G	A	9: 21,844,241 (GRCm39)	R101H	probably damaging	Het
Cops7b	A	G	1: 86,515,132 (GRCm39)		probably benign	Het
Cyp4a12b	C	T	4: 115,295,310 (GRCm39)	T472I	probably benign	Het
Cyp4a32	T	C	4: 115,458,238 (GRCm39)	S23P	probably damaging	Het
Cyp4f13	T	G	17: 33,144,760 (GRCm39)	I275L	probably benign	Het
Dlgap1	T	A	17: 71,025,222 (GRCm39)		probably null	Het
Dnajc12	A	T	10: 63,222,486 (GRCm39)	I4L	probably benign	Het
Ephb2	T	A	4: 136,387,010 (GRCm39)	D739V	possibly damaging	Het
Fam169a	A	G	13: 97,234,100 (GRCm39)	Y124C	probably damaging	Het
Fbln5	T	A	12: 101,727,080 (GRCm39)	N303I	probably damaging	Het
Fdxr	T	C	11: 115,160,399 (GRCm39)	E352G	probably benign	Het
Fhad1	T	G	4: 141,729,910 (GRCm39)		probably null	Het
Fhod1	C	T	8: 106,063,577 (GRCm39)		probably benign	Het
Fndc7	G	A	3: 108,790,789 (GRCm39)	T79M	probably damaging	Het
Fry	A	G	5: 150,357,069 (GRCm39)	Q1872R	probably benign	Het
Gbx1	T	C	5: 24,709,837 (GRCm39)	H336R	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gpr15lg	A	T	14: 36,824,622 (GRCm39)	C60S	probably damaging	Het
Hacl1	C	A	14: 31,340,996 (GRCm39)	C346F	probably benign	Het
Hectd4	C	A	5: 121,466,262 (GRCm39)		probably null	Het
Hectd4	C	T	5: 121,467,628 (GRCm39)	P2526S	possibly damaging	Het
Il3ra	A	T	14: 14,355,381 (GRCm38)	E289D	probably benign	Het
Itih4	T	G	14: 30,614,629 (GRCm39)	L497R	probably damaging	Het
Kcnh3	A	T	15: 99,124,383 (GRCm39)	K91*	probably null	Het
Kiz	C	G	2: 146,811,899 (GRCm39)	D669E	possibly damaging	Het
Klhl30	T	A	1: 91,287,046 (GRCm39)		probably null	Het
Kndc1	C	A	7: 139,512,792 (GRCm39)	C1514*	probably null	Het
Lipo2	A	G	19: 33,699,076 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,279,268 (GRCm39)	D5921G	probably damaging	Het
Mau2	A	G	8: 70,478,537 (GRCm39)	Y394H	probably damaging	Het
Mctp1	T	A	13: 76,789,923 (GRCm39)	S50R	possibly damaging	Het
Mllt10	T	C	2: 18,175,079 (GRCm39)	Y3H	probably damaging	Het
Mon1b	T	C	8: 114,365,859 (GRCm39)	S396P	probably damaging	Het
Mrgpra4	A	C	7: 47,631,535 (GRCm39)	L22R	probably benign	Het
Msln	T	G	17: 25,973,193 (GRCm39)	M1L	possibly damaging	Het
Myh15	T	A	16: 48,952,411 (GRCm39)	I827N	probably damaging	Het
Myh7	T	C	14: 55,209,140 (GRCm39)	D1866G	probably damaging	Het
Myo5b	T	G	18: 74,877,844 (GRCm39)		probably null	Het
Nlrc5	T	G	8: 95,247,844 (GRCm39)		probably benign	Het
Nup210l	A	T	3: 90,087,472 (GRCm39)	R1082*	probably null	Het
Or12k7	A	G	2: 36,958,422 (GRCm39)	Y35C	probably damaging	Het
Or4f4b	G	A	2: 111,314,005 (GRCm39)	V105I	possibly damaging	Het
Or5p63	T	A	7: 107,811,323 (GRCm39)	K138*	probably null	Het
Or7e169	T	C	9: 19,757,398 (GRCm39)	I172M	probably benign	Het
Pi4ka	A	T	16: 17,195,033 (GRCm39)	C122S	probably damaging	Het
Pkd2l1	G	T	19: 44,138,016 (GRCm39)	A690E	probably benign	Het
Pramel22	T	C	4: 143,380,706 (GRCm39)	Q439R	probably benign	Het
Prickle2	A	T	6: 92,393,736 (GRCm39)	D312E	probably benign	Het
Prrc2a	T	A	17: 35,368,974 (GRCm39)	N2021Y	probably benign	Het
Prss3	T	C	6: 41,350,836 (GRCm39)	Y218C	probably damaging	Het
Psg20	T	C	7: 18,414,837 (GRCm39)	T350A	probably damaging	Het
Ptprg	A	T	14: 12,220,667 (GRCm38)	I1235F	probably damaging	Het
Ptprk	T	A	10: 28,462,059 (GRCm39)	D1181E	possibly damaging	Het
Rcc2	T	A	4: 140,444,977 (GRCm39)	S415T	possibly damaging	Het
Ripor1	CAA	CA	8: 106,345,452 (GRCm39)		probably null	Het
Rnf31	T	C	14: 55,829,639 (GRCm39)	L68P	probably damaging	Het
Rsph6a	A	T	7: 18,791,665 (GRCm39)	E278V	possibly damaging	Het
Rubcnl	C	T	14: 75,269,617 (GRCm39)	Q92*	probably null	Het
Scfd1	A	G	12: 51,491,777 (GRCm39)	R580G	probably benign	Het
Sec31a	A	T	5: 100,516,192 (GRCm39)	N967K	probably damaging	Het
Sema4b	C	A	7: 79,866,093 (GRCm39)	T154N	probably benign	Het
Septin14	T	A	5: 129,770,040 (GRCm39)	I219F	possibly damaging	Het
Serpinb9c	A	T	13: 33,334,338 (GRCm39)	S235T	probably benign	Het
Setd4	G	T	16: 93,388,133 (GRCm39)	H118N	probably benign	Het
Siglec1	C	T	2: 130,911,789 (GRCm39)	V1697M	probably benign	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Soat2	T	A	15: 102,069,546 (GRCm39)	H402Q	probably damaging	Het
Sp3	A	T	2: 72,768,633 (GRCm39)	V666D	probably benign	Het
Spef2	T	G	15: 9,578,413 (GRCm39)	S1704R	probably benign	Het
Spidr	A	T	16: 15,936,806 (GRCm39)	W100R	possibly damaging	Het
Steap1	G	T	5: 5,792,829 (GRCm39)	Y27*	probably null	Het
Svep1	G	T	4: 58,087,751 (GRCm39)	T1776K	probably benign	Het
Tdpoz1	T	A	3: 93,578,440 (GRCm39)	T115S	probably benign	Het
Tet2	A	T	3: 133,193,140 (GRCm39)	H431Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,611,872 (GRCm39)	V170G	probably benign	Het
Tom1	T	C	8: 75,778,630 (GRCm39)	L99P	probably damaging	Het
Trim11	C	A	11: 58,872,164 (GRCm39)		probably benign	Het
Trio	T	C	15: 27,755,264 (GRCm39)	K955R	probably damaging	Het
Tubd1	C	T	11: 86,452,146 (GRCm39)	T371I	probably damaging	Het
Usp17lb	C	T	7: 104,490,884 (GRCm39)	M13I	probably benign	Het
Usp29	A	G	7: 6,965,158 (GRCm39)	M334V	probably benign	Het
Usp34	A	G	11: 23,414,586 (GRCm39)	Y2843C	probably damaging	Het
Utp20	A	T	10: 88,584,135 (GRCm39)	I2674N	probably damaging	Het
Vmn2r14	T	G	5: 109,368,246 (GRCm39)	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,247,848 (GRCm39)	F772I	probably damaging	Het
Vmn2r51	T	A	7: 9,821,932 (GRCm39)	E584D	probably benign	Het
Zbtb22	G	T	17: 34,136,217 (GRCm39)	A121S	probably benign	Het
Zfp273	A	T	13: 67,973,673 (GRCm39)	H267L	probably damaging	Het
Zkscan2	C	T	7: 123,089,267 (GRCm39)	V335M	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
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'- TATCTAGGACTGTAGGTGCCC -3'
(R):5'- AGCTGACCCTTCACTGGTAC -3'

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

Posted On

2016-06-06