Mutagenetix > Incidental Mutation

Incidental Mutation 'R4941:Bcor'

383157

Institutional Source

Beutler Lab

Gene Symbol

Bcor

Ensembl Gene

ENSMUSG00000040363

Gene Name

BCL6 interacting corepressor

Synonyms

8430401K06Rik, 2900008C10Rik, 5830466J11Rik, D930024N20Rik

MMRRC Submission

042539-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R4941 (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: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.0%

Validation Efficiency

97% (112/116)

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
A4galt	T	A	15: 83,112,529 (GRCm39)	I85F	probably damaging	Het
Abcc6	T	A	7: 45,661,947 (GRCm39)	I435F	probably benign	Het
Adam3	T	C	8: 25,167,332 (GRCm39)		probably benign	Het
Adrb3	T	C	8: 27,717,450 (GRCm39)	Y333C	probably damaging	Het
Ago4	A	T	4: 126,419,847 (GRCm39)	D43E	probably benign	Het
Agt	T	A	8: 125,283,727 (GRCm39)	Q464L	probably benign	Het
Amdhd1	A	T	10: 93,367,463 (GRCm39)	D230E	probably damaging	Het
Aplf	A	G	6: 87,645,405 (GRCm39)	I33T	probably damaging	Het
Aplf	A	T	6: 87,623,331 (GRCm39)	N249K	probably benign	Het
Arap2	A	G	5: 62,906,821 (GRCm39)	M66T	probably benign	Het
Atf4	T	C	15: 80,140,434 (GRCm39)		probably benign	Het
Bahcc1	A	C	11: 120,177,491 (GRCm39)	H2068P	probably benign	Het
Bltp1	A	C	3: 36,971,851 (GRCm39)	H528P	probably damaging	Het
Bltp1	G	A	3: 36,974,050 (GRCm39)	S600N	probably benign	Het
Catsper1	C	A	19: 5,391,466 (GRCm39)	A616D	possibly damaging	Het
Cdkn3	A	G	14: 47,007,320 (GRCm39)	D159G	possibly damaging	Het
Cep162	T	C	9: 87,108,022 (GRCm39)		probably benign	Het
Clca3a1	T	A	3: 144,721,414 (GRCm39)	I386L	probably damaging	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cmtm3	T	C	8: 105,070,460 (GRCm39)	L73P	probably damaging	Het
Cnksr3	A	C	10: 7,102,925 (GRCm39)	L149R	probably benign	Het
Cope	T	C	8: 70,755,584 (GRCm39)		probably null	Het
Cpa6	T	A	1: 10,479,562 (GRCm39)	M224L	probably benign	Het
Cyp2d41-ps	T	C	15: 82,666,154 (GRCm39)		noncoding transcript	Het
Ddx55	T	A	5: 124,706,779 (GRCm39)	L592*	probably null	Het
Deup1	T	C	9: 15,499,323 (GRCm39)	M333V	probably benign	Het
Eif4a1	T	C	11: 69,558,640 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,897,876 (GRCm39)	D1026A	probably damaging	Het
Eif5b	T	C	1: 38,090,280 (GRCm39)	V1153A	probably damaging	Het
Ercc8	G	T	13: 108,297,301 (GRCm39)		probably benign	Het
Fam227a	C	A	15: 79,524,204 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,489,312 (GRCm39)	I3505V	probably benign	Het
Fat3	T	G	9: 16,286,448 (GRCm39)	E1025A	probably damaging	Het
Fat4	C	T	3: 39,011,601 (GRCm39)	R2234W	probably damaging	Het
Fer1l4	G	T	2: 155,887,009 (GRCm39)	F634L	probably damaging	Het
Fetub	G	A	16: 22,756,624 (GRCm39)	V162I	probably benign	Het
Fgd4	T	C	16: 16,302,402 (GRCm39)	Q51R	probably benign	Het
Fgfr2	T	C	7: 129,800,175 (GRCm39)	H140R	probably benign	Het
Flt3	T	A	5: 147,293,185 (GRCm39)		probably null	Het
Gabrb1	A	G	5: 72,294,121 (GRCm39)	N465S	probably damaging	Het
Gapdhs	T	C	7: 30,432,691 (GRCm39)	I206V	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Glp2r	T	C	11: 67,637,529 (GRCm39)		probably null	Het
Gm4956	T	A	1: 21,368,306 (GRCm39)		noncoding transcript	Het
Gtf2a1l	A	T	17: 89,022,350 (GRCm39)	D447V	probably damaging	Het
Hsd3b5	A	G	3: 98,526,379 (GRCm39)	W356R	probably damaging	Het
Idh2	A	T	7: 79,745,847 (GRCm39)	V335D	probably damaging	Het
Isyna1	T	C	8: 71,048,146 (GRCm39)	I184T	probably damaging	Het
Kcnh2	A	G	5: 24,536,085 (GRCm39)	S320P	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kpna6	A	G	4: 129,541,825 (GRCm39)	F524S	probably damaging	Het
Lap3	A	T	5: 45,663,539 (GRCm39)	M338L	probably benign	Het
Lins1	T	C	7: 66,359,198 (GRCm39)		probably benign	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrrc43	A	G	5: 123,639,126 (GRCm39)	D385G	probably benign	Het
Maf	T	C	8: 116,433,532 (GRCm39)	D24G	unknown	Het
Nell1	T	C	7: 49,712,386 (GRCm39)	S69P	probably benign	Het
Nkapd1	G	T	9: 50,518,809 (GRCm39)	Q268K	probably benign	Het
Or13p4	C	T	4: 118,547,089 (GRCm39)	V187I	possibly damaging	Het
Or2h1	C	T	17: 37,404,484 (GRCm39)	G94E	probably damaging	Het
Or2j6	T	A	7: 139,980,792 (GRCm39)	M56L	probably benign	Het
Or51af1	T	C	7: 103,141,458 (GRCm39)	D209G	probably damaging	Het
Or5an10	A	G	19: 12,276,260 (GRCm39)	S79P	possibly damaging	Het
Or8g54	T	C	9: 39,707,160 (GRCm39)	M163T	possibly damaging	Het
Oxld1	T	C	11: 120,347,862 (GRCm39)	T112A	probably benign	Het
Parp14	T	C	16: 35,666,403 (GRCm39)	N1210S	probably benign	Het
Pcdhb10	C	A	18: 37,545,887 (GRCm39)	T321K	probably benign	Het
Pcdhb8	C	T	18: 37,489,059 (GRCm39)	L246F	probably benign	Het
Pcdhga1	T	A	18: 37,795,659 (GRCm39)	I221K	probably benign	Het
Pcdhga9	T	A	18: 37,871,185 (GRCm39)	V338E	probably damaging	Het
Pdcd11	T	C	19: 47,108,325 (GRCm39)	S1231P	probably damaging	Het
Pde6c	A	T	19: 38,140,013 (GRCm39)	L325F	probably damaging	Het
Pnpla7	T	A	2: 24,887,276 (GRCm39)		probably null	Het
Pparg	T	A	6: 115,467,071 (GRCm39)	V478E	probably damaging	Het
Ppib	T	C	9: 65,967,672 (GRCm39)	V42A	probably benign	Het
Ppox	T	C	1: 171,105,166 (GRCm39)	M341V	probably damaging	Het
Proc	T	C	18: 32,258,166 (GRCm39)	K260E	possibly damaging	Het
Ptpro	C	T	6: 137,369,763 (GRCm39)	P525L	probably damaging	Het
Rnf14	C	A	18: 38,441,435 (GRCm39)	A275E	probably damaging	Het
Scnn1b	C	T	7: 121,511,231 (GRCm39)	P306L	probably damaging	Het
Sec14l5	A	G	16: 4,994,364 (GRCm39)	E386G	probably damaging	Het
Sftpa1	T	A	14: 40,854,509 (GRCm39)	I32N	probably damaging	Het
Slc26a5	A	G	5: 22,025,384 (GRCm39)	I408T	probably damaging	Het
Slc7a13	A	G	4: 19,841,467 (GRCm39)	Y438C	probably damaging	Het
Spire1	T	C	18: 67,652,384 (GRCm39)	E231G	possibly damaging	Het
Stab1	T	A	14: 30,873,528 (GRCm39)	I1014F	probably benign	Het
Steap2	T	C	5: 5,727,651 (GRCm39)	Y228C	probably damaging	Het
Tmem131l	T	C	3: 83,806,546 (GRCm39)	T1487A	probably benign	Het
Tmem171	A	G	13: 98,828,803 (GRCm39)	F116L	possibly damaging	Het
Tmem215	T	C	4: 40,474,520 (GRCm39)	V199A	probably damaging	Het
Tmem45a	T	C	16: 56,642,652 (GRCm39)	N173S	possibly damaging	Het
Uqcrc2	C	T	7: 120,242,301 (GRCm39)	R148C	probably benign	Het
Vmn2r116	A	G	17: 23,620,116 (GRCm39)	K617E	probably damaging	Het
Xrcc6	T	C	15: 81,924,013 (GRCm39)	L229P	probably damaging	Het
Yju2	A	G	17: 56,271,149 (GRCm39)	D97G	possibly damaging	Het
Zfp184	A	G	13: 22,133,891 (GRCm39)	D46G	probably damaging	Het
Zfp790	T	A	7: 29,528,916 (GRCm39)	C534S	possibly damaging	Het
Zfp990	A	T	4: 145,263,407 (GRCm39)	N135I	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
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'- TGCCCGAAACCATACTGTGC -3'
(R):5'- AGATGTGTACTTGAGAGCTGAC -3'

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

Posted On

2016-04-27