Mutagenetix > Incidental Mutation

Incidental Mutation 'R3405:Bcorl1'

259359

Institutional Source

Beutler Lab

Gene Symbol

Bcorl1

Ensembl Gene

ENSMUSG00000036959

Gene Name

BCL6 co-repressor-like 1

Synonyms

6720425J07Rik

MMRRC Submission

040623-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

R3405 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

47430235-47496926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47459884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1139 (M1139K)

Ref Sequence

ENSEMBL: ENSMUSP00000122000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037596] [ENSMUST00000136348] [ENSMUST00000156042]

AlphaFold

A2AQH4

Predicted Effect

probably benign
Transcript: ENSMUST00000037596
AA Change: M1139K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000039898
Gene: ENSMUSG00000036959
AA Change: M1139K

Domain	Start	End	E-Value	Type
low complexity region	205	218	N/A	INTRINSIC
low complexity region	237	260	N/A	INTRINSIC
low complexity region	268	301	N/A	INTRINSIC
low complexity region	333	365	N/A	INTRINSIC
low complexity region	368	410	N/A	INTRINSIC
low complexity region	521	531	N/A	INTRINSIC
low complexity region	1110	1138	N/A	INTRINSIC
low complexity region	1248	1263	N/A	INTRINSIC
low complexity region	1316	1324	N/A	INTRINSIC
low complexity region	1328	1339	N/A	INTRINSIC
ANK	1493	1523	3.44e1	SMART
ANK	1527	1556	7.02e-5	SMART
ANK	1560	1589	1.25e-1	SMART
Pfam:PUFD	1663	1780	3.7e-54	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000114972
AA Change: M1124K

SMART Domains

Protein: ENSMUSP00000110623
Gene: ENSMUSG00000036959
AA Change: M1124K

Domain	Start	End	E-Value	Type
low complexity region	191	204	N/A	INTRINSIC
low complexity region	223	246	N/A	INTRINSIC
low complexity region	254	287	N/A	INTRINSIC
low complexity region	319	351	N/A	INTRINSIC
low complexity region	354	396	N/A	INTRINSIC
low complexity region	507	517	N/A	INTRINSIC
low complexity region	1096	1124	N/A	INTRINSIC
low complexity region	1234	1249	N/A	INTRINSIC
low complexity region	1302	1310	N/A	INTRINSIC
low complexity region	1314	1325	N/A	INTRINSIC
ANK	1439	1468	7.02e-5	SMART
ANK	1472	1501	1.25e-1	SMART
Pfam:PUFD	1575	1692	1.4e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136348
AA Change: M1139K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000122000
Gene: ENSMUSG00000036959
AA Change: M1139K

Domain	Start	End	E-Value	Type
low complexity region	205	218	N/A	INTRINSIC
low complexity region	237	260	N/A	INTRINSIC
low complexity region	268	301	N/A	INTRINSIC
low complexity region	333	365	N/A	INTRINSIC
low complexity region	368	410	N/A	INTRINSIC
low complexity region	521	531	N/A	INTRINSIC
low complexity region	1110	1138	N/A	INTRINSIC
low complexity region	1248	1263	N/A	INTRINSIC
low complexity region	1316	1324	N/A	INTRINSIC
low complexity region	1328	1339	N/A	INTRINSIC
ANK	1493	1523	3.44e1	SMART
ANK	1527	1556	7.02e-5	SMART
ANK	1560	1589	1.25e-1	SMART
PDB:4HPM\|C	1663	1781	1e-68	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000142160
AA Change: M580K

SMART Domains

Protein: ENSMUSP00000117056
Gene: ENSMUSG00000036959
AA Change: M580K

Domain	Start	End	E-Value	Type
SCOP:d1dcs__	440	573	2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156042

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
C2cd3	T	C	7: 100,039,373 (GRCm39)	S191P	probably benign	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Col3a1	G	A	1: 45,377,913 (GRCm39)		probably benign	Het
Cubn	C	T	2: 13,338,319 (GRCm39)	V2350I	probably benign	Het
Dhodh	G	A	8: 110,330,107 (GRCm39)	R86*	probably null	Het
Dnhd1	C	T	7: 105,343,968 (GRCm39)	Q1771*	probably null	Het
Dpt	A	C	1: 164,624,500 (GRCm39)	E67A	probably damaging	Het
Eif2ak2	A	G	17: 79,166,068 (GRCm39)		probably benign	Het
Exo1	A	G	1: 175,733,536 (GRCm39)	K787E	possibly damaging	Het
Fancm	T	C	12: 65,122,546 (GRCm39)	S23P	probably benign	Het
Fmn1	A	G	2: 113,194,693 (GRCm39)	E131G	unknown	Het
Gm5612	A	T	9: 18,339,149 (GRCm39)		probably benign	Het
Gsdma	T	C	11: 98,563,964 (GRCm39)		probably benign	Het
Hormad2	T	G	11: 4,374,302 (GRCm39)	Q88P	probably damaging	Het
Immp2l	T	A	12: 41,160,846 (GRCm39)	L48*	probably null	Het
Kcne4	C	T	1: 78,795,688 (GRCm39)	A112V	possibly damaging	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Lrrc30	A	G	17: 67,939,175 (GRCm39)	L135P	probably damaging	Het
Ltn1	A	T	16: 87,213,103 (GRCm39)	V486D	probably damaging	Het
Mab21l3	C	A	3: 101,730,847 (GRCm39)	V131F	probably damaging	Het
Map3k4	A	T	17: 12,475,668 (GRCm39)	F809Y	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mlst8	A	T	17: 24,697,099 (GRCm39)	M56K	probably benign	Het
Mmp9	A	G	2: 164,791,310 (GRCm39)	Y160C	probably damaging	Het
Mslnl	A	G	17: 25,965,155 (GRCm39)	Y507C	probably damaging	Het
Myl12a	A	T	17: 71,301,737 (GRCm39)	M130K	probably benign	Het
Myrfl	A	G	10: 116,658,770 (GRCm39)	F396L	probably damaging	Het
Nalf2	A	G	X: 98,889,109 (GRCm39)	I325V	probably benign	Het
Ncf2	A	G	1: 152,701,698 (GRCm39)		probably benign	Het
Nlrp9c	T	A	7: 26,084,707 (GRCm39)	I291F	probably benign	Het
Nrp1	T	A	8: 129,224,569 (GRCm39)	Y777*	probably null	Het
Ogdh	T	C	11: 6,299,462 (GRCm39)	V776A	probably damaging	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Plg	G	T	17: 12,622,096 (GRCm39)	S472I	possibly damaging	Het
Pnlip	A	G	19: 58,669,191 (GRCm39)	T397A	probably benign	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Senp7	T	A	16: 56,008,640 (GRCm39)	W1007R	probably damaging	Het
Stap2	A	T	17: 56,304,511 (GRCm39)	W374R	probably benign	Het
Szt2	A	G	4: 118,251,217 (GRCm39)	V297A	probably benign	Het
Thada	A	T	17: 84,538,213 (GRCm39)		probably benign	Het
Ticrr	G	C	7: 79,344,539 (GRCm39)	S1468T	probably benign	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vwa8	T	A	14: 79,401,660 (GRCm39)		probably benign	Het
Zfp609	A	T	9: 65,608,454 (GRCm39)	M1142K	possibly damaging	Het

Other mutations in Bcorl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Bcorl1	APN	X	47,494,919 (GRCm39)	missense	probably damaging	1.00
IGL00491:Bcorl1	APN	X	47,494,919 (GRCm39)	missense	probably damaging	1.00
IGL00502:Bcorl1	APN	X	47,494,919 (GRCm39)	missense	probably damaging	1.00
IGL00504:Bcorl1	APN	X	47,494,919 (GRCm39)	missense	probably damaging	1.00
IGL00803:Bcorl1	APN	X	47,458,429 (GRCm39)	missense	probably damaging	1.00
IGL02227:Bcorl1	APN	X	47,458,237 (GRCm39)	missense	probably benign	0.04
R0696:Bcorl1	UTSW	X	47,494,895 (GRCm39)	missense	probably damaging	1.00
R1514:Bcorl1	UTSW	X	47,494,821 (GRCm39)	missense	probably damaging	1.00
R2069:Bcorl1	UTSW	X	47,490,794 (GRCm39)	splice site	probably benign
R2102:Bcorl1	UTSW	X	47,458,081 (GRCm39)	missense	probably benign	0.00
R2418:Bcorl1	UTSW	X	47,459,418 (GRCm39)	missense	probably damaging	1.00
R2419:Bcorl1	UTSW	X	47,459,418 (GRCm39)	missense	probably damaging	1.00
R3404:Bcorl1	UTSW	X	47,459,884 (GRCm39)	missense	probably benign	0.02
Z1176:Bcorl1	UTSW	X	47,463,967 (GRCm39)	frame shift	probably null
Z1176:Bcorl1	UTSW	X	47,456,719 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGGCAAGCTCGAGTGAAAC -3'
(R):5'- GAATGAGCTAGGCCCTTTCCAG -3'

Sequencing Primer
(F):5'- CGGGAAAGCATTGGGGTCTTTAC -3'
(R):5'- AGGCCCTTTCCAGGTGAGAATATC -3'

Posted On

2015-01-23