Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00502:Bcorl1'

332471

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bcorl1

Ensembl Gene

ENSMUSG00000036959

Gene Name

BCL6 co-repressor-like 1

Synonyms

6720425J07Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

IGL00502

Quality Score

Status

Chromosome

Chromosomal Location

47430235-47496926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 47494919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1730 (V1730G)

Ref Sequence

ENSEMBL: ENSMUSP00000122000 (fasta)

Gene Model

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

AlphaFold

A2AQH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000037596
AA Change: V1730G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039898
Gene: ENSMUSG00000036959
AA Change: V1730G

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: V1641G

SMART Domains

Protein: ENSMUSP00000110623
Gene: ENSMUSG00000036959
AA Change: V1641G

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 damaging
Transcript: ENSMUST00000136348
AA Change: V1730G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122000
Gene: ENSMUSG00000036959
AA Change: V1730G

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

Coding Region Coverage

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 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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	T	15: 94,301,278 (GRCm39)	I82N	probably damaging	Het
Ampd2	A	T	3: 107,984,712 (GRCm39)	L422H	probably damaging	Het
Angptl2	T	A	2: 33,118,406 (GRCm39)	V60E	probably damaging	Het
Ano3	G	A	2: 110,601,395 (GRCm39)		probably benign	Het
Arhgap40	A	G	2: 158,373,078 (GRCm39)	D112G	probably benign	Het
Btrc	A	T	19: 45,515,704 (GRCm39)	E553V	probably damaging	Het
Cacna1b	A	T	2: 24,541,212 (GRCm39)	Y1323*	probably null	Het
Ccdc146	A	G	5: 21,506,420 (GRCm39)	C674R	possibly damaging	Het
Ccdc170	A	G	10: 4,496,836 (GRCm39)	D458G	probably damaging	Het
Cfap57	T	A	4: 118,438,198 (GRCm39)	M898L	probably benign	Het
Crybg1	C	T	10: 43,834,309 (GRCm39)	V1961I	probably damaging	Het
Dsp	T	C	13: 38,381,822 (GRCm39)	S2257P	probably damaging	Het
Dytn	A	G	1: 63,717,999 (GRCm39)	V12A	probably benign	Het
Foxk2	A	G	11: 121,187,925 (GRCm39)		probably benign	Het
Galnt2l	T	C	8: 125,054,837 (GRCm39)	M204T	probably damaging	Het
Gfi1b	G	A	2: 28,504,797 (GRCm39)	Q70*	probably null	Het
Gsdmc	T	C	15: 63,676,270 (GRCm39)	T58A	probably benign	Het
Hikeshi	G	A	7: 89,572,818 (GRCm39)	T26I	probably benign	Het
Mpdz	T	C	4: 81,287,960 (GRCm39)	D433G	probably damaging	Het
Ndufb5	T	A	3: 32,799,048 (GRCm39)	V55D	probably damaging	Het
Nostrin	T	C	2: 69,014,336 (GRCm39)	S431P	probably benign	Het
Pdcd1lg2	A	T	19: 29,423,462 (GRCm39)	T169S	possibly damaging	Het
Plekha7	A	T	7: 115,734,419 (GRCm39)	M1006K	probably damaging	Het
Rgs6	A	T	12: 83,098,097 (GRCm39)	I94F	probably benign	Het
Rims2	A	T	15: 39,370,380 (GRCm39)	D938V	probably damaging	Het
Slc4a8	A	G	15: 100,705,319 (GRCm39)	T842A	possibly damaging	Het
Spata21	C	A	4: 140,838,675 (GRCm39)		probably null	Het
Stk32a	C	T	18: 43,443,510 (GRCm39)	T229I	possibly damaging	Het
Tent4b	C	T	8: 88,978,886 (GRCm39)	Q63*	probably null	Het
Trim33	C	T	3: 103,237,498 (GRCm39)	P185S	probably benign	Het
Tspoap1	A	G	11: 87,668,647 (GRCm39)		probably null	Het
Vcan	A	G	13: 89,840,438 (GRCm39)	V742A	probably benign	Het
Vrtn	A	T	12: 84,695,837 (GRCm39)	I196F	probably benign	Het
Wasf1	A	T	10: 40,796,293 (GRCm39)	I8F	probably damaging	Het
Ythdc2	A	G	18: 44,980,879 (GRCm39)	I491M	probably damaging	Het
Zfp292	T	C	4: 34,809,775 (GRCm39)	T1095A	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
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
R3405: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

Posted On

2015-08-05