Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00737:Lcor'

11736

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lcor

Ensembl Gene

ENSMUSG00000025019

Gene Name

ligand dependent nuclear receptor corepressor

Synonyms

A630025C20Rik, Mlr2, 3110023F06Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.849) question?

Stock #

IGL00737

Quality Score

Status

Chromosome

Chromosomal Location

41482645-41562246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41552700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 68 (T68A)

Ref Sequence

ENSEMBL: ENSMUSP00000126441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067795] [ENSMUST00000163929]

AlphaFold

Q6ZPI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000067795
AA Change: T68A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000067603
Gene: ENSMUSG00000025019
AA Change: T68A

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
Pfam:HTH_psq	350	395	1.2e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163929
AA Change: T68A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126441
Gene: ENSMUSG00000025019
AA Change: T68A

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
Pfam:HTH_psq	350	395	5.1e-18	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,196,997		probably benign	Het
AI597479	T	G	1: 43,100,858	H81Q	probably benign	Het
Alcam	A	T	16: 52,253,180	L561Q	unknown	Het
Cd8a	T	C	6: 71,373,707	V52A	probably benign	Het
Cpsf2	T	C	12: 101,983,466	V119A	probably damaging	Het
Cry1	T	C	10: 85,143,040	N541D	probably benign	Het
Dock8	A	G	19: 25,182,976	T1748A	probably benign	Het
Kifap3	A	T	1: 163,797,270	I132F	probably damaging	Het
Lpcat2	A	G	8: 92,909,206	D372G	probably damaging	Het
Mb21d1	G	A	9: 78,435,488	P344L	probably damaging	Het
Mrpl30	G	A	1: 37,895,376	R33H	probably benign	Het
Ncstn	A	G	1: 172,074,401	Y151H	probably benign	Het
Parp4	A	G	14: 56,584,163	T2A	probably damaging	Het
Plxna2	G	A	1: 194,746,239		probably benign	Het
Pum2	A	G	12: 8,733,381	Y610C	probably damaging	Het
Rabl6	T	C	2: 25,584,120		probably benign	Het
Wdr33	T	A	18: 31,878,116	W273R	probably damaging	Het
Wdr59	T	C	8: 111,458,736	N855S	probably damaging	Het
Wipi2	T	A	5: 142,666,870	D412E	probably benign	Het
Zfp28	T	C	7: 6,393,430	*56Q	probably null	Het
Zfyve16	T	A	13: 92,521,118	K762*	probably null	Het

Other mutations in Lcor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02079:Lcor	APN	19	41555687	missense	probably benign	0.40
IGL02100:Lcor	APN	19	41558754	missense	possibly damaging	0.93
IGL02444:Lcor	APN	19	41559011	missense	probably damaging	0.99
IGL02578:Lcor	APN	19	41559150	missense	probably damaging	1.00
IGL03072:Lcor	APN	19	41558814	missense	possibly damaging	0.85
IGL03118:Lcor	APN	19	41558369	missense	probably damaging	0.99
IGL03153:Lcor	APN	19	41558356	missense	probably damaging	0.98
R1756:Lcor	UTSW	19	41559266	missense	probably benign
R1889:Lcor	UTSW	19	41559128	missense	probably damaging	0.99
R1913:Lcor	UTSW	19	41558474	missense	probably benign	0.40
R1983:Lcor	UTSW	19	41558367	missense	probably damaging	0.98
R3885:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R3886:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R3888:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R3889:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R5160:Lcor	UTSW	19	41555614	missense	probably damaging	0.99
R6112:Lcor	UTSW	19	41559081	missense	possibly damaging	0.92
R7777:Lcor	UTSW	19	41558795	missense	probably benign	0.33
R8556:Lcor	UTSW	19	41558424	frame shift	probably null

Posted On

2012-12-06