Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03153:Lcor'

411157

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 non essential (E-score: 0.236) question?

Stock #

IGL03153

Quality Score

Status

Chromosome

Chromosomal Location

41482645-41562246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41558356 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 126 (S126R)

Ref Sequence

ENSEMBL: ENSMUSP00000126441 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000067795
AA Change: S126R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067603
Gene: ENSMUSG00000025019
AA Change: S126R

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: S126R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126441
Gene: ENSMUSG00000025019
AA Change: S126R

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

Meta Mutation Damage Score

0.0834

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	G	4: 62,547,326	E419G	possibly damaging	Het
Abcg3	A	G	5: 104,974,765		probably benign	Het
Adam17	T	C	12: 21,345,697	D256G	probably damaging	Het
Adgrb3	G	A	1: 25,531,897	R500*	probably null	Het
Aldh3a2	A	G	11: 61,258,839	Y234H	probably damaging	Het
Alpk3	A	G	7: 81,093,395	T987A	probably benign	Het
Amtn	A	G	5: 88,384,969	K148E	possibly damaging	Het
Asap1	G	A	15: 64,160,274	T237M	probably damaging	Het
Ccdc124	A	T	8: 70,868,929		probably null	Het
Cdon	T	C	9: 35,477,959	Y787H	probably damaging	Het
Coro7	A	G	16: 4,635,382		probably null	Het
Dram2	T	A	3: 106,555,174		probably benign	Het
Drd5	T	C	5: 38,319,781	V39A	probably benign	Het
Ern1	A	G	11: 106,410,098	L490P	possibly damaging	Het
Fat1	A	G	8: 45,030,123	T3083A	possibly damaging	Het
Irgm1	A	G	11: 48,866,267	I239T	probably damaging	Het
Klhl10	A	T	11: 100,456,932	T605S	probably benign	Het
Lgi4	G	T	7: 31,060,558	V60F	probably damaging	Het
Lin37	G	A	7: 30,557,160	R84W	probably damaging	Het
Lmf1	A	G	17: 25,585,650	S97G	possibly damaging	Het
Oasl2	A	G	5: 114,901,332	T194A	probably benign	Het
Olfr199	A	G	16: 59,216,203	S137P	probably benign	Het
Pnpo	A	T	11: 96,943,835	F12I	probably damaging	Het
Prdm4	T	C	10: 85,907,996	T132A	probably benign	Het
Ptbp2	T	C	3: 119,751,944	T118A	probably benign	Het
Ptf1a	T	A	2: 19,446,645		probably benign	Het
Rev3l	T	A	10: 39,806,878	F331I	probably damaging	Het
Rfx6	C	A	10: 51,723,121	S524*	probably null	Het
Scube3	A	G	17: 28,167,058	S758G	possibly damaging	Het
Slc44a2	T	C	9: 21,343,200	I257T	probably benign	Het
Spon1	A	T	7: 114,030,344	I408F	probably damaging	Het
Srpk1	C	A	17: 28,592,266	D541Y	possibly damaging	Het
Tenm4	A	T	7: 96,873,762	I1467F	probably damaging	Het
Tex33	T	C	15: 78,385,316	D188G	probably damaging	Het
Uggt1	A	C	1: 36,202,818	V345G	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,932	I287K	probably damaging	Het
Whamm	A	G	7: 81,589,532		probably benign	Het
Zeb1	A	G	18: 5,770,511	D888G	probably damaging	Het
Zfp263	A	G	16: 3,746,880	N253S	possibly damaging	Het
Zfp446	C	A	7: 12,977,907	A19E	probably benign	Het

Other mutations in Lcor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Lcor	APN	19	41552700	missense	probably damaging	0.97
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
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

2016-08-02