Mutagenetix > Incidental Mutation

Incidental Mutation 'BB003:Lcor'

642242

Institutional Source

Beutler Lab

Gene Symbol

Lcor

Ensembl Gene

ENSMUSG00000025019

Gene Name

ligand dependent nuclear receptor corepressor

Synonyms

LOC381224, A630025C20Rik, Gm340, 3110023F06Rik, Mlr2

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

BB003

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41471076-41574975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41571008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 67 (F67S)

Ref Sequence

ENSEMBL: ENSMUSP00000128083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172371]

AlphaFold

Q6ZPI3

Predicted Effect

probably benign
Transcript: ENSMUST00000172371
AA Change: F67S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: F67S

Domain	Start	End	E-Value	Type
low complexity region	10	17	N/A	INTRINSIC
low complexity region	438	450	N/A	INTRINSIC
low complexity region	710	724	N/A	INTRINSIC
low complexity region	768	779	N/A	INTRINSIC
Pfam:DUF4553	787	1241	9.7e-179	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
BC016579	C	A	16: 45,449,825 (GRCm39)	D198Y	probably damaging	Het
Cep170	A	G	1: 176,588,979 (GRCm39)	S549P	probably damaging	Het
Cnih3	T	C	1: 181,277,566 (GRCm39)	L96P	probably damaging	Het
Cnn2	T	A	10: 79,829,160 (GRCm39)	L168Q	probably damaging	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Cnot10	A	G	9: 114,446,883 (GRCm39)	C398R	probably damaging	Het
Dcaf4	C	A	12: 83,580,703 (GRCm39)	Y212*	probably null	Het
Dmxl2	T	C	9: 54,335,326 (GRCm39)	T665A	probably benign	Het
Dnmt1	C	A	9: 20,818,855 (GRCm39)	A1609S	unknown	Het
Dzip1	T	C	14: 119,120,911 (GRCm39)	D682G	probably benign	Het
Fam76a	A	G	4: 132,629,405 (GRCm39)	L249P	probably damaging	Het
Fgf10	T	C	13: 118,925,752 (GRCm39)	M177T	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Itln1	G	A	1: 171,359,261 (GRCm39)	T73I	probably benign	Het
Jkamp	T	C	12: 72,141,590 (GRCm39)	Y197H	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lmf2	G	A	15: 89,236,624 (GRCm39)	P514L	probably damaging	Het
Lmntd2	G	T	7: 140,790,258 (GRCm39)	P610Q	probably damaging	Het
Map3k3	T	C	11: 106,036,548 (GRCm39)	S225P	probably damaging	Het
Mbd5	T	C	2: 49,146,335 (GRCm39)	Y182H	probably damaging	Het
Mki67	A	G	7: 135,298,869 (GRCm39)	V2055A	possibly damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myh8	C	T	11: 67,169,732 (GRCm39)	P17L	possibly damaging	Het
Myt1l	T	A	12: 29,861,651 (GRCm39)	D144E	unknown	Het
Nfatc1	T	C	18: 80,740,881 (GRCm39)	Y373C	probably damaging	Het
Pacs2	C	T	12: 113,024,372 (GRCm39)	L418F	probably damaging	Het
Paxip1	A	G	5: 27,996,207 (GRCm39)	I24T	unknown	Het
Pdcl	C	T	2: 37,242,249 (GRCm39)	G167E	probably damaging	Het
Pdcl	A	C	2: 37,242,251 (GRCm39)	S166R	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Qsox1	C	T	1: 155,688,533 (GRCm39)	G5S	unknown	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Sass6	T	A	3: 116,422,419 (GRCm39)	S641T	possibly damaging	Het
Six1	T	C	12: 73,090,583 (GRCm39)	N194S	probably benign	Het
Tagap	T	C	17: 8,145,770 (GRCm39)		probably null	Het
Tiparp	T	C	3: 65,460,946 (GRCm39)	V645A	possibly damaging	Het
Tm2d2	T	C	8: 25,510,480 (GRCm39)	V113A	probably damaging	Het
Tmprss6	C	A	15: 78,337,050 (GRCm39)	R352L	probably benign	Het
Tslp	A	G	18: 32,950,246 (GRCm39)	E105G	possibly damaging	Het
Ttc41	A	G	10: 86,611,911 (GRCm39)	E1093G	probably benign	Het
Ush2a	G	A	1: 188,460,797 (GRCm39)	R2686H	probably benign	Het
Usp54	A	T	14: 20,627,036 (GRCm39)	Y541N	probably damaging	Het

Other mutations in Lcor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Lcor	APN	19	41,541,139 (GRCm39)	missense	probably damaging	0.97
IGL02079:Lcor	APN	19	41,544,126 (GRCm39)	missense	probably benign	0.40
IGL02100:Lcor	APN	19	41,547,193 (GRCm39)	missense	possibly damaging	0.93
IGL02444:Lcor	APN	19	41,547,450 (GRCm39)	missense	probably damaging	0.99
IGL02578:Lcor	APN	19	41,547,589 (GRCm39)	missense	probably damaging	1.00
IGL03072:Lcor	APN	19	41,547,253 (GRCm39)	missense	possibly damaging	0.85
IGL03118:Lcor	APN	19	41,546,808 (GRCm39)	missense	probably damaging	0.99
IGL03153:Lcor	APN	19	41,546,795 (GRCm39)	missense	probably damaging	0.98
BB013:Lcor	UTSW	19	41,571,008 (GRCm39)	missense	probably benign
R0006:Lcor	UTSW	19	41,573,338 (GRCm39)	missense	probably benign	0.00
R0686:Lcor	UTSW	19	41,570,811 (GRCm39)	missense	possibly damaging	0.73
R1104:Lcor	UTSW	19	41,574,502 (GRCm39)	missense	probably damaging	0.99
R1278:Lcor	UTSW	19	41,573,122 (GRCm39)	missense	probably benign	0.07
R1606:Lcor	UTSW	19	41,573,513 (GRCm39)	missense	probably benign	0.35
R1756:Lcor	UTSW	19	41,547,705 (GRCm39)	missense	probably benign
R1833:Lcor	UTSW	19	41,573,387 (GRCm39)	missense	probably benign	0.00
R1889:Lcor	UTSW	19	41,547,567 (GRCm39)	missense	probably damaging	0.99
R1905:Lcor	UTSW	19	41,572,013 (GRCm39)	missense	possibly damaging	0.73
R1913:Lcor	UTSW	19	41,546,913 (GRCm39)	missense	probably benign	0.40
R1983:Lcor	UTSW	19	41,546,806 (GRCm39)	missense	probably damaging	0.98
R2697:Lcor	UTSW	19	41,572,466 (GRCm39)	missense	probably benign	0.43
R2881:Lcor	UTSW	19	41,571,488 (GRCm39)	missense	probably damaging	1.00
R3885:Lcor	UTSW	19	41,546,795 (GRCm39)	missense	probably damaging	0.98
R3886:Lcor	UTSW	19	41,546,795 (GRCm39)	missense	probably damaging	0.98
R3888:Lcor	UTSW	19	41,546,795 (GRCm39)	missense	probably damaging	0.98
R3889:Lcor	UTSW	19	41,546,795 (GRCm39)	missense	probably damaging	0.98
R4720:Lcor	UTSW	19	41,574,334 (GRCm39)	missense	probably benign	0.04
R4864:Lcor	UTSW	19	41,573,803 (GRCm39)	missense	probably benign
R4908:Lcor	UTSW	19	41,572,601 (GRCm39)	missense	probably benign	0.00
R5160:Lcor	UTSW	19	41,544,053 (GRCm39)	missense	probably damaging	0.99
R5193:Lcor	UTSW	19	41,570,969 (GRCm39)	missense	probably damaging	1.00
R5215:Lcor	UTSW	19	41,574,371 (GRCm39)	missense	probably damaging	1.00
R5276:Lcor	UTSW	19	41,573,478 (GRCm39)	missense	probably damaging	0.98
R5319:Lcor	UTSW	19	41,574,791 (GRCm39)	missense	probably damaging	0.99
R5321:Lcor	UTSW	19	41,573,643 (GRCm39)	missense	probably damaging	1.00
R5432:Lcor	UTSW	19	41,573,042 (GRCm39)	missense	probably damaging	1.00
R5605:Lcor	UTSW	19	41,571,302 (GRCm39)	missense	probably damaging	1.00
R5941:Lcor	UTSW	19	41,574,839 (GRCm39)	missense	probably damaging	1.00
R6020:Lcor	UTSW	19	41,571,986 (GRCm39)	missense	possibly damaging	0.88
R6024:Lcor	UTSW	19	41,572,396 (GRCm39)	missense	possibly damaging	0.84
R6112:Lcor	UTSW	19	41,547,520 (GRCm39)	missense	possibly damaging	0.92
R6149:Lcor	UTSW	19	41,573,641 (GRCm39)	missense	probably damaging	1.00
R6260:Lcor	UTSW	19	41,570,810 (GRCm39)	missense	possibly damaging	0.73
R6260:Lcor	UTSW	19	41,570,809 (GRCm39)	missense	probably null	0.91
R6476:Lcor	UTSW	19	41,571,518 (GRCm39)	missense	probably benign	0.04
R7051:Lcor	UTSW	19	41,574,191 (GRCm39)	missense	probably benign	0.05
R7285:Lcor	UTSW	19	41,572,754 (GRCm39)	missense	possibly damaging	0.91
R7372:Lcor	UTSW	19	41,573,945 (GRCm39)	missense	probably damaging	1.00
R7762:Lcor	UTSW	19	41,572,106 (GRCm39)	missense	probably benign	0.02
R7777:Lcor	UTSW	19	41,547,234 (GRCm39)	missense	probably benign	0.33
R7833:Lcor	UTSW	19	41,573,024 (GRCm39)	missense	probably benign	0.02
R7926:Lcor	UTSW	19	41,571,008 (GRCm39)	missense	probably benign
R8164:Lcor	UTSW	19	41,573,849 (GRCm39)	missense	probably damaging	1.00
R8319:Lcor	UTSW	19	41,571,343 (GRCm39)	missense	probably damaging	1.00
R8323:Lcor	UTSW	19	41,572,036 (GRCm39)	missense	probably benign	0.01
R8327:Lcor	UTSW	19	41,570,996 (GRCm39)	missense	probably damaging	1.00
R8423:Lcor	UTSW	19	41,573,888 (GRCm39)	missense	possibly damaging	0.95
R8556:Lcor	UTSW	19	41,546,863 (GRCm39)	frame shift	probably null
R8780:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R8781:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R8788:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R8798:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R9013:Lcor	UTSW	19	41,573,189 (GRCm39)	missense	probably damaging	1.00
R9035:Lcor	UTSW	19	41,573,399 (GRCm39)	missense	probably benign	0.00
R9065:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R9067:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R9083:Lcor	UTSW	19	41,574,839 (GRCm39)	missense	probably damaging	0.99
R9105:Lcor	UTSW	19	41,573,311 (GRCm39)	missense	possibly damaging	0.88
R9487:Lcor	UTSW	19	41,573,685 (GRCm39)	missense	probably damaging	1.00
R9573:Lcor	UTSW	19	41,573,471 (GRCm39)	missense	probably damaging	1.00
R9704:Lcor	UTSW	19	41,572,498 (GRCm39)	missense	possibly damaging	0.61
X0013:Lcor	UTSW	19	41,572,971 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCAAAGTCTGGCTGCAGTG -3'
(R):5'- GATGGAGGCTGACATCATCTTGG -3'

Sequencing Primer
(F):5'- TCTGGCTGCAGTGGAAGAG -3'
(R):5'- ACCATTGGATGCTCTGTGTACAG -3'

Posted On

2020-08-01