Incidental Mutation 'IGL03153:Lcor'
ID411157
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcor
Ensembl Gene ENSMUSG00000025019
Gene Nameligand dependent nuclear receptor corepressor
SynonymsA630025C20Rik, Mlr2, 3110023F06Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.390) question?
Stock #IGL03153
Quality Score
Status
Chromosome19
Chromosomal Location41482645-41562246 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 41558356 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
Pfam:HTH_psq 350 395 5.1e-18 PFAM
Meta Mutation Damage Score 0.076 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Posted On2016-08-02