Incidental Mutation 'R5432:Lcor'
ID |
428127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lcor
|
Ensembl Gene |
ENSMUSG00000025019 |
Gene Name |
ligand dependent nuclear receptor corepressor |
Synonyms |
LOC381224, A630025C20Rik, Gm340, 3110023F06Rik, Mlr2 |
MMRRC Submission |
042997-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.560)
|
Stock # |
R5432 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
41471076-41574975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41573042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 599
(E599G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
AlphaFold |
Q6ZPI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172371
AA Change: E599G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128083 Gene: ENSMUSG00000090673 AA Change: E599G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183602
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdhppt |
G |
A |
9: 4,309,349 (GRCm39) |
R30* |
probably null |
Het |
Abca9 |
G |
A |
11: 110,032,380 (GRCm39) |
R746W |
possibly damaging |
Het |
Akap13 |
A |
G |
7: 75,252,578 (GRCm39) |
E236G |
probably damaging |
Het |
Asb4 |
A |
C |
6: 5,430,912 (GRCm39) |
R382S |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,178,814 (GRCm39) |
S2458P |
probably benign |
Het |
Bspry |
T |
C |
4: 62,400,952 (GRCm39) |
V148A |
probably benign |
Het |
Cacna2d3 |
A |
C |
14: 28,665,512 (GRCm39) |
|
probably null |
Het |
Cblb |
T |
A |
16: 51,963,228 (GRCm39) |
H390Q |
probably damaging |
Het |
Cct8l1 |
T |
C |
5: 25,721,305 (GRCm39) |
S7P |
possibly damaging |
Het |
Cep295 |
T |
C |
9: 15,262,991 (GRCm39) |
T191A |
possibly damaging |
Het |
Cts8 |
A |
C |
13: 61,398,826 (GRCm39) |
F227V |
probably benign |
Het |
Elac1 |
T |
C |
18: 73,875,864 (GRCm39) |
T56A |
possibly damaging |
Het |
Fjx1 |
T |
C |
2: 102,280,864 (GRCm39) |
N357S |
possibly damaging |
Het |
Gm5414 |
T |
C |
15: 101,533,069 (GRCm39) |
T453A |
probably damaging |
Het |
Hcls1 |
G |
A |
16: 36,781,910 (GRCm39) |
E340K |
probably benign |
Het |
Hrc |
C |
A |
7: 44,986,285 (GRCm39) |
H479N |
possibly damaging |
Het |
Ikzf4 |
A |
G |
10: 128,470,047 (GRCm39) |
V491A |
probably damaging |
Het |
Kalrn |
A |
G |
16: 33,873,992 (GRCm39) |
S138P |
probably damaging |
Het |
Lama3 |
G |
T |
18: 12,705,123 (GRCm39) |
D3062Y |
probably damaging |
Het |
Llgl1 |
T |
C |
11: 60,598,449 (GRCm39) |
S442P |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,353,129 (GRCm39) |
K1517* |
probably null |
Het |
Myo9a |
A |
T |
9: 59,772,953 (GRCm39) |
Y995F |
possibly damaging |
Het |
Nek3 |
A |
C |
8: 22,638,748 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
G |
14: 56,101,923 (GRCm39) |
T531A |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2m12 |
A |
T |
16: 19,104,839 (GRCm39) |
I218N |
probably benign |
Het |
Pdia4 |
A |
G |
6: 47,775,400 (GRCm39) |
V470A |
possibly damaging |
Het |
Pinlyp |
T |
C |
7: 24,241,892 (GRCm39) |
D105G |
probably damaging |
Het |
Pla2g6 |
A |
G |
15: 79,186,817 (GRCm39) |
|
probably null |
Het |
Plpp7 |
A |
G |
2: 31,985,932 (GRCm39) |
S37G |
probably benign |
Het |
Prdm11 |
G |
T |
2: 92,806,158 (GRCm39) |
P264Q |
probably benign |
Het |
Rbl2 |
G |
T |
8: 91,828,911 (GRCm39) |
R604L |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,500,584 (GRCm39) |
T115A |
probably benign |
Het |
Samd4 |
A |
G |
14: 47,311,519 (GRCm39) |
Q279R |
probably benign |
Het |
Sdha |
G |
T |
13: 74,475,068 (GRCm39) |
A591D |
probably damaging |
Het |
Secisbp2 |
AAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCA |
13: 51,828,002 (GRCm39) |
|
probably benign |
Het |
Sephs2 |
G |
A |
7: 126,872,977 (GRCm39) |
R39W |
probably damaging |
Het |
Serpina3f |
T |
C |
12: 104,186,577 (GRCm39) |
I381T |
possibly damaging |
Het |
Shd |
A |
T |
17: 56,283,214 (GRCm39) |
Q281L |
probably damaging |
Het |
Sik3 |
A |
G |
9: 46,034,539 (GRCm39) |
S98G |
probably benign |
Het |
Srgap1 |
T |
A |
10: 121,705,728 (GRCm39) |
N232I |
probably damaging |
Het |
Thbs1 |
A |
T |
2: 117,945,164 (GRCm39) |
N246Y |
probably benign |
Het |
Usp9y |
A |
G |
Y: 1,368,022 (GRCm39) |
|
probably null |
Het |
Vwde |
A |
G |
6: 13,190,591 (GRCm39) |
M500T |
probably damaging |
Het |
Wdr72 |
T |
G |
9: 74,183,228 (GRCm39) |
S1053R |
probably damaging |
Het |
Yif1b |
T |
C |
7: 28,945,393 (GRCm39) |
C192R |
probably damaging |
Het |
Zc3h13 |
A |
G |
14: 75,568,687 (GRCm39) |
S1327G |
probably damaging |
Het |
Zfp1004 |
A |
G |
2: 150,033,901 (GRCm39) |
N74S |
possibly 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 |
BB003:Lcor
|
UTSW |
19 |
41,571,008 (GRCm39) |
missense |
probably benign |
|
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 |
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'- CGCTGCTTGCTCTGAAATC -3'
(R):5'- CTCTGGATCCCTCTTGCAAG -3'
Sequencing Primer
(F):5'- GCTTGCTCTGAAATCAAGGTTTC -3'
(R):5'- CTGGATCCCTCTTGCAAGGAATG -3'
|
Posted On |
2016-09-01 |