Incidental Mutation 'R6260:Lcor'
ID |
506666 |
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 |
044377-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.468)
|
Stock # |
R6260 (G1)
|
Quality Score |
219.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
41471076-41574975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41570809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 1
(S1C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
AlphaFold |
Q6ZPI3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000172371
AA Change: S1C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128083 Gene: ENSMUSG00000090673 AA Change: S1C
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (77/78) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,844,821 (GRCm39) |
N1514K |
probably damaging |
Het |
Abcb4 |
G |
T |
5: 8,984,219 (GRCm39) |
G650* |
probably null |
Het |
Acsbg1 |
T |
A |
9: 54,535,751 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
T |
6: 85,605,717 (GRCm39) |
K2456* |
probably null |
Het |
Alppl2 |
A |
T |
1: 87,016,184 (GRCm39) |
M225K |
probably damaging |
Het |
Ank2 |
C |
T |
3: 126,737,206 (GRCm39) |
V2806I |
probably benign |
Het |
Atxn10 |
A |
T |
15: 85,346,612 (GRCm39) |
I457F |
probably benign |
Het |
Cad |
G |
T |
5: 31,224,144 (GRCm39) |
M800I |
probably null |
Het |
Carmil3 |
T |
A |
14: 55,737,889 (GRCm39) |
L815Q |
probably damaging |
Het |
Ccz1 |
A |
G |
5: 143,940,859 (GRCm39) |
|
probably null |
Het |
Cdc73 |
G |
A |
1: 143,567,211 (GRCm39) |
T104I |
probably benign |
Het |
Cfap52 |
A |
T |
11: 67,829,780 (GRCm39) |
C330S |
possibly damaging |
Het |
Clec16a |
C |
T |
16: 10,512,712 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
A |
G |
6: 102,254,178 (GRCm39) |
|
probably null |
Het |
Crocc2 |
A |
G |
1: 93,141,360 (GRCm39) |
K1171R |
possibly damaging |
Het |
Ctsa |
T |
C |
2: 164,676,281 (GRCm39) |
V86A |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,242,144 (GRCm39) |
F244L |
probably benign |
Het |
Ddn |
A |
G |
15: 98,703,735 (GRCm39) |
V519A |
possibly damaging |
Het |
Dip2b |
G |
T |
15: 100,060,583 (GRCm39) |
V253L |
probably benign |
Het |
Dnah17 |
C |
A |
11: 118,017,148 (GRCm39) |
W197C |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 118,017,150 (GRCm39) |
W197R |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 118,017,149 (GRCm39) |
W197* |
probably null |
Het |
Ercc6 |
T |
A |
14: 32,279,813 (GRCm39) |
D609E |
probably benign |
Het |
Erg |
C |
A |
16: 95,181,100 (GRCm39) |
R147L |
probably damaging |
Het |
Fbxo41 |
A |
T |
6: 85,455,537 (GRCm39) |
L549H |
probably damaging |
Het |
Foxd4 |
A |
G |
19: 24,876,968 (GRCm39) |
S411P |
probably benign |
Het |
Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
Galntl6 |
T |
A |
8: 58,337,515 (GRCm39) |
D135V |
probably damaging |
Het |
Gm1043 |
G |
C |
5: 37,331,816 (GRCm39) |
G832A |
probably benign |
Het |
Gm21103 |
C |
T |
14: 17,484,841 (GRCm39) |
E68K |
probably damaging |
Het |
Gpam |
A |
G |
19: 55,071,838 (GRCm39) |
V301A |
probably benign |
Het |
H2-M10.1 |
T |
A |
17: 36,634,994 (GRCm39) |
I304F |
unknown |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Jak3 |
C |
A |
8: 72,131,954 (GRCm39) |
Q177K |
probably benign |
Het |
Kcnu1 |
G |
A |
8: 26,341,919 (GRCm39) |
R88H |
probably damaging |
Het |
Kng1 |
A |
T |
16: 22,877,371 (GRCm39) |
I60F |
possibly damaging |
Het |
Krt77 |
A |
T |
15: 101,772,807 (GRCm39) |
Y257* |
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Map4k5 |
C |
A |
12: 69,878,336 (GRCm39) |
R355L |
probably benign |
Het |
Mefv |
C |
T |
16: 3,530,898 (GRCm39) |
R498H |
probably benign |
Het |
Mical3 |
A |
T |
6: 120,985,991 (GRCm39) |
L150Q |
probably damaging |
Het |
Mtcl1 |
T |
A |
17: 66,650,536 (GRCm39) |
Q1340L |
probably damaging |
Het |
Nfic |
A |
T |
10: 81,256,351 (GRCm39) |
C126* |
probably null |
Het |
Nisch |
T |
A |
14: 30,899,085 (GRCm39) |
|
probably benign |
Het |
Nt5dc3 |
A |
G |
10: 86,647,395 (GRCm39) |
Y130C |
probably damaging |
Het |
Or2ag1b |
A |
T |
7: 106,288,079 (GRCm39) |
N286K |
probably damaging |
Het |
Or4f15 |
C |
T |
2: 111,814,396 (GRCm39) |
V8I |
probably benign |
Het |
Or6c65 |
C |
A |
10: 129,603,389 (GRCm39) |
T8K |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,569,892 (GRCm39) |
V346A |
probably benign |
Het |
Pla2g4a |
A |
G |
1: 149,733,238 (GRCm39) |
S504P |
probably benign |
Het |
Plin2 |
G |
T |
4: 86,575,526 (GRCm39) |
A341D |
probably damaging |
Het |
Plxnb2 |
A |
T |
15: 89,049,494 (GRCm39) |
I575N |
probably benign |
Het |
Pnma8b |
T |
G |
7: 16,680,158 (GRCm39) |
W381G |
probably benign |
Het |
Psma8 |
A |
G |
18: 14,854,324 (GRCm39) |
D68G |
probably damaging |
Het |
Rcor3 |
G |
A |
1: 191,808,559 (GRCm39) |
H207Y |
probably benign |
Het |
Rwdd2b |
C |
A |
16: 87,231,356 (GRCm39) |
G266V |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,490,449 (GRCm39) |
F3795S |
probably damaging |
Het |
Slc28a2b |
A |
T |
2: 122,353,963 (GRCm39) |
I530F |
probably damaging |
Het |
Sord |
T |
A |
2: 122,089,613 (GRCm39) |
|
probably null |
Het |
Spdl1 |
T |
A |
11: 34,710,713 (GRCm39) |
N345I |
probably damaging |
Het |
St8sia2 |
T |
A |
7: 73,626,441 (GRCm39) |
R42S |
possibly damaging |
Het |
Syt9 |
G |
T |
7: 107,035,717 (GRCm39) |
V245F |
possibly damaging |
Het |
Tbpl2 |
T |
A |
2: 23,984,898 (GRCm39) |
N82I |
possibly damaging |
Het |
Tcerg1 |
T |
A |
18: 42,686,530 (GRCm39) |
Y696N |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,595,655 (GRCm39) |
T492A |
probably benign |
Het |
Timm13 |
A |
C |
10: 80,736,135 (GRCm39) |
|
probably benign |
Het |
Trdmt1 |
T |
A |
2: 13,524,870 (GRCm39) |
Q195L |
probably benign |
Het |
Ttc27 |
T |
A |
17: 75,165,086 (GRCm39) |
V764D |
probably damaging |
Het |
Ttc39d |
C |
A |
17: 80,524,076 (GRCm39) |
S245* |
probably null |
Het |
Ttc41 |
A |
G |
10: 86,567,023 (GRCm39) |
E563G |
probably benign |
Het |
Ttc41 |
A |
T |
10: 86,569,571 (GRCm39) |
T650S |
probably benign |
Het |
U2surp |
A |
C |
9: 95,358,210 (GRCm39) |
L723R |
probably damaging |
Het |
Ubqln3 |
G |
A |
7: 103,791,524 (GRCm39) |
Q189* |
probably null |
Het |
Vezf1 |
A |
G |
11: 87,972,326 (GRCm39) |
N229S |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,686,365 (GRCm39) |
M582K |
probably benign |
Het |
Zfp518a |
A |
G |
19: 40,902,567 (GRCm39) |
D832G |
probably benign |
Het |
Zfyve28 |
T |
C |
5: 34,356,216 (GRCm39) |
N762D |
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 |
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 |
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 |
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'- TTCCTCTGAACCTCCAGACG -3'
(R):5'- GTCTCTAAATCCTGGTGGAAGG -3'
Sequencing Primer
(F):5'- TCTGAACCTCCAGACGCTCAG -3'
(R):5'- TGAGCTAGACTGTAAAGCATTCTC -3'
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Posted On |
2018-03-15 |