Incidental Mutation 'R8423:Lcor'
| ID |
653331 |
| 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 |
067899-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R8423 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41471076-41574975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41573888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 881
(I881T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
| AlphaFold |
Q6ZPI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172371
AA Change: I881T
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: I881T
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (46/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
G |
12: 113,454,530 (GRCm39) |
D449G |
possibly damaging |
Het |
| Ampd1 |
T |
C |
3: 102,988,305 (GRCm39) |
S83P |
probably benign |
Het |
| Bub1 |
G |
A |
2: 127,649,750 (GRCm39) |
L703F |
probably benign |
Het |
| C1rb |
T |
A |
6: 124,551,617 (GRCm39) |
D242E |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,189,752 (GRCm39) |
L659Q |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,736,522 (GRCm39) |
N662S |
probably damaging |
Het |
| Ccno |
A |
G |
13: 113,124,678 (GRCm39) |
S83G |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,245,252 (GRCm39) |
Y1155* |
probably null |
Het |
| Clec16a |
A |
G |
16: 10,394,527 (GRCm39) |
E295G |
probably benign |
Het |
| Clnk |
A |
G |
5: 38,952,253 (GRCm39) |
|
probably null |
Het |
| Clvs2 |
T |
C |
10: 33,498,855 (GRCm39) |
D25G |
possibly damaging |
Het |
| Cnr2 |
C |
T |
4: 135,644,827 (GRCm39) |
R302W |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,640,498 (GRCm39) |
T594A |
probably damaging |
Het |
| Dclk3 |
C |
T |
9: 111,297,787 (GRCm39) |
R444W |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,998,183 (GRCm39) |
V761A |
probably damaging |
Het |
| Dnah7a |
C |
A |
1: 53,512,063 (GRCm39) |
K2999N |
possibly damaging |
Het |
| Dusp28 |
T |
C |
1: 92,834,906 (GRCm39) |
S44P |
probably damaging |
Het |
| Enpep |
T |
G |
3: 129,102,774 (GRCm39) |
N394T |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,060,998 (GRCm39) |
F1343I |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,790,947 (GRCm39) |
H54Q |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,744,111 (GRCm39) |
D315G |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,267,800 (GRCm39) |
D482V |
probably damaging |
Het |
| Gm17175 |
T |
A |
14: 51,809,070 (GRCm39) |
I99F |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,027,104 (GRCm39) |
F51S |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,415,442 (GRCm39) |
S4806P |
probably damaging |
Het |
| Hoxc11 |
G |
A |
15: 102,863,177 (GRCm39) |
V73I |
possibly damaging |
Het |
| Knl1 |
T |
G |
2: 118,900,513 (GRCm39) |
I738S |
probably damaging |
Het |
| Lipt2 |
T |
C |
7: 99,809,450 (GRCm39) |
F179S |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,628,622 (GRCm39) |
V323M |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,852 (GRCm39) |
S665P |
probably benign |
Het |
| Miga1 |
A |
T |
3: 152,028,045 (GRCm39) |
D161E |
probably benign |
Het |
| Mynn |
A |
G |
3: 30,657,933 (GRCm39) |
T84A |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,598 (GRCm39) |
S138G |
possibly damaging |
Het |
| Or3a1b |
T |
C |
11: 74,012,492 (GRCm39) |
F126L |
probably benign |
Het |
| Or4a75 |
A |
T |
2: 89,448,331 (GRCm39) |
D68E |
probably damaging |
Het |
| Pik3r3 |
C |
T |
4: 116,079,572 (GRCm39) |
S23L |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ralgapa1 |
A |
G |
12: 55,705,847 (GRCm39) |
S1892P |
probably damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,813,693 (GRCm39) |
Q540L |
probably benign |
Het |
| Tfap2a |
A |
T |
13: 40,872,706 (GRCm39) |
N323K |
possibly damaging |
Het |
| Tgm1 |
A |
T |
14: 55,943,100 (GRCm39) |
M580K |
probably benign |
Het |
| Tnrc6b |
G |
A |
15: 80,813,619 (GRCm39) |
G1792D |
unknown |
Het |
| Trim66 |
T |
A |
7: 109,074,599 (GRCm39) |
Q554L |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Vmn1r238 |
G |
T |
18: 3,123,365 (GRCm39) |
C16* |
probably null |
Het |
| Vmn1r6 |
G |
A |
6: 56,979,495 (GRCm39) |
M52I |
probably benign |
Het |
| Zfp61 |
A |
G |
7: 23,991,459 (GRCm39) |
F231L |
probably benign |
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 |
|
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 |
|
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'- TTGGAGAAGGAAGCTCAGCC -3'
(R):5'- TCAGGATTCTCTCGTAGTTTAGCCC -3'
Sequencing Primer
(F):5'- GGAAGCTCAGCCAACGG -3'
(R):5'- GGAATGGCTCCAGGGAATTTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation