Incidental Mutation 'R6864:Lcorl'
| ID |
535798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcorl
|
| Ensembl Gene |
ENSMUSG00000015882 |
| Gene Name |
ligand dependent nuclear receptor corepressor-like |
| Synonyms |
A830039H10Rik, Mlr1 |
| MMRRC Submission |
044964-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R6864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
45854523-46014957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45904546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 177
(K177N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016026]
[ENSMUST00000045586]
[ENSMUST00000087164]
[ENSMUST00000121573]
[ENSMUST00000189859]
[ENSMUST00000190036]
|
| AlphaFold |
Q3U285 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016026
AA Change: K177N
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000016026
Gene: ENSMUSG00000015882
AA Change: K177N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
234 |
253 |
N/A |
INTRINSIC |
|
Pfam:HTH_psq
|
276 |
313 |
5.1e-9 |
PFAM |
|
Pfam:HTH_psq
|
525 |
570 |
1.9e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045586
AA Change: K177N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042677
Gene: ENSMUSG00000015882
AA Change: K177N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
234 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087164
AA Change: K94N
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000084408
Gene: ENSMUSG00000015882
AA Change: K94N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
|
Pfam:HTH_psq
|
193 |
230 |
3.4e-7 |
PFAM |
|
Pfam:HTH_psq
|
442 |
487 |
9.4e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121573
AA Change: K94N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112416
Gene: ENSMUSG00000015882
AA Change: K94N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189859
|
| SMART Domains |
Protein: ENSMUSP00000139996
Gene: ENSMUSG00000015882
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C2H2
|
16 |
38 |
1e-5 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190036
AA Change: K167N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
C |
T |
17: 57,785,879 (GRCm39) |
T875I |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,293,545 (GRCm39) |
S33T |
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,877,011 (GRCm39) |
T541A |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,917,557 (GRCm39) |
R334W |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,741,612 (GRCm39) |
V940D |
probably damaging |
Het |
| Bcl2 |
A |
T |
1: 106,471,011 (GRCm39) |
Y232N |
probably damaging |
Het |
| Bmp7 |
A |
G |
2: 172,781,855 (GRCm39) |
V3A |
probably benign |
Het |
| Calr |
A |
T |
8: 85,571,557 (GRCm39) |
H145Q |
probably damaging |
Het |
| Camta2 |
T |
A |
11: 70,562,792 (GRCm39) |
T976S |
probably benign |
Het |
| Ccnk |
G |
A |
12: 108,168,473 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
C |
4: 85,015,029 (GRCm39) |
S1107P |
probably damaging |
Het |
| Cradd |
T |
C |
10: 95,011,789 (GRCm39) |
D117G |
probably damaging |
Het |
| Dcaf7 |
C |
T |
11: 105,937,647 (GRCm39) |
T90I |
probably damaging |
Het |
| Defb30 |
T |
A |
14: 63,273,552 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
A |
12: 40,795,745 (GRCm39) |
I854N |
probably damaging |
Het |
| Dym |
T |
A |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
| Eef1a2 |
T |
C |
2: 180,791,477 (GRCm39) |
T341A |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,930,206 (GRCm39) |
V309A |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,905,640 (GRCm38) |
P1130L |
possibly damaging |
Het |
| Hivep3 |
C |
A |
4: 119,952,085 (GRCm39) |
Q134K |
possibly damaging |
Het |
| Kbtbd2 |
T |
A |
6: 56,757,011 (GRCm39) |
K242* |
probably null |
Het |
| Kel |
A |
G |
6: 41,680,694 (GRCm39) |
|
probably null |
Het |
| Mbd3l2 |
A |
G |
9: 18,354,795 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,343,313 (GRCm39) |
D1735G |
probably damaging |
Het |
| Ms4a1 |
C |
A |
19: 11,230,542 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mylk |
C |
A |
16: 34,694,520 (GRCm39) |
P193Q |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
| Or2y16 |
G |
T |
11: 49,334,767 (GRCm39) |
A30S |
probably benign |
Het |
| Or2y17 |
A |
T |
11: 49,231,580 (GRCm39) |
T74S |
probably damaging |
Het |
| Or4d10b |
A |
T |
19: 12,036,777 (GRCm39) |
F113Y |
probably damaging |
Het |
| Or4f52 |
C |
T |
2: 111,061,542 (GRCm39) |
V199I |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,663,667 (GRCm39) |
S968N |
probably damaging |
Het |
| Oxr1 |
T |
G |
15: 41,686,783 (GRCm39) |
V555G |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,715,761 (GRCm39) |
Y103C |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,451,133 (GRCm39) |
Y204C |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,806,391 (GRCm39) |
E546G |
probably damaging |
Het |
| Prss12 |
C |
A |
3: 123,241,033 (GRCm39) |
H76N |
probably benign |
Het |
| Rai14 |
G |
T |
15: 10,633,254 (GRCm39) |
S45R |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,750 (GRCm39) |
D837V |
probably benign |
Het |
| Slc22a6 |
G |
T |
19: 8,595,805 (GRCm39) |
C49F |
probably damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,775,874 (GRCm39) |
I328N |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,556,310 (GRCm39) |
I148V |
possibly damaging |
Het |
| Stk32b |
A |
T |
5: 37,606,149 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,183,115 (GRCm39) |
F525I |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,964,991 (GRCm39) |
I183T |
probably damaging |
Het |
| Tmem175 |
A |
C |
5: 108,793,845 (GRCm39) |
H325P |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,443,196 (GRCm39) |
V389A |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,809,011 (GRCm39) |
|
probably null |
Het |
| Trim28 |
T |
A |
7: 12,763,385 (GRCm39) |
F509I |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,713 (GRCm39) |
Q191L |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,756,117 (GRCm39) |
D63V |
possibly damaging |
Het |
| Zfp536 |
A |
G |
7: 37,267,940 (GRCm39) |
L492P |
probably damaging |
Het |
| Zfp831 |
C |
A |
2: 174,488,533 (GRCm39) |
N1069K |
possibly damaging |
Het |
| Zfp943 |
T |
A |
17: 22,211,593 (GRCm39) |
H226Q |
probably damaging |
Het |
|
| Other mutations in Lcorl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Lcorl
|
APN |
5 |
45,904,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01611:Lcorl
|
APN |
5 |
45,904,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03014:Lcorl
|
UTSW |
5 |
45,931,371 (GRCm39) |
intron |
probably benign |
|
|
R0070:Lcorl
|
UTSW |
5 |
45,891,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Lcorl
|
UTSW |
5 |
45,891,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Lcorl
|
UTSW |
5 |
45,891,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1518:Lcorl
|
UTSW |
5 |
45,891,543 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1817:Lcorl
|
UTSW |
5 |
45,952,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Lcorl
|
UTSW |
5 |
45,932,762 (GRCm39) |
missense |
probably null |
0.16 |
|
R2171:Lcorl
|
UTSW |
5 |
45,904,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3737:Lcorl
|
UTSW |
5 |
45,891,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3738:Lcorl
|
UTSW |
5 |
45,891,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3739:Lcorl
|
UTSW |
5 |
45,891,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3825:Lcorl
|
UTSW |
5 |
45,932,729 (GRCm39) |
splice site |
probably benign |
|
|
R4035:Lcorl
|
UTSW |
5 |
45,891,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4199:Lcorl
|
UTSW |
5 |
45,891,130 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4583:Lcorl
|
UTSW |
5 |
45,890,931 (GRCm39) |
nonsense |
probably null |
|
|
R4647:Lcorl
|
UTSW |
5 |
45,890,931 (GRCm39) |
nonsense |
probably null |
|
|
R4803:Lcorl
|
UTSW |
5 |
45,904,623 (GRCm39) |
unclassified |
probably null |
|
|
R5524:Lcorl
|
UTSW |
5 |
45,932,865 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5524:Lcorl
|
UTSW |
5 |
45,932,864 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5526:Lcorl
|
UTSW |
5 |
45,891,069 (GRCm39) |
missense |
probably benign |
|
|
R5533:Lcorl
|
UTSW |
5 |
45,891,219 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5772:Lcorl
|
UTSW |
5 |
45,952,709 (GRCm39) |
splice site |
probably null |
|
|
R5927:Lcorl
|
UTSW |
5 |
45,882,766 (GRCm39) |
intron |
probably benign |
|
|
R6175:Lcorl
|
UTSW |
5 |
45,933,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Lcorl
|
UTSW |
5 |
45,890,839 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7078:Lcorl
|
UTSW |
5 |
45,904,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Lcorl
|
UTSW |
5 |
46,014,801 (GRCm39) |
splice site |
probably null |
|
|
R7624:Lcorl
|
UTSW |
5 |
45,859,307 (GRCm39) |
missense |
probably benign |
|
|
R9008:Lcorl
|
UTSW |
5 |
45,931,516 (GRCm39) |
intron |
probably benign |
|
|
R9354:Lcorl
|
UTSW |
5 |
45,890,968 (GRCm39) |
nonsense |
probably null |
|
|
R9497:Lcorl
|
UTSW |
5 |
45,891,339 (GRCm39) |
missense |
probably benign |
|
|
X0023:Lcorl
|
UTSW |
5 |
45,891,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGAGATTCTTACTGTGTACTCC -3'
(R):5'- ACCACTGTGAACTGCCACTAG -3'
Sequencing Primer
(F):5'- GGCATGCACTGTTTTCCCAGAG -3'
(R):5'- TGAACTGCCACTAGATTCTAATAATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation