Incidental Mutation 'R5524:Lcorl'
ID |
431740 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lcorl
|
Ensembl Gene |
ENSMUSG00000015882 |
Gene Name |
ligand dependent nuclear receptor corepressor-like |
Synonyms |
A830039H10Rik, Mlr1 |
MMRRC Submission |
043082-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
R5524 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
45854523-46014957 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 45932865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016026]
[ENSMUST00000016026]
[ENSMUST00000045586]
[ENSMUST00000045586]
[ENSMUST00000087164]
[ENSMUST00000087164]
[ENSMUST00000121573]
[ENSMUST00000121573]
[ENSMUST00000186633]
[ENSMUST00000189859]
[ENSMUST00000189859]
[ENSMUST00000190036]
[ENSMUST00000190036]
|
AlphaFold |
Q3U285 |
Predicted Effect |
probably null
Transcript: ENSMUST00000016026
|
SMART Domains |
Protein: ENSMUSP00000016026 Gene: ENSMUSG00000015882
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 null
Transcript: ENSMUST00000016026
|
SMART Domains |
Protein: ENSMUSP00000016026 Gene: ENSMUSG00000015882
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 null
Transcript: ENSMUST00000045586
|
SMART Domains |
Protein: ENSMUSP00000042677 Gene: ENSMUSG00000015882
Domain | Start | End | E-Value | Type |
low complexity region
|
234 |
253 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000045586
|
SMART Domains |
Protein: ENSMUSP00000042677 Gene: ENSMUSG00000015882
Domain | Start | End | E-Value | Type |
low complexity region
|
234 |
253 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000067997
|
Predicted Effect |
probably null
Transcript: ENSMUST00000087164
|
SMART Domains |
Protein: ENSMUSP00000084408 Gene: ENSMUSG00000015882
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 null
Transcript: ENSMUST00000087164
|
SMART Domains |
Protein: ENSMUSP00000084408 Gene: ENSMUSG00000015882
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 null
Transcript: ENSMUST00000121573
|
SMART Domains |
Protein: ENSMUSP00000112416 Gene: ENSMUSG00000015882
Domain | Start | End | E-Value | Type |
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121573
|
SMART Domains |
Protein: ENSMUSP00000112416 Gene: ENSMUSG00000015882
Domain | Start | End | E-Value | Type |
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156295
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186633
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187615
|
Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000190036
|
Predicted Effect |
probably null
Transcript: ENSMUST00000190036
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200385
|
Meta Mutation Damage Score |
0.9477 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
Validation Efficiency |
100% (76/76) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010L04Rik |
T |
A |
7: 82,503,150 (GRCm39) |
|
noncoding transcript |
Het |
6030469F06Rik |
A |
G |
12: 31,234,862 (GRCm39) |
|
noncoding transcript |
Het |
A830031A19Rik |
T |
A |
11: 24,008,776 (GRCm39) |
I13F |
unknown |
Het |
Acsbg2 |
A |
C |
17: 57,157,197 (GRCm39) |
L309R |
probably damaging |
Het |
Adam32 |
A |
T |
8: 25,412,328 (GRCm39) |
M76K |
probably damaging |
Het |
Adamts14 |
C |
A |
10: 61,066,222 (GRCm39) |
R297L |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
Asb14 |
A |
G |
14: 26,622,408 (GRCm39) |
K80E |
possibly damaging |
Het |
Baiap2l1 |
T |
C |
5: 144,217,759 (GRCm39) |
T276A |
probably benign |
Het |
Cacna1d |
G |
A |
14: 29,764,086 (GRCm39) |
P2127S |
probably benign |
Het |
Ces2g |
A |
G |
8: 105,693,527 (GRCm39) |
T403A |
probably benign |
Het |
Cgn |
A |
C |
3: 94,687,299 (GRCm39) |
M1R |
probably null |
Het |
Chd5 |
T |
G |
4: 152,461,087 (GRCm39) |
S1226A |
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,894,558 (GRCm39) |
V1497A |
probably damaging |
Het |
Cpd |
A |
T |
11: 76,688,727 (GRCm39) |
Y848* |
probably null |
Het |
Cyp2a12 |
T |
C |
7: 26,730,656 (GRCm39) |
V207A |
probably benign |
Het |
Cyth1 |
G |
A |
11: 118,073,593 (GRCm39) |
R247W |
probably benign |
Het |
Derl3 |
T |
C |
10: 75,730,324 (GRCm39) |
V129A |
possibly damaging |
Het |
Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
Eml1 |
A |
T |
12: 108,487,635 (GRCm39) |
I518L |
probably damaging |
Het |
Eri1 |
A |
G |
8: 35,945,763 (GRCm39) |
V174A |
probably benign |
Het |
Fgd3 |
T |
A |
13: 49,431,053 (GRCm39) |
I435F |
probably damaging |
Het |
Foxd1 |
T |
G |
13: 98,492,412 (GRCm39) |
S429A |
unknown |
Het |
Ftcd |
T |
A |
10: 76,425,165 (GRCm39) |
|
probably benign |
Het |
Gm5478 |
G |
T |
15: 101,553,102 (GRCm39) |
N323K |
probably benign |
Het |
Gnpda1 |
G |
T |
18: 38,468,161 (GRCm39) |
P45Q |
probably damaging |
Het |
Kif20a |
G |
T |
18: 34,763,678 (GRCm39) |
|
probably null |
Het |
Klrb1 |
T |
C |
6: 128,689,296 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
A |
2: 41,000,900 (GRCm39) |
K2108M |
probably damaging |
Het |
Lyst |
C |
T |
13: 13,921,364 (GRCm39) |
P3437S |
probably benign |
Het |
Macrod2 |
A |
T |
2: 142,159,863 (GRCm39) |
M349L |
possibly damaging |
Het |
Marchf7 |
T |
C |
2: 60,075,647 (GRCm39) |
|
probably benign |
Het |
Mcm9 |
A |
T |
10: 53,424,786 (GRCm39) |
C601* |
probably null |
Het |
Muc19 |
G |
T |
15: 91,778,587 (GRCm39) |
|
noncoding transcript |
Het |
Mycbp2 |
T |
C |
14: 103,532,673 (GRCm39) |
D427G |
probably damaging |
Het |
Nap1l5 |
C |
A |
6: 58,883,763 (GRCm39) |
V64L |
possibly damaging |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Npas3 |
T |
C |
12: 54,115,721 (GRCm39) |
V863A |
possibly damaging |
Het |
Nr2c2 |
T |
A |
6: 92,116,746 (GRCm39) |
|
probably null |
Het |
Oosp3 |
T |
C |
19: 11,682,794 (GRCm39) |
F56S |
possibly damaging |
Het |
Or1a1b |
A |
T |
11: 74,097,409 (GRCm39) |
L211Q |
probably damaging |
Het |
Or5k17 |
C |
T |
16: 58,746,172 (GRCm39) |
C254Y |
probably benign |
Het |
Or8g20 |
C |
T |
9: 39,396,283 (GRCm39) |
V89M |
probably damaging |
Het |
Plgrkt |
G |
A |
19: 29,327,850 (GRCm39) |
P78S |
probably damaging |
Het |
Prss36 |
G |
A |
7: 127,533,637 (GRCm39) |
Q56* |
probably null |
Het |
Ptprz1 |
A |
G |
6: 22,986,317 (GRCm39) |
|
probably null |
Het |
Qsox2 |
A |
T |
2: 26,107,699 (GRCm39) |
F265I |
probably damaging |
Het |
R3hcc1l |
G |
T |
19: 42,552,307 (GRCm39) |
E435* |
probably null |
Het |
Shbg |
T |
C |
11: 69,507,588 (GRCm39) |
D163G |
probably benign |
Het |
Skint7 |
T |
A |
4: 111,837,546 (GRCm39) |
L108H |
probably damaging |
Het |
Smtnl1 |
T |
A |
2: 84,649,238 (GRCm39) |
E5D |
probably benign |
Het |
Spock1 |
C |
T |
13: 57,704,608 (GRCm39) |
G120D |
probably damaging |
Het |
Stk11ip |
G |
T |
1: 75,508,971 (GRCm39) |
C700F |
probably damaging |
Het |
Sult4a1 |
C |
T |
15: 83,974,159 (GRCm39) |
|
probably null |
Het |
Syngap1 |
A |
G |
17: 27,176,126 (GRCm39) |
H138R |
probably damaging |
Het |
Tdrd7 |
A |
G |
4: 46,034,301 (GRCm39) |
K1016E |
probably benign |
Het |
Tmem167b |
T |
C |
3: 108,467,569 (GRCm39) |
K26E |
possibly damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,883,943 (GRCm39) |
S146P |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,607,060 (GRCm39) |
V16242I |
possibly damaging |
Het |
Vmn2r-ps3 |
T |
A |
3: 63,960,870 (GRCm39) |
|
noncoding transcript |
Het |
Vps13c |
T |
C |
9: 67,864,838 (GRCm39) |
F3049S |
probably damaging |
Het |
Vstm2l |
T |
C |
2: 157,777,355 (GRCm39) |
W78R |
probably damaging |
Het |
Wbp1l |
C |
A |
19: 46,642,695 (GRCm39) |
A216D |
possibly damaging |
Het |
Zer1 |
C |
G |
2: 29,994,866 (GRCm39) |
V510L |
probably damaging |
Het |
Zfp28 |
A |
T |
7: 6,397,850 (GRCm39) |
|
probably null |
Het |
Zfp352 |
C |
A |
4: 90,113,341 (GRCm39) |
P494T |
possibly damaging |
Het |
Zfp353-ps |
A |
G |
8: 42,535,600 (GRCm39) |
|
noncoding transcript |
Het |
Zfp563 |
A |
T |
17: 33,321,515 (GRCm39) |
|
probably null |
Het |
Zim1 |
T |
C |
7: 6,680,320 (GRCm39) |
N448D |
probably benign |
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 |
45,932,864 (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 |
R6864:Lcorl
|
UTSW |
5 |
45,904,546 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGCTGACACTCTTATTGGCTC -3'
(R):5'- GCATAAACTTTTCGGCAGTGC -3'
Sequencing Primer
(F):5'- GACACTCTTATTGGCTCTAGTAAGAC -3'
(R):5'- TTGGGATTTTATGAAAGGCA -3'
|
Posted On |
2016-10-05 |