Incidental Mutation 'R3738:Lcorl'
ID |
270227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lcorl
|
Ensembl Gene |
ENSMUSG00000015882 |
Gene Name |
ligand dependent nuclear receptor corepressor-like |
Synonyms |
A830039H10Rik, Mlr1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
R3738 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
45854523-46014957 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45891383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 323
(N323K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016026]
[ENSMUST00000045586]
[ENSMUST00000087164]
[ENSMUST00000121573]
[ENSMUST00000190036]
|
AlphaFold |
Q3U285 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016026
AA Change: N406K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000016026 Gene: ENSMUSG00000015882 AA Change: N406K
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 benign
Transcript: ENSMUST00000045586
|
SMART Domains |
Protein: ENSMUSP00000042677 Gene: ENSMUSG00000015882
Domain | Start | End | E-Value | Type |
low complexity region
|
234 |
253 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087164
AA Change: N323K
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000084408 Gene: ENSMUSG00000015882 AA Change: N323K
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 benign
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 benign
Transcript: ENSMUST00000190036
|
Meta Mutation Damage Score |
0.0689 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (47/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,623,454 (GRCm39) |
|
probably benign |
Het |
Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
Atp8b1 |
A |
G |
18: 64,666,800 (GRCm39) |
|
probably benign |
Het |
Camk2d |
A |
G |
3: 126,565,488 (GRCm39) |
D136G |
probably damaging |
Het |
Capn3 |
G |
A |
2: 120,315,768 (GRCm39) |
D227N |
possibly damaging |
Het |
Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
Dlgap3 |
A |
G |
4: 127,089,399 (GRCm39) |
T332A |
probably damaging |
Het |
Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
Fbxw18 |
T |
A |
9: 109,517,981 (GRCm39) |
Y335F |
possibly damaging |
Het |
Gbp10 |
T |
A |
5: 105,372,324 (GRCm39) |
E145D |
possibly damaging |
Het |
Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
Insig1 |
T |
A |
5: 28,276,701 (GRCm39) |
I89N |
probably damaging |
Het |
Itpkc |
T |
A |
7: 26,927,029 (GRCm39) |
D295V |
possibly damaging |
Het |
Jak1 |
T |
C |
4: 101,048,665 (GRCm39) |
|
probably benign |
Het |
Kctd9 |
G |
A |
14: 67,971,737 (GRCm39) |
D157N |
possibly damaging |
Het |
Kmt2c |
A |
C |
5: 25,610,381 (GRCm39) |
F242V |
probably benign |
Het |
Lin54 |
T |
C |
5: 100,607,665 (GRCm39) |
|
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
Myh9 |
G |
A |
15: 77,651,012 (GRCm39) |
R1612C |
probably damaging |
Het |
Nr1d2 |
T |
A |
14: 18,211,804 (GRCm38) |
N433I |
possibly damaging |
Het |
Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
Or4c112 |
T |
C |
2: 88,853,954 (GRCm39) |
Y131C |
probably damaging |
Het |
Or4l15 |
T |
C |
14: 50,198,013 (GRCm39) |
N172S |
possibly damaging |
Het |
Pld4 |
T |
C |
12: 112,734,469 (GRCm39) |
I410T |
probably benign |
Het |
Pnma8b |
C |
T |
7: 16,680,521 (GRCm39) |
H502Y |
probably benign |
Het |
Pramel12 |
T |
C |
4: 143,143,212 (GRCm39) |
|
probably benign |
Het |
Rbbp8nl |
G |
T |
2: 179,923,041 (GRCm39) |
T184K |
probably benign |
Het |
Saa4 |
T |
A |
7: 46,379,053 (GRCm39) |
N96Y |
possibly damaging |
Het |
Serpinb6d |
T |
A |
13: 33,851,663 (GRCm39) |
V140E |
probably damaging |
Het |
Ska3 |
A |
T |
14: 58,049,053 (GRCm39) |
M306K |
probably benign |
Het |
Slfn4 |
T |
C |
11: 83,076,137 (GRCm39) |
M1T |
probably null |
Het |
Sorcs1 |
T |
C |
19: 50,139,659 (GRCm39) |
I1168V |
probably benign |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
Trim9 |
T |
C |
12: 70,297,969 (GRCm39) |
T579A |
probably damaging |
Het |
Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
Ube2j1 |
A |
T |
4: 33,036,723 (GRCm39) |
M16L |
probably benign |
Het |
Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
Vmn2r62 |
G |
A |
7: 42,437,311 (GRCm39) |
P391L |
probably benign |
Het |
Zfa-ps |
T |
A |
10: 52,420,636 (GRCm39) |
|
noncoding transcript |
Het |
Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
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 |
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 |
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'- GTGAGTTACAGGCCCAGAAC -3'
(R):5'- GTAAAGAAACTTGTGCTGTGCTG -3'
Sequencing Primer
(F):5'- TACAGGCCCAGAACAGTCTAGTTTG -3'
(R):5'- ACTTGTGCTGTGCTGCAAAAAG -3'
|
Posted On |
2015-03-18 |