Incidental Mutation 'R4035:Lcorl'
ID |
313662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lcorl
|
Ensembl Gene |
ENSMUSG00000015882 |
Gene Name |
ligand dependent nuclear receptor corepressor-like |
Synonyms |
A830039H10Rik, Mlr1 |
MMRRC Submission |
041613-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
R4035 (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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (51/51) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
A |
G |
6: 124,333,879 (GRCm39) |
F34L |
probably benign |
Het |
Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
Ano5 |
A |
G |
7: 51,216,233 (GRCm39) |
|
probably benign |
Het |
Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
Bhlhe41 |
A |
G |
6: 145,808,754 (GRCm39) |
S353P |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
Cep350 |
T |
C |
1: 155,835,541 (GRCm39) |
T52A |
probably benign |
Het |
Coro2b |
A |
G |
9: 62,333,071 (GRCm39) |
|
probably benign |
Het |
Ctcf |
A |
T |
8: 106,390,789 (GRCm39) |
E132V |
possibly damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
Cxcl2 |
A |
T |
5: 91,052,272 (GRCm39) |
Q87L |
possibly damaging |
Het |
Dop1a |
T |
C |
9: 86,376,486 (GRCm39) |
V240A |
probably damaging |
Het |
Etfdh |
C |
T |
3: 79,521,018 (GRCm39) |
V294I |
probably benign |
Het |
Fnip2 |
C |
T |
3: 79,386,808 (GRCm39) |
V973I |
probably benign |
Het |
Fyco1 |
T |
C |
9: 123,630,348 (GRCm39) |
T1286A |
probably benign |
Het |
Gbp10 |
T |
A |
5: 105,372,324 (GRCm39) |
E145D |
possibly damaging |
Het |
Gsdme |
A |
T |
6: 50,206,428 (GRCm39) |
N138K |
possibly damaging |
Het |
Hcn4 |
A |
G |
9: 58,751,172 (GRCm39) |
D266G |
probably benign |
Het |
Henmt1 |
T |
C |
3: 108,866,001 (GRCm39) |
V199A |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,226,624 (GRCm39) |
K200* |
probably null |
Het |
Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
Isl2 |
A |
G |
9: 55,449,754 (GRCm39) |
S119G |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,388,614 (GRCm39) |
N538D |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
Ndst4 |
C |
T |
3: 125,232,385 (GRCm39) |
T318M |
probably damaging |
Het |
Nlrp4f |
T |
C |
13: 65,341,821 (GRCm39) |
N608S |
probably benign |
Het |
Nolc1 |
GCA |
GCACCA |
19: 46,069,797 (GRCm39) |
|
probably benign |
Het |
Or6d12 |
A |
G |
6: 116,493,590 (GRCm39) |
N284S |
possibly damaging |
Het |
Or8b4 |
G |
A |
9: 37,829,937 (GRCm39) |
|
probably benign |
Het |
Osbpl2 |
G |
A |
2: 179,803,353 (GRCm39) |
R475H |
probably damaging |
Het |
Ppfibp1 |
A |
G |
6: 146,898,334 (GRCm39) |
K97E |
probably damaging |
Het |
Pramel26 |
T |
A |
4: 143,537,026 (GRCm39) |
D435V |
probably benign |
Het |
Prpsap1 |
A |
T |
11: 116,363,834 (GRCm39) |
M263K |
probably benign |
Het |
Prtg |
G |
T |
9: 72,749,991 (GRCm39) |
E132* |
probably null |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rttn |
T |
C |
18: 89,013,777 (GRCm39) |
V482A |
probably benign |
Het |
Samsn1 |
A |
G |
16: 75,706,073 (GRCm39) |
M1T |
probably null |
Het |
Scel |
A |
G |
14: 103,767,440 (GRCm39) |
N33S |
probably damaging |
Het |
Sema4g |
A |
T |
19: 44,989,853 (GRCm39) |
Y644F |
probably damaging |
Het |
Slc39a10 |
G |
A |
1: 46,851,234 (GRCm39) |
T752M |
probably damaging |
Het |
Snx27 |
T |
C |
3: 94,431,551 (GRCm39) |
D281G |
probably damaging |
Het |
Spesp1 |
T |
A |
9: 62,180,318 (GRCm39) |
I197L |
probably benign |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
Tpgs1 |
A |
G |
10: 79,505,199 (GRCm39) |
|
probably null |
Het |
Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
Ttk |
C |
A |
9: 83,736,890 (GRCm39) |
P450T |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,740,165 (GRCm39) |
Q3458P |
probably benign |
Het |
Ube2z |
A |
G |
11: 95,951,893 (GRCm39) |
F152L |
probably damaging |
Het |
Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
Zfa-ps |
T |
A |
10: 52,420,636 (GRCm39) |
|
noncoding transcript |
Het |
Zfp267 |
T |
G |
3: 36,218,989 (GRCm39) |
H337Q |
possibly 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 |
|
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'- TTACAGGCCCAGAACAGTCTAG -3'
(R):5'- GAAAGTAAAGAAACTTGTGCTGTGC -3'
Sequencing Primer
(F):5'- AACAGTCTAGTTTGTTCTGTTTAGG -3'
(R):5'- ACTTGTGCTGTGCTGCAAAAAG -3'
|
Posted On |
2015-04-30 |