Incidental Mutation 'R6734:Lcorl'
ID |
528334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lcorl
|
Ensembl Gene |
ENSMUSG00000015882 |
Gene Name |
ligand dependent nuclear receptor corepressor-like |
Synonyms |
A830039H10Rik, Mlr1 |
MMRRC Submission |
044852-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
R6734 (G1)
|
Quality Score |
222.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
45854523-46014957 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45890839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 505
(S505P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016026]
[ENSMUST00000045586]
[ENSMUST00000087164]
[ENSMUST00000121573]
[ENSMUST00000190036]
|
AlphaFold |
Q3U285 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016026
AA Change: S588P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000016026 Gene: ENSMUSG00000015882 AA Change: S588P
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 |
probably damaging
Transcript: ENSMUST00000087164
AA Change: S505P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000084408 Gene: ENSMUSG00000015882 AA Change: S505P
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 |
0.0991 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (52/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Ano6 |
A |
G |
15: 95,847,417 (GRCm39) |
K554R |
probably damaging |
Het |
Arhgef10 |
A |
T |
8: 15,025,053 (GRCm39) |
I703F |
probably damaging |
Het |
Bbs1 |
T |
C |
19: 4,953,924 (GRCm39) |
S80G |
probably benign |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Camk1 |
C |
A |
6: 113,311,345 (GRCm39) |
R352L |
probably benign |
Het |
Cand1 |
G |
A |
10: 119,047,897 (GRCm39) |
P531L |
possibly damaging |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Col24a1 |
C |
A |
3: 145,214,429 (GRCm39) |
P1384Q |
probably benign |
Het |
Csmd2 |
C |
A |
4: 128,357,606 (GRCm39) |
T1689K |
probably benign |
Het |
Cyp26a1 |
T |
A |
19: 37,689,660 (GRCm39) |
L452H |
probably damaging |
Het |
Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
Dennd6a |
G |
T |
14: 26,329,774 (GRCm39) |
R115L |
possibly damaging |
Het |
Eml2 |
T |
A |
7: 18,934,432 (GRCm39) |
V377E |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,334,629 (GRCm39) |
E855G |
probably benign |
Het |
Fam149a |
A |
T |
8: 45,834,478 (GRCm39) |
I107K |
probably benign |
Het |
Fam227b |
A |
T |
2: 125,968,896 (GRCm39) |
Y59* |
probably null |
Het |
Fbn2 |
T |
C |
18: 58,169,032 (GRCm39) |
E2249G |
probably damaging |
Het |
Flrt1 |
T |
C |
19: 7,073,524 (GRCm39) |
D341G |
possibly damaging |
Het |
Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
Gsdma2 |
A |
G |
11: 98,540,416 (GRCm39) |
T112A |
possibly damaging |
Het |
Klhl24 |
T |
C |
16: 19,926,279 (GRCm39) |
V269A |
probably damaging |
Het |
Liph |
A |
G |
16: 21,802,707 (GRCm39) |
S121P |
probably damaging |
Het |
Lrp4 |
G |
A |
2: 91,316,242 (GRCm39) |
V787M |
possibly damaging |
Het |
Lrrd1 |
A |
C |
5: 3,900,226 (GRCm39) |
D177A |
possibly damaging |
Het |
Mbd1 |
G |
A |
18: 74,409,114 (GRCm39) |
R399H |
probably damaging |
Het |
Naa25 |
C |
T |
5: 121,576,888 (GRCm39) |
T879M |
possibly damaging |
Het |
Naa35 |
T |
G |
13: 59,756,005 (GRCm39) |
L147R |
possibly damaging |
Het |
Ninl |
C |
A |
2: 150,787,003 (GRCm39) |
|
probably null |
Het |
Nrap |
T |
C |
19: 56,333,941 (GRCm39) |
D972G |
probably damaging |
Het |
Or9k7 |
A |
G |
10: 130,046,126 (GRCm39) |
F291S |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,592,551 (GRCm39) |
E31G |
probably damaging |
Het |
Plec |
C |
T |
15: 76,078,603 (GRCm39) |
E41K |
probably damaging |
Het |
Plxnb1 |
A |
T |
9: 108,937,988 (GRCm39) |
K1245* |
probably null |
Het |
Ppfia1 |
T |
C |
7: 144,032,790 (GRCm39) |
T1263A |
probably damaging |
Het |
Prex2 |
G |
A |
1: 11,150,283 (GRCm39) |
V152I |
probably damaging |
Het |
Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
Prss3l |
T |
C |
6: 41,422,321 (GRCm39) |
Y28C |
probably damaging |
Het |
Prune2 |
T |
G |
19: 16,981,097 (GRCm39) |
F85V |
probably damaging |
Het |
Rrp1b |
T |
G |
17: 32,274,278 (GRCm39) |
|
probably benign |
Het |
Sec62 |
A |
G |
3: 30,864,609 (GRCm39) |
T158A |
probably benign |
Het |
Sema6a |
G |
A |
18: 47,412,236 (GRCm39) |
T526I |
probably benign |
Het |
Shank1 |
G |
T |
7: 44,003,110 (GRCm39) |
A1610S |
probably benign |
Het |
Slc24a4 |
T |
C |
12: 102,185,259 (GRCm39) |
V123A |
probably damaging |
Het |
Stk11ip |
T |
C |
1: 75,509,013 (GRCm39) |
V714A |
probably benign |
Het |
Tas1r3 |
T |
C |
4: 155,945,257 (GRCm39) |
T655A |
probably damaging |
Het |
Tns2 |
G |
T |
15: 102,011,551 (GRCm39) |
L10F |
probably damaging |
Het |
Trmt10c |
A |
G |
16: 55,854,489 (GRCm39) |
V382A |
probably benign |
Het |
Unc45a |
G |
C |
7: 79,986,746 (GRCm39) |
T149R |
probably damaging |
Het |
Zhx3 |
T |
G |
2: 160,623,640 (GRCm39) |
I176L |
probably damaging |
Het |
Zscan12 |
T |
A |
13: 21,552,966 (GRCm39) |
C263* |
probably null |
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 |
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'- TCCTGTCAGAGTGAGCATTTG -3'
(R):5'- GCCGCTATCGACAGTATGATC -3'
Sequencing Primer
(F):5'- GTCAGAGTGAGCATTTGTAATTTCC -3'
(R):5'- TCGACAGTATGATCATGAAATAATGG -3'
|
Posted On |
2018-07-24 |