Incidental Mutation 'R4199:Lcorl'
| ID |
318668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcorl
|
| Ensembl Gene |
ENSMUSG00000015882 |
| Gene Name |
ligand dependent nuclear receptor corepressor-like |
| Synonyms |
A830039H10Rik, Mlr1 |
| MMRRC Submission |
041029-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R4199 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
45854523-46014957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45891130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 408
(K408E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016026]
[ENSMUST00000045586]
[ENSMUST00000087164]
[ENSMUST00000121573]
[ENSMUST00000190036]
|
| AlphaFold |
Q3U285 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016026
AA Change: K491E
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000016026
Gene: ENSMUSG00000015882
AA Change: K491E
| 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: K408E
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000084408
Gene: ENSMUSG00000015882
AA Change: K408E
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
C |
G |
18: 36,794,101 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
G |
T |
10: 79,971,326 (GRCm39) |
H173Q |
probably damaging |
Het |
| Ccna1 |
G |
A |
3: 54,954,736 (GRCm39) |
A177V |
possibly damaging |
Het |
| Ces1f |
A |
G |
8: 93,983,517 (GRCm39) |
F497L |
probably benign |
Het |
| Cic |
TCCCCC |
TCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably null |
Het |
| Disc1 |
C |
T |
8: 125,875,198 (GRCm39) |
T556I |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,849,414 (GRCm39) |
S63P |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,913,364 (GRCm39) |
A121T |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,491,325 (GRCm39) |
N351S |
probably damaging |
Het |
| Fbxo34 |
T |
A |
14: 47,768,454 (GRCm39) |
W605R |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
| Gal3st3 |
T |
A |
19: 5,357,808 (GRCm39) |
Y394* |
probably null |
Het |
| Gga1 |
A |
G |
15: 78,773,275 (GRCm39) |
E301G |
probably damaging |
Het |
| Ifitm5 |
T |
A |
7: 140,529,149 (GRCm39) |
*153Y |
probably null |
Het |
| Ighg2b |
G |
T |
12: 113,270,907 (GRCm39) |
P110Q |
probably damaging |
Het |
| Il17rb |
C |
T |
14: 29,718,601 (GRCm39) |
D494N |
probably benign |
Het |
| Irf2bp2 |
C |
A |
8: 127,318,313 (GRCm39) |
A418S |
probably damaging |
Het |
| Lcn9 |
A |
G |
2: 25,714,773 (GRCm39) |
T171A |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,264,927 (GRCm39) |
R1653* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,593,311 (GRCm39) |
H420Q |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,815,224 (GRCm39) |
V426E |
possibly damaging |
Het |
| Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Papln |
C |
T |
12: 83,830,166 (GRCm39) |
T1012I |
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,789,004 (GRCm39) |
T921A |
probably benign |
Het |
| Pknox1 |
C |
A |
17: 31,821,790 (GRCm39) |
Q294K |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 51,989,928 (GRCm39) |
N18S |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,657 (GRCm39) |
|
probably null |
Het |
| Sfxn5 |
T |
A |
6: 85,192,724 (GRCm39) |
E319V |
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,667,366 (GRCm39) |
F774S |
probably damaging |
Het |
| Syp |
A |
G |
X: 7,506,166 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
A |
G |
8: 123,994,564 (GRCm39) |
T544A |
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 |
|
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'- AAGTGCTGTGAGGTACCCCATAG -3'
(R):5'- TCACAAGCTGATGGTTCTGG -3'
Sequencing Primer
(F):5'- GAGGTACCCCATAGATTCCTTGTG -3'
(R):5'- TCTGCTGGATGTCATGTATCAAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation