Incidental Mutation 'R0070:Lcorl'
| ID |
17139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcorl
|
| Ensembl Gene |
ENSMUSG00000015882 |
| Gene Name |
ligand dependent nuclear receptor corepressor-like |
| Synonyms |
Mlr1, A830039H10Rik |
| MMRRC Submission |
038361-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R0070 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
45697181-45857615 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45733701 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 437
(R437C)
|
| 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: R520C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016026
Gene: ENSMUSG00000015882
AA Change: R520C
| 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: R437C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084408
Gene: ENSMUSG00000015882
AA Change: R437C
| 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 |
0.1941 |
| Coding Region Coverage |
- 1x: 88.0%
- 3x: 83.9%
- 10x: 69.3%
- 20x: 41.9%
|
| Validation Efficiency |
88% (67/76) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 55,802,154 (GRCm38) |
I387T |
probably damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,392,302 (GRCm38) |
L173Q |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,447,452 (GRCm38) |
E892G |
probably benign |
Het |
| AU018091 |
T |
C |
7: 3,158,898 (GRCm38) |
|
probably null |
Het |
| Capn12 |
T |
C |
7: 28,889,126 (GRCm38) |
|
probably benign |
Het |
| Capn2 |
C |
A |
1: 182,473,869 (GRCm38) |
|
probably benign |
Het |
| Cd79b |
A |
G |
11: 106,311,918 (GRCm38) |
|
probably benign |
Het |
| Cdh7 |
C |
T |
1: 110,098,372 (GRCm38) |
A446V |
probably benign |
Het |
| Ciapin1 |
T |
C |
8: 94,825,219 (GRCm38) |
N246S |
possibly damaging |
Het |
| Fam126a |
T |
C |
5: 23,964,999 (GRCm38) |
S451G |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,372,726 (GRCm38) |
|
probably benign |
Het |
| Gm2027 |
T |
A |
12: 44,222,362 (GRCm38) |
|
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,818,984 (GRCm38) |
R117* |
probably null |
Het |
| Hykk |
T |
A |
9: 54,922,348 (GRCm38) |
|
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,801,103 (GRCm38) |
D346G |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,892,362 (GRCm38) |
V191A |
probably benign |
Het |
| Mtch1 |
T |
A |
17: 29,340,059 (GRCm38) |
|
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,660,250 (GRCm38) |
N217S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,570,714 (GRCm38) |
E1669G |
probably damaging |
Het |
| Olfr132 |
A |
G |
17: 38,130,889 (GRCm38) |
L101P |
probably damaging |
Het |
| Olfr1362 |
T |
C |
13: 21,611,261 (GRCm38) |
K236R |
possibly damaging |
Het |
| Olfr470 |
T |
G |
7: 107,844,917 (GRCm38) |
D272A |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,639,991 (GRCm38) |
W940G |
probably damaging |
Het |
| Pi4k2b |
A |
C |
5: 52,756,918 (GRCm38) |
D309A |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,466,990 (GRCm38) |
C233R |
probably damaging |
Het |
| Prkd3 |
A |
G |
17: 78,954,510 (GRCm38) |
Y792H |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 29,982,727 (GRCm38) |
L146S |
probably damaging |
Het |
| Serpinh1 |
A |
T |
7: 99,349,314 (GRCm38) |
S36R |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,161,525 (GRCm38) |
T2030S |
probably benign |
Het |
| Sin3b |
T |
A |
8: 72,725,582 (GRCm38) |
H105Q |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,988,016 (GRCm38) |
D557E |
possibly damaging |
Het |
| Stag1 |
C |
T |
9: 100,956,408 (GRCm38) |
P1238S |
probably null |
Het |
| Stra6 |
C |
T |
9: 58,152,615 (GRCm38) |
|
probably benign |
Het |
| Taok1 |
T |
A |
11: 77,553,717 (GRCm38) |
M511L |
probably benign |
Het |
| Tmem127 |
T |
C |
2: 127,257,059 (GRCm38) |
V171A |
probably damaging |
Het |
| Tmem147 |
T |
C |
7: 30,728,101 (GRCm38) |
Y97C |
probably damaging |
Het |
| Tmem150a |
A |
G |
6: 72,358,759 (GRCm38) |
|
probably null |
Het |
| Top2a |
C |
G |
11: 99,015,060 (GRCm38) |
|
probably null |
Het |
| Zc3hav1l |
A |
T |
6: 38,295,190 (GRCm38) |
S215T |
probably damaging |
Het |
| Zscan20 |
C |
T |
4: 128,585,882 (GRCm38) |
V939I |
possibly damaging |
Het |
|
| Other mutations in Lcorl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Lcorl
|
APN |
5 |
45,747,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01611:Lcorl
|
APN |
5 |
45,747,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03014:Lcorl
|
UTSW |
5 |
45,774,029 (GRCm38) |
intron |
probably benign |
|
|
R0070:Lcorl
|
UTSW |
5 |
45,733,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0499:Lcorl
|
UTSW |
5 |
45,734,369 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1518:Lcorl
|
UTSW |
5 |
45,734,201 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1817:Lcorl
|
UTSW |
5 |
45,795,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1977:Lcorl
|
UTSW |
5 |
45,775,420 (GRCm38) |
missense |
probably null |
0.16 |
|
R2171:Lcorl
|
UTSW |
5 |
45,747,151 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3737:Lcorl
|
UTSW |
5 |
45,734,041 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3738:Lcorl
|
UTSW |
5 |
45,734,041 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3739:Lcorl
|
UTSW |
5 |
45,734,041 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3825:Lcorl
|
UTSW |
5 |
45,775,387 (GRCm38) |
splice site |
probably benign |
|
|
R4035:Lcorl
|
UTSW |
5 |
45,734,041 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4199:Lcorl
|
UTSW |
5 |
45,733,788 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4583:Lcorl
|
UTSW |
5 |
45,733,589 (GRCm38) |
nonsense |
probably null |
|
|
R4647:Lcorl
|
UTSW |
5 |
45,733,589 (GRCm38) |
nonsense |
probably null |
|
|
R4803:Lcorl
|
UTSW |
5 |
45,747,281 (GRCm38) |
unclassified |
probably null |
|
|
R5524:Lcorl
|
UTSW |
5 |
45,775,523 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5524:Lcorl
|
UTSW |
5 |
45,775,522 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5526:Lcorl
|
UTSW |
5 |
45,733,727 (GRCm38) |
missense |
probably benign |
|
|
R5533:Lcorl
|
UTSW |
5 |
45,733,877 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R5772:Lcorl
|
UTSW |
5 |
45,795,367 (GRCm38) |
splice site |
probably null |
|
|
R5927:Lcorl
|
UTSW |
5 |
45,725,424 (GRCm38) |
intron |
probably benign |
|
|
R6175:Lcorl
|
UTSW |
5 |
45,776,490 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6734:Lcorl
|
UTSW |
5 |
45,733,497 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6864:Lcorl
|
UTSW |
5 |
45,747,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7078:Lcorl
|
UTSW |
5 |
45,747,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7396:Lcorl
|
UTSW |
5 |
45,857,459 (GRCm38) |
splice site |
probably null |
|
|
R7624:Lcorl
|
UTSW |
5 |
45,701,965 (GRCm38) |
missense |
probably benign |
|
|
R9008:Lcorl
|
UTSW |
5 |
45,774,174 (GRCm38) |
intron |
probably benign |
|
|
R9354:Lcorl
|
UTSW |
5 |
45,733,626 (GRCm38) |
nonsense |
probably null |
|
|
R9497:Lcorl
|
UTSW |
5 |
45,733,997 (GRCm38) |
missense |
probably benign |
|
|
X0023:Lcorl
|
UTSW |
5 |
45,734,012 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-01-20 |
Incidental Mutation