Incidental Mutation 'IGL01993:Lars2'
| ID |
182088 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lars2
|
| Ensembl Gene |
ENSMUSG00000035202 |
| Gene Name |
leucyl-tRNA synthetase, mitochondrial |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01993
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
123196001-123291731 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 123224008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038863]
[ENSMUST00000217116]
|
| AlphaFold |
Q8VDC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038863
|
| SMART Domains |
Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1
|
57 |
223 |
7.6e-24 |
PFAM |
|
Pfam:tRNA-synt_1g
|
83 |
239 |
9.3e-20 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
269 |
430 |
1.1e-8 |
PFAM |
|
Pfam:tRNA-synt_1
|
434 |
609 |
5.6e-8 |
PFAM |
|
Pfam:tRNA-synt_1g
|
589 |
682 |
1.2e-6 |
PFAM |
|
Pfam:tRNA-synt_1
|
633 |
678 |
1.6e-7 |
PFAM |
|
Pfam:Anticodon_1
|
724 |
867 |
9.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217116
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,208,452 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
A |
T |
4: 49,380,131 (GRCm39) |
S398T |
probably benign |
Het |
| Adgrb2 |
G |
T |
4: 129,912,635 (GRCm39) |
E1296D |
possibly damaging |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
C |
A |
2: 25,164,725 (GRCm39) |
D322E |
probably benign |
Het |
| Apobec1 |
A |
G |
6: 122,565,138 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
T |
C |
15: 99,595,353 (GRCm39) |
V393A |
probably benign |
Het |
| Cfap65 |
A |
C |
1: 74,959,702 (GRCm39) |
F816C |
probably damaging |
Het |
| Cfap69 |
A |
C |
5: 5,631,284 (GRCm39) |
L914R |
probably damaging |
Het |
| Cgas |
A |
G |
9: 78,349,802 (GRCm39) |
S187P |
probably benign |
Het |
| Cspg4 |
C |
T |
9: 56,805,762 (GRCm39) |
T2191I |
probably benign |
Het |
| Cyp11a1 |
T |
A |
9: 57,928,106 (GRCm39) |
I210N |
probably damaging |
Het |
| Dgkb |
T |
A |
12: 38,032,009 (GRCm39) |
Y24N |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,449,136 (GRCm39) |
T504A |
possibly damaging |
Het |
| Fam135a |
A |
T |
1: 24,094,992 (GRCm39) |
D125E |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,433,664 (GRCm39) |
H345R |
possibly damaging |
Het |
| Gm12253 |
T |
C |
11: 58,325,379 (GRCm39) |
V17A |
probably damaging |
Het |
| Hars1 |
C |
T |
18: 36,903,265 (GRCm39) |
G355D |
probably damaging |
Het |
| Hpgd |
A |
T |
8: 56,772,097 (GRCm39) |
I190F |
probably benign |
Het |
| Ighv1-34 |
A |
T |
12: 114,815,003 (GRCm39) |
M53K |
probably benign |
Het |
| Ildr2 |
A |
T |
1: 166,096,939 (GRCm39) |
T53S |
possibly damaging |
Het |
| Ints5 |
T |
A |
19: 8,872,829 (GRCm39) |
C263S |
probably benign |
Het |
| Ldha |
G |
A |
7: 46,504,524 (GRCm39) |
A349T |
possibly damaging |
Het |
| Map3k2 |
T |
A |
18: 32,359,684 (GRCm39) |
C512* |
probably null |
Het |
| Parp4 |
G |
A |
14: 56,848,245 (GRCm39) |
R687Q |
possibly damaging |
Het |
| Plk2 |
T |
C |
13: 110,535,731 (GRCm39) |
S518P |
probably damaging |
Het |
| Prrc2b |
T |
G |
2: 32,114,057 (GRCm39) |
V2036G |
possibly damaging |
Het |
| Psg16 |
T |
A |
7: 16,827,631 (GRCm39) |
S196T |
probably benign |
Het |
| Psme3ip1 |
G |
T |
8: 95,302,380 (GRCm39) |
A217D |
possibly damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,450,770 (GRCm39) |
T56A |
possibly damaging |
Het |
| Retsat |
T |
C |
6: 72,581,978 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
G |
T |
9: 37,335,949 (GRCm39) |
L484I |
probably damaging |
Het |
| Septin4 |
G |
T |
11: 87,458,555 (GRCm39) |
G310W |
possibly damaging |
Het |
| Slc17a6 |
T |
C |
7: 51,317,705 (GRCm39) |
M446T |
possibly damaging |
Het |
| Slc38a1 |
G |
A |
15: 96,521,927 (GRCm39) |
T11M |
probably damaging |
Het |
| Tmem138 |
T |
C |
19: 10,548,952 (GRCm39) |
N106S |
probably benign |
Het |
| Traf1 |
G |
A |
2: 34,836,879 (GRCm39) |
|
probably benign |
Het |
| Tspan8 |
T |
C |
10: 115,675,913 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,973,256 (GRCm39) |
E2615G |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,219,977 (GRCm39) |
I58T |
possibly damaging |
Het |
| Zc3h12c |
A |
G |
9: 52,027,611 (GRCm39) |
S603P |
probably damaging |
Het |
| Zfp746 |
A |
T |
6: 48,059,092 (GRCm39) |
S172R |
probably damaging |
Het |
|
| Other mutations in Lars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01743:Lars2
|
APN |
9 |
123,282,313 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02155:Lars2
|
APN |
9 |
123,284,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02941:Lars2
|
APN |
9 |
123,288,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03090:Lars2
|
APN |
9 |
123,285,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03271:Lars2
|
APN |
9 |
123,288,549 (GRCm39) |
splice site |
probably null |
|
|
IGL03386:Lars2
|
APN |
9 |
123,282,455 (GRCm39) |
nonsense |
probably null |
|
|
IGL03410:Lars2
|
APN |
9 |
123,247,841 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
ulrich
|
UTSW |
9 |
123,247,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
K3955:Lars2
|
UTSW |
9 |
123,206,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0038:Lars2
|
UTSW |
9 |
123,206,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Lars2
|
UTSW |
9 |
123,267,186 (GRCm39) |
splice site |
probably benign |
|
|
R1671:Lars2
|
UTSW |
9 |
123,247,344 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1829:Lars2
|
UTSW |
9 |
123,260,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2219:Lars2
|
UTSW |
9 |
123,247,845 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2220:Lars2
|
UTSW |
9 |
123,247,845 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4610:Lars2
|
UTSW |
9 |
123,247,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5027:Lars2
|
UTSW |
9 |
123,270,560 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5195:Lars2
|
UTSW |
9 |
123,282,375 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5597:Lars2
|
UTSW |
9 |
123,284,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5756:Lars2
|
UTSW |
9 |
123,267,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Lars2
|
UTSW |
9 |
123,290,661 (GRCm39) |
missense |
probably benign |
|
|
R6045:Lars2
|
UTSW |
9 |
123,201,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Lars2
|
UTSW |
9 |
123,240,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6323:Lars2
|
UTSW |
9 |
123,270,659 (GRCm39) |
nonsense |
probably null |
|
|
R6377:Lars2
|
UTSW |
9 |
123,283,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6395:Lars2
|
UTSW |
9 |
123,200,990 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7094:Lars2
|
UTSW |
9 |
123,288,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7144:Lars2
|
UTSW |
9 |
123,261,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Lars2
|
UTSW |
9 |
123,241,019 (GRCm39) |
nonsense |
probably null |
|
|
R7254:Lars2
|
UTSW |
9 |
123,284,028 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7350:Lars2
|
UTSW |
9 |
123,256,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Lars2
|
UTSW |
9 |
123,288,568 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7614:Lars2
|
UTSW |
9 |
123,224,176 (GRCm39) |
missense |
|
|
|
R7683:Lars2
|
UTSW |
9 |
123,206,895 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8000:Lars2
|
UTSW |
9 |
123,265,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Lars2
|
UTSW |
9 |
123,288,562 (GRCm39) |
missense |
probably benign |
|
|
R8355:Lars2
|
UTSW |
9 |
123,283,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Lars2
|
UTSW |
9 |
123,241,019 (GRCm39) |
nonsense |
probably null |
|
|
R8818:Lars2
|
UTSW |
9 |
123,221,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9007:Lars2
|
UTSW |
9 |
123,260,980 (GRCm39) |
nonsense |
probably null |
|
|
R9351:Lars2
|
UTSW |
9 |
123,265,366 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1177:Lars2
|
UTSW |
9 |
123,283,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation