Incidental Mutation 'IGL02142:Lars1'
| ID |
281590 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lars1
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase 1 |
| Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02142
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42360345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 704
(V704M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097590
AA Change: V704M
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: V704M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1
|
19 |
112 |
5.8e-12 |
PFAM |
|
Pfam:tRNA-synt_1g
|
48 |
114 |
3.5e-7 |
PFAM |
|
low complexity region
|
141 |
157 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
173 |
758 |
3.6e-26 |
PFAM |
|
Pfam:tRNA-synt_1g
|
632 |
764 |
1e-9 |
PFAM |
|
Pfam:tRNA-synt_1e
|
660 |
761 |
2.8e-7 |
PFAM |
|
Pfam:Anticodon_1
|
796 |
930 |
3e-18 |
PFAM |
|
Blast:IL1
|
950 |
1086 |
4e-37 |
BLAST |
|
| 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 cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,963,575 (GRCm39) |
S2060P |
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,189,014 (GRCm39) |
F426S |
probably benign |
Het |
| Actn1 |
C |
T |
12: 80,222,929 (GRCm39) |
|
probably null |
Het |
| Adgrd1 |
T |
A |
5: 129,208,648 (GRCm39) |
H251Q |
probably benign |
Het |
| Adgrg3 |
C |
T |
8: 95,766,483 (GRCm39) |
P385S |
probably damaging |
Het |
| Ampd2 |
G |
T |
3: 107,987,660 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,155,360 (GRCm39) |
S86P |
probably damaging |
Het |
| Art5 |
C |
T |
7: 101,747,123 (GRCm39) |
E121K |
probably null |
Het |
| Atad5 |
G |
A |
11: 79,985,023 (GRCm39) |
E37K |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,053,315 (GRCm39) |
V1084A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,241,507 (GRCm39) |
I626T |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,945,440 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
G |
8: 21,653,130 (GRCm39) |
C81G |
possibly damaging |
Het |
| Dnm2 |
A |
G |
9: 21,411,649 (GRCm39) |
Y622C |
probably damaging |
Het |
| Efna5 |
T |
A |
17: 62,914,340 (GRCm39) |
L201F |
unknown |
Het |
| Elac1 |
T |
C |
18: 73,871,991 (GRCm39) |
R335G |
probably benign |
Het |
| Enpp5 |
T |
C |
17: 44,396,468 (GRCm39) |
V460A |
probably benign |
Het |
| Esr2 |
A |
G |
12: 76,169,969 (GRCm39) |
V453A |
probably benign |
Het |
| Fam210b |
T |
A |
2: 172,194,497 (GRCm39) |
|
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,893 (GRCm39) |
Y305C |
probably benign |
Het |
| Fcrlb |
A |
G |
1: 170,736,248 (GRCm39) |
V176A |
probably damaging |
Het |
| Gabrq |
T |
A |
X: 71,879,783 (GRCm39) |
V256E |
possibly damaging |
Het |
| Gba1 |
T |
C |
3: 89,113,148 (GRCm39) |
L193P |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Helq |
A |
G |
5: 100,930,960 (GRCm39) |
F597L |
probably benign |
Het |
| Hrh1 |
A |
T |
6: 114,457,204 (GRCm39) |
I162L |
probably damaging |
Het |
| Jph1 |
A |
T |
1: 17,161,884 (GRCm39) |
F259L |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
| Kdm4c |
T |
A |
4: 74,225,253 (GRCm39) |
|
probably null |
Het |
| Kif13a |
T |
C |
13: 46,925,011 (GRCm39) |
T308A |
probably benign |
Het |
| Lcmt2 |
A |
G |
2: 120,969,394 (GRCm39) |
L343P |
possibly damaging |
Het |
| Lhfpl1 |
A |
G |
X: 144,123,733 (GRCm39) |
F125L |
probably benign |
Het |
| Lmbrd2 |
C |
A |
15: 9,186,772 (GRCm39) |
D582E |
probably damaging |
Het |
| Lrrn2 |
T |
A |
1: 132,866,983 (GRCm39) |
S683T |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,365,842 (GRCm39) |
D1408G |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,923,219 (GRCm39) |
K1166R |
probably benign |
Het |
| Marchf5 |
T |
C |
19: 37,197,892 (GRCm39) |
|
probably benign |
Het |
| Ms4a20 |
G |
A |
19: 11,087,695 (GRCm39) |
Q79* |
probably null |
Het |
| Naa25 |
A |
G |
5: 121,564,825 (GRCm39) |
Q555R |
possibly damaging |
Het |
| Npat |
A |
G |
9: 53,481,207 (GRCm39) |
T1005A |
probably benign |
Het |
| Nt5c3 |
G |
A |
6: 56,863,670 (GRCm39) |
A108V |
probably damaging |
Het |
| Ocrl |
T |
A |
X: 47,024,995 (GRCm39) |
M322K |
probably damaging |
Het |
| Odad2 |
C |
A |
18: 7,214,601 (GRCm39) |
W733C |
probably damaging |
Het |
| Or8g2 |
A |
G |
9: 39,821,935 (GRCm39) |
T279A |
possibly damaging |
Het |
| Psg23 |
A |
T |
7: 18,344,345 (GRCm39) |
V370E |
probably benign |
Het |
| Rassf2 |
A |
T |
2: 131,838,353 (GRCm39) |
M311K |
possibly damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,025,614 (GRCm39) |
Y501H |
probably damaging |
Het |
| Rpl4 |
A |
G |
9: 64,083,488 (GRCm39) |
D179G |
possibly damaging |
Het |
| Scn2a |
T |
A |
2: 65,546,182 (GRCm39) |
I915N |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,356,965 (GRCm39) |
T160S |
possibly damaging |
Het |
| Slx4ip |
T |
G |
2: 136,909,942 (GRCm39) |
N242K |
possibly damaging |
Het |
| Spidr |
T |
A |
16: 15,865,945 (GRCm39) |
Q288L |
probably benign |
Het |
| Sun1 |
A |
T |
5: 139,216,918 (GRCm39) |
H255L |
possibly damaging |
Het |
| Tacc1 |
C |
T |
8: 25,665,233 (GRCm39) |
G51S |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,185,900 (GRCm39) |
N1179I |
possibly damaging |
Het |
| Tgfbrap1 |
T |
C |
1: 43,101,752 (GRCm39) |
Y349C |
probably damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,751,414 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
T |
C |
4: 65,532,736 (GRCm39) |
L431P |
probably damaging |
Het |
| Vmn1r35 |
A |
G |
6: 66,656,334 (GRCm39) |
L112S |
probably damaging |
Het |
| Vmn2r100 |
A |
C |
17: 19,742,583 (GRCm39) |
H319P |
probably damaging |
Het |
| Wdr20rt |
A |
G |
12: 65,274,039 (GRCm39) |
T328A |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,293 (GRCm39) |
Y413H |
probably benign |
Het |
|
| Other mutations in Lars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Lars1
|
APN |
18 |
42,362,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01340:Lars1
|
APN |
18 |
42,335,642 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01397:Lars1
|
APN |
18 |
42,361,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01510:Lars1
|
APN |
18 |
42,375,174 (GRCm39) |
missense |
probably benign |
|
|
IGL01542:Lars1
|
APN |
18 |
42,347,892 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01689:Lars1
|
APN |
18 |
42,350,014 (GRCm39) |
missense |
probably benign |
|
|
IGL01819:Lars1
|
APN |
18 |
42,335,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02598:Lars1
|
APN |
18 |
42,360,342 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02630:Lars1
|
APN |
18 |
42,390,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02973:Lars1
|
APN |
18 |
42,347,824 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03064:Lars1
|
APN |
18 |
42,354,636 (GRCm39) |
nonsense |
probably null |
|
|
IGL03081:Lars1
|
APN |
18 |
42,343,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03330:Lars1
|
APN |
18 |
42,353,009 (GRCm39) |
missense |
probably benign |
|
|
IGL03334:Lars1
|
APN |
18 |
42,354,571 (GRCm39) |
missense |
probably benign |
|
|
IGL03340:Lars1
|
APN |
18 |
42,361,715 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Lars1
|
UTSW |
18 |
42,335,762 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0321:Lars1
|
UTSW |
18 |
42,335,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0325:Lars1
|
UTSW |
18 |
42,383,967 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0391:Lars1
|
UTSW |
18 |
42,384,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0558:Lars1
|
UTSW |
18 |
42,347,902 (GRCm39) |
missense |
probably benign |
|
|
R0624:Lars1
|
UTSW |
18 |
42,375,849 (GRCm39) |
splice site |
probably benign |
|
|
R0881:Lars1
|
UTSW |
18 |
42,347,851 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0968:Lars1
|
UTSW |
18 |
42,351,648 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1457:Lars1
|
UTSW |
18 |
42,343,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Lars1
|
UTSW |
18 |
42,343,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Lars1
|
UTSW |
18 |
42,343,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Lars1
|
UTSW |
18 |
42,343,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Lars1
|
UTSW |
18 |
42,343,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Lars1
|
UTSW |
18 |
42,345,673 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1852:Lars1
|
UTSW |
18 |
42,345,673 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1868:Lars1
|
UTSW |
18 |
42,347,902 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1954:Lars1
|
UTSW |
18 |
42,343,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2277:Lars1
|
UTSW |
18 |
42,368,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3732:Lars1
|
UTSW |
18 |
42,345,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3732:Lars1
|
UTSW |
18 |
42,345,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3733:Lars1
|
UTSW |
18 |
42,345,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4208:Lars1
|
UTSW |
18 |
42,362,768 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4571:Lars1
|
UTSW |
18 |
42,361,295 (GRCm39) |
splice site |
probably null |
|
|
R5009:Lars1
|
UTSW |
18 |
42,354,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5033:Lars1
|
UTSW |
18 |
42,347,841 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5152:Lars1
|
UTSW |
18 |
42,361,842 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5208:Lars1
|
UTSW |
18 |
42,350,622 (GRCm39) |
missense |
probably benign |
|
|
R5219:Lars1
|
UTSW |
18 |
42,367,785 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5396:Lars1
|
UTSW |
18 |
42,350,024 (GRCm39) |
missense |
probably benign |
|
|
R5433:Lars1
|
UTSW |
18 |
42,384,363 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5580:Lars1
|
UTSW |
18 |
42,347,916 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5610:Lars1
|
UTSW |
18 |
42,390,156 (GRCm39) |
missense |
probably benign |
|
|
R5784:Lars1
|
UTSW |
18 |
42,352,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6249:Lars1
|
UTSW |
18 |
42,390,271 (GRCm39) |
splice site |
probably null |
|
|
R6334:Lars1
|
UTSW |
18 |
42,350,551 (GRCm39) |
missense |
probably benign |
|
|
R6618:Lars1
|
UTSW |
18 |
42,377,973 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6900:Lars1
|
UTSW |
18 |
42,367,675 (GRCm39) |
missense |
probably benign |
|
|
R6958:Lars1
|
UTSW |
18 |
42,369,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7390:Lars1
|
UTSW |
18 |
42,343,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7451:Lars1
|
UTSW |
18 |
42,335,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7618:Lars1
|
UTSW |
18 |
42,377,956 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7831:Lars1
|
UTSW |
18 |
42,350,627 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7971:Lars1
|
UTSW |
18 |
42,351,631 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8003:Lars1
|
UTSW |
18 |
42,354,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8082:Lars1
|
UTSW |
18 |
42,377,975 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8144:Lars1
|
UTSW |
18 |
42,351,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8181:Lars1
|
UTSW |
18 |
42,361,835 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8196:Lars1
|
UTSW |
18 |
42,343,166 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8309:Lars1
|
UTSW |
18 |
42,376,093 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9039:Lars1
|
UTSW |
18 |
42,390,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9101:Lars1
|
UTSW |
18 |
42,376,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9306:Lars1
|
UTSW |
18 |
42,358,884 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9500:Lars1
|
UTSW |
18 |
42,361,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Lars1
|
UTSW |
18 |
42,376,046 (GRCm39) |
nonsense |
probably null |
|
|
R9738:Lars1
|
UTSW |
18 |
42,350,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Lars1
|
UTSW |
18 |
42,361,125 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-04-16 |
Incidental Mutation