Incidental Mutation 'R9101:Lars1'
ID |
720394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lars1
|
Ensembl Gene |
ENSMUSG00000024493 |
Gene Name |
leucyl-tRNA synthetase 1 |
Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
MMRRC Submission |
068915-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9101 (G1)
|
Quality Score |
46.0072 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 42376942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 205
(R205C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
AlphaFold |
Q8BMJ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097590
AA Change: R205C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095197 Gene: ENSMUSG00000024493 AA Change: R205C
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (59/60) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
T |
C |
12: 113,455,376 (GRCm39) |
V731A |
probably benign |
Het |
Adamts7 |
T |
C |
9: 90,071,794 (GRCm39) |
|
probably null |
Het |
Afdn |
T |
C |
17: 14,043,706 (GRCm39) |
V388A |
probably damaging |
Het |
Alg3 |
A |
G |
16: 20,427,599 (GRCm39) |
Y113H |
possibly damaging |
Het |
Aox1 |
C |
T |
1: 58,371,796 (GRCm39) |
P820L |
probably benign |
Het |
Avil |
A |
G |
10: 126,852,873 (GRCm39) |
D731G |
probably benign |
Het |
Blvra |
C |
T |
2: 126,927,890 (GRCm39) |
L47F |
probably damaging |
Het |
Bmerb1 |
T |
A |
16: 13,867,259 (GRCm39) |
I39N |
probably damaging |
Het |
Ccdc85c |
C |
A |
12: 108,240,917 (GRCm39) |
R159L |
unknown |
Het |
Clcn2 |
T |
C |
16: 20,525,979 (GRCm39) |
D797G |
probably benign |
Het |
Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
Dclre1a |
A |
T |
19: 56,532,738 (GRCm39) |
F619I |
possibly damaging |
Het |
Dnajb1 |
C |
A |
8: 84,335,119 (GRCm39) |
D53E |
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,852,839 (GRCm39) |
D89G |
probably damaging |
Het |
Gck |
A |
G |
11: 5,856,516 (GRCm39) |
Y214H |
probably damaging |
Het |
Gm9507 |
A |
G |
10: 77,647,650 (GRCm39) |
S10P |
unknown |
Het |
Hacd2 |
G |
A |
16: 34,920,156 (GRCm39) |
V138I |
probably benign |
Het |
Hhip |
A |
T |
8: 80,770,591 (GRCm39) |
V272D |
probably damaging |
Het |
Hoga1 |
A |
C |
19: 42,048,347 (GRCm39) |
T72P |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Kif21b |
G |
A |
1: 136,078,893 (GRCm39) |
G414S |
probably damaging |
Het |
Klk1b5 |
T |
A |
7: 43,500,205 (GRCm39) |
D264E |
probably benign |
Het |
Ly6a |
A |
T |
15: 74,869,419 (GRCm39) |
L12Q |
probably null |
Het |
Mastl |
A |
G |
2: 23,008,449 (GRCm39) |
*866Q |
probably null |
Het |
Mpzl3 |
T |
A |
9: 44,981,983 (GRCm39) |
M217K |
possibly damaging |
Het |
Mroh2b |
T |
A |
15: 4,929,935 (GRCm39) |
M7K |
probably benign |
Het |
Mtarc2 |
T |
A |
1: 184,554,687 (GRCm39) |
R273W |
probably null |
Het |
Nefh |
A |
G |
11: 4,890,925 (GRCm39) |
S565P |
probably damaging |
Het |
Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
Nsd1 |
C |
T |
13: 55,461,359 (GRCm39) |
L2632F |
|
Het |
Or10d1 |
T |
A |
9: 39,483,805 (GRCm39) |
Y250F |
probably benign |
Het |
Or1a1b |
C |
T |
11: 74,097,322 (GRCm39) |
C240Y |
probably damaging |
Het |
Or4a71 |
A |
T |
2: 89,358,721 (GRCm39) |
I11N |
possibly damaging |
Het |
Or51ac3 |
A |
T |
7: 103,213,680 (GRCm39) |
F269I |
possibly damaging |
Het |
Or51r1 |
T |
C |
7: 102,228,137 (GRCm39) |
V145A |
probably benign |
Het |
Or5m10b |
A |
G |
2: 85,694,523 (GRCm39) |
|
probably benign |
Het |
Or5w18 |
T |
C |
2: 87,632,924 (GRCm39) |
Y60H |
probably damaging |
Het |
Pcdhga6 |
T |
C |
18: 37,841,393 (GRCm39) |
V371A |
possibly damaging |
Het |
Pdss2 |
A |
G |
10: 43,269,945 (GRCm39) |
K263E |
possibly damaging |
Het |
Phf3 |
C |
T |
1: 30,843,026 (GRCm39) |
A1978T |
possibly damaging |
Het |
Phykpl |
C |
A |
11: 51,483,741 (GRCm39) |
T207K |
probably benign |
Het |
Pkd2 |
T |
A |
5: 104,628,230 (GRCm39) |
C435S |
probably damaging |
Het |
Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
Pramel52-ps |
G |
A |
5: 94,531,899 (GRCm39) |
C261Y |
probably damaging |
Het |
Prkra |
T |
A |
2: 76,478,184 (GRCm39) |
H6L |
probably benign |
Het |
Prpf39 |
A |
G |
12: 65,090,078 (GRCm39) |
K131E |
probably damaging |
Het |
Prpf40a |
A |
G |
2: 53,035,255 (GRCm39) |
V762A |
probably benign |
Het |
Prr27 |
C |
T |
5: 87,991,330 (GRCm39) |
T314I |
probably damaging |
Het |
Ptges3 |
A |
G |
10: 127,907,998 (GRCm39) |
D116G |
possibly damaging |
Het |
Rab11fip5 |
G |
T |
6: 85,317,675 (GRCm39) |
F1071L |
probably benign |
Het |
Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Slc45a3 |
T |
C |
1: 131,905,175 (GRCm39) |
V66A |
possibly damaging |
Het |
Spata31e5 |
T |
A |
1: 28,815,740 (GRCm39) |
D764V |
probably benign |
Het |
Ten1 |
A |
G |
11: 116,096,562 (GRCm39) |
Y72C |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,745,186 (GRCm39) |
L1125S |
probably damaging |
Het |
Thpo |
T |
A |
16: 20,544,557 (GRCm39) |
I159F |
possibly damaging |
Het |
Tmppe |
T |
C |
9: 114,234,309 (GRCm39) |
S203P |
probably damaging |
Het |
Ttc23l |
A |
T |
15: 10,537,661 (GRCm39) |
I203N |
probably benign |
Het |
Vars2 |
A |
G |
17: 35,969,980 (GRCm39) |
L803P |
possibly damaging |
Het |
Vmn2r110 |
T |
A |
17: 20,794,471 (GRCm39) |
I733F |
|
Het |
Xxylt1 |
T |
C |
16: 30,899,745 (GRCm39) |
N137D |
possibly damaging |
Het |
Zc3h13 |
G |
A |
14: 75,561,042 (GRCm39) |
R544Q |
unknown |
Het |
Zfhx4 |
C |
T |
3: 5,477,198 (GRCm39) |
T3271I |
probably benign |
Het |
Zfp943 |
T |
A |
17: 22,212,392 (GRCm39) |
C493S |
possibly damaging |
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 |
IGL02142:Lars1
|
APN |
18 |
42,360,345 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGACACATGTACTGAACTCTAAGGC -3'
(R):5'- ACACCTGACTCATAAGAATCCTTG -3'
Sequencing Primer
(F):5'- TGAACTCTAAGGCAAGAATTATCATG -3'
(R):5'- GCACTGACTGCTCTTCTAGAGGAC -3'
|
Posted On |
2022-08-03 |