Incidental Mutation 'R6334:Lars1'
ID |
510734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lars1
|
Ensembl Gene |
ENSMUSG00000024493 |
Gene Name |
leucyl-tRNA synthetase 1 |
Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
MMRRC Submission |
044488-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6334 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 42350551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 919
(M919I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
AlphaFold |
Q8BMJ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097590
AA Change: M919I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095197 Gene: ENSMUSG00000024493 AA Change: M919I
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 |
|
Meta Mutation Damage Score |
0.0610 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (64/64) |
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 |
2810021J22Rik |
T |
A |
11: 58,770,940 (GRCm39) |
S141T |
probably benign |
Het |
Afap1l2 |
A |
G |
19: 56,906,408 (GRCm39) |
|
probably null |
Het |
Aox1 |
C |
T |
1: 58,346,566 (GRCm39) |
Q567* |
probably null |
Het |
Aqp4 |
T |
A |
18: 15,526,648 (GRCm39) |
M278L |
probably benign |
Het |
Atp23 |
A |
C |
10: 126,723,538 (GRCm39) |
L188R |
probably benign |
Het |
Catsperg1 |
C |
T |
7: 28,905,782 (GRCm39) |
G215D |
probably benign |
Het |
Cavin4 |
T |
C |
4: 48,663,824 (GRCm39) |
V68A |
possibly damaging |
Het |
Ccl4 |
T |
C |
11: 83,553,504 (GRCm39) |
S6P |
unknown |
Het |
Cfap46 |
T |
C |
7: 139,260,747 (GRCm39) |
E117G |
probably damaging |
Het |
Cfhr4 |
A |
G |
1: 139,701,662 (GRCm39) |
|
probably null |
Het |
Chek1 |
A |
G |
9: 36,625,788 (GRCm39) |
S286P |
possibly damaging |
Het |
Cntn4 |
G |
A |
6: 106,321,747 (GRCm39) |
V35I |
probably benign |
Het |
Cntn4 |
C |
A |
6: 106,483,153 (GRCm39) |
P236Q |
probably benign |
Het |
Cyp2d40 |
C |
A |
15: 82,645,753 (GRCm39) |
G84V |
probably benign |
Het |
Dnah12 |
A |
T |
14: 26,427,989 (GRCm39) |
H205L |
possibly damaging |
Het |
Dock1 |
G |
A |
7: 134,453,305 (GRCm39) |
V845I |
probably benign |
Het |
Drg1 |
T |
C |
11: 3,216,292 (GRCm39) |
K7E |
possibly damaging |
Het |
Eloa |
G |
A |
4: 135,737,133 (GRCm39) |
P488S |
probably damaging |
Het |
Evi5 |
G |
A |
5: 107,968,387 (GRCm39) |
R187* |
probably null |
Het |
Fam53a |
T |
A |
5: 33,758,219 (GRCm39) |
L301F |
probably damaging |
Het |
Fmnl3 |
T |
C |
15: 99,235,534 (GRCm39) |
K63E |
probably damaging |
Het |
Gast |
C |
A |
11: 100,227,438 (GRCm39) |
Q44K |
probably benign |
Het |
Gng10 |
T |
A |
4: 59,035,257 (GRCm39) |
V7E |
probably benign |
Het |
Gtf3c5 |
G |
A |
2: 28,460,474 (GRCm39) |
T375I |
probably benign |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Hspa14 |
A |
T |
2: 3,490,109 (GRCm39) |
|
probably null |
Het |
Kcna3 |
T |
C |
3: 106,943,740 (GRCm39) |
M1T |
probably null |
Het |
Kcnj15 |
T |
G |
16: 95,097,095 (GRCm39) |
L239R |
probably damaging |
Het |
Klhl2 |
G |
T |
8: 65,212,842 (GRCm39) |
D232E |
probably benign |
Het |
Lamb3 |
A |
T |
1: 193,017,782 (GRCm39) |
I888F |
probably damaging |
Het |
Lfng |
T |
C |
5: 140,598,522 (GRCm39) |
V247A |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 41,679,045 (GRCm39) |
A16T |
probably benign |
Het |
Mamdc2 |
A |
T |
19: 23,341,270 (GRCm39) |
I235N |
probably damaging |
Het |
Map9 |
T |
A |
3: 82,290,612 (GRCm39) |
L492Q |
probably damaging |
Het |
Mcpt8 |
A |
G |
14: 56,322,604 (GRCm39) |
V14A |
possibly damaging |
Het |
Myo1b |
T |
C |
1: 51,807,810 (GRCm39) |
K823R |
probably null |
Het |
Nbea |
G |
T |
3: 55,944,570 (GRCm39) |
T598K |
probably damaging |
Het |
Nrcam |
C |
A |
12: 44,619,083 (GRCm39) |
H877N |
probably benign |
Het |
Nrxn2 |
T |
C |
19: 6,581,322 (GRCm39) |
|
probably null |
Het |
Nwd2 |
A |
T |
5: 63,957,596 (GRCm39) |
I309F |
possibly damaging |
Het |
Phyhd1 |
G |
A |
2: 30,164,736 (GRCm39) |
|
probably null |
Het |
Pkp2 |
C |
T |
16: 16,043,933 (GRCm39) |
T229I |
probably damaging |
Het |
Plagl2 |
G |
A |
2: 153,074,611 (GRCm39) |
P97S |
probably benign |
Het |
Plekhh2 |
C |
A |
17: 84,874,294 (GRCm39) |
N526K |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,410,261 (GRCm39) |
L1217P |
probably benign |
Het |
Polr3e |
T |
C |
7: 120,527,222 (GRCm39) |
S67P |
possibly damaging |
Het |
Postn |
A |
G |
3: 54,292,703 (GRCm39) |
K757E |
probably benign |
Het |
Prpf39 |
T |
A |
12: 65,089,587 (GRCm39) |
|
probably null |
Het |
Ptprg |
C |
T |
14: 12,166,832 (GRCm38) |
T745I |
probably damaging |
Het |
Pxylp1 |
C |
G |
9: 96,707,307 (GRCm39) |
A292P |
probably damaging |
Het |
Rpl35 |
G |
T |
2: 38,891,754 (GRCm39) |
D82E |
possibly damaging |
Het |
Slc9a1 |
G |
A |
4: 133,149,519 (GRCm39) |
V782I |
possibly damaging |
Het |
Syn2 |
T |
A |
6: 115,240,875 (GRCm39) |
M415K |
possibly damaging |
Het |
Tmem117 |
A |
C |
15: 94,909,324 (GRCm39) |
I246L |
probably benign |
Het |
Tmem221 |
A |
T |
8: 72,011,428 (GRCm39) |
V9E |
probably damaging |
Het |
Trav13-5 |
A |
G |
14: 54,033,399 (GRCm39) |
T103A |
probably damaging |
Het |
Ubxn7 |
T |
A |
16: 32,191,007 (GRCm39) |
|
probably null |
Het |
Vmn2r101 |
G |
T |
17: 19,810,112 (GRCm39) |
M299I |
possibly damaging |
Het |
Vmn2r103 |
T |
A |
17: 20,014,344 (GRCm39) |
S379T |
probably damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,761,440 (GRCm39) |
N639S |
probably benign |
Het |
Wdr26 |
T |
C |
1: 181,030,771 (GRCm39) |
|
|
Het |
Zfp109 |
T |
A |
7: 23,928,308 (GRCm39) |
Y367F |
probably damaging |
Het |
Zfp143 |
G |
A |
7: 109,685,338 (GRCm39) |
C389Y |
probably damaging |
Het |
Zfp553 |
G |
T |
7: 126,836,064 (GRCm39) |
|
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCTCCACACCATACATGC -3'
(R):5'- ACGATTACAGATGGTAGCTGTG -3'
Sequencing Primer
(F):5'- CATGCTCCAGACCTTTAAGTTAGAAC -3'
(R):5'- TGGATGAGTCCTTGATCC -3'
|
Posted On |
2018-04-02 |