Incidental Mutation 'R0165:Lars1'
ID |
24150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lars1
|
Ensembl Gene |
ENSMUSG00000024493 |
Gene Name |
leucyl-tRNA synthetase 1 |
Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
MMRRC Submission |
038441-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0165 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
18 |
Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 42335762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1118
(M1118K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
AlphaFold |
Q8BMJ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097590
AA Change: M1118K
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000095197 Gene: ENSMUSG00000024493 AA Change: M1118K
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 |
0.5350 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.2%
- 20x: 91.4%
|
Validation Efficiency |
96% (81/84) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,213,924 (GRCm39) |
I717T |
possibly damaging |
Het |
6430571L13Rik |
A |
G |
9: 107,223,383 (GRCm39) |
|
probably benign |
Het |
Abca15 |
T |
A |
7: 119,950,126 (GRCm39) |
|
probably benign |
Het |
Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
Adgrl2 |
A |
G |
3: 148,558,499 (GRCm39) |
|
probably benign |
Het |
Agap3 |
A |
G |
5: 24,684,743 (GRCm39) |
T544A |
probably damaging |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,517,445 (GRCm39) |
S459P |
probably benign |
Het |
Armh4 |
A |
G |
14: 50,011,243 (GRCm39) |
S155P |
probably benign |
Het |
Ascc3 |
T |
A |
10: 50,718,223 (GRCm39) |
|
probably null |
Het |
Brd1 |
T |
C |
15: 88,613,980 (GRCm39) |
N305S |
probably damaging |
Het |
Catip |
T |
A |
1: 74,407,628 (GRCm39) |
L320Q |
possibly damaging |
Het |
Cplane1 |
G |
A |
15: 8,245,866 (GRCm39) |
V1413M |
probably damaging |
Het |
Cttnbp2 |
G |
A |
6: 18,435,409 (GRCm39) |
Q150* |
probably null |
Het |
Cyp2d22 |
T |
G |
15: 82,257,481 (GRCm39) |
N228T |
probably benign |
Het |
Dapk1 |
T |
C |
13: 60,909,407 (GRCm39) |
V1340A |
probably benign |
Het |
Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
Ddhd1 |
G |
A |
14: 45,833,049 (GRCm39) |
T849M |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 72,998,306 (GRCm39) |
S3987P |
probably benign |
Het |
Dst |
C |
A |
1: 34,193,727 (GRCm39) |
|
probably benign |
Het |
Epha2 |
T |
C |
4: 141,049,203 (GRCm39) |
|
probably null |
Het |
Ern2 |
T |
C |
7: 121,779,002 (GRCm39) |
T281A |
probably benign |
Het |
Extl1 |
A |
G |
4: 134,085,014 (GRCm39) |
F652S |
probably damaging |
Het |
Gckr |
A |
G |
5: 31,484,292 (GRCm39) |
S541G |
possibly damaging |
Het |
Gdap1l1 |
A |
G |
2: 163,293,419 (GRCm39) |
|
probably null |
Het |
Gm7535 |
T |
C |
17: 18,131,437 (GRCm39) |
|
probably benign |
Het |
Gmps |
T |
A |
3: 63,901,375 (GRCm39) |
I398N |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,917,414 (GRCm39) |
V1556A |
probably benign |
Het |
Il3ra |
T |
A |
14: 14,350,967 (GRCm38) |
N283K |
probably benign |
Het |
Ist1 |
A |
G |
8: 110,401,998 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
T |
18: 12,657,867 (GRCm39) |
I1934F |
probably damaging |
Het |
Lpin2 |
C |
T |
17: 71,553,514 (GRCm39) |
S846L |
probably damaging |
Het |
Lrrc4b |
C |
A |
7: 44,111,739 (GRCm39) |
T537K |
probably damaging |
Het |
Ltn1 |
G |
A |
16: 87,202,407 (GRCm39) |
|
probably benign |
Het |
Meiob |
A |
G |
17: 25,054,135 (GRCm39) |
T401A |
probably benign |
Het |
Mettl21e |
G |
A |
1: 44,250,283 (GRCm39) |
T41M |
probably damaging |
Het |
Miga1 |
C |
T |
3: 151,996,480 (GRCm39) |
E323K |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,198,907 (GRCm39) |
|
probably null |
Het |
Or5p62 |
T |
C |
7: 107,771,882 (GRCm39) |
D23G |
probably benign |
Het |
Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
Parp6 |
T |
C |
9: 59,540,208 (GRCm39) |
Y274H |
probably damaging |
Het |
Prom2 |
A |
T |
2: 127,381,434 (GRCm39) |
|
probably benign |
Het |
Prune2 |
T |
A |
19: 17,099,974 (GRCm39) |
M1826K |
probably benign |
Het |
Qki |
T |
A |
17: 10,457,892 (GRCm39) |
D159V |
probably damaging |
Het |
Rab12 |
A |
T |
17: 66,807,312 (GRCm39) |
I139N |
probably damaging |
Het |
Rab25 |
T |
A |
3: 88,455,362 (GRCm39) |
E7D |
probably benign |
Het |
Rala |
A |
T |
13: 18,063,174 (GRCm39) |
V139E |
probably benign |
Het |
Ralgapa2 |
A |
G |
2: 146,230,407 (GRCm39) |
|
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,800,804 (GRCm39) |
Y89N |
probably damaging |
Het |
Rho |
A |
T |
6: 115,909,188 (GRCm39) |
I75F |
probably damaging |
Het |
Slc38a4 |
C |
A |
15: 96,906,830 (GRCm39) |
A303S |
probably benign |
Het |
Slc6a15 |
A |
G |
10: 103,245,670 (GRCm39) |
D551G |
probably null |
Het |
Smyd3 |
T |
C |
1: 178,871,437 (GRCm39) |
N314S |
probably benign |
Het |
Speer4f1 |
T |
A |
5: 17,684,512 (GRCm39) |
L180* |
probably null |
Het |
Stat6 |
T |
C |
10: 127,493,096 (GRCm39) |
V576A |
probably damaging |
Het |
Strn |
T |
C |
17: 78,984,803 (GRCm39) |
D127G |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 4,983,096 (GRCm39) |
R8610G |
probably benign |
Het |
Tbc1d7 |
A |
C |
13: 43,306,678 (GRCm39) |
|
probably null |
Het |
Tcf3 |
C |
T |
10: 80,248,831 (GRCm39) |
R548Q |
probably damaging |
Het |
Tlr9 |
C |
A |
9: 106,103,286 (GRCm39) |
A859D |
probably benign |
Het |
Tmem106c |
T |
A |
15: 97,866,020 (GRCm39) |
|
probably benign |
Het |
Tmprss11c |
A |
T |
5: 86,379,786 (GRCm39) |
|
probably benign |
Het |
Tnfsf18 |
A |
G |
1: 161,322,300 (GRCm39) |
R7G |
probably benign |
Het |
Tnrc6b |
T |
A |
15: 80,742,871 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
T |
2: 126,639,433 (GRCm39) |
F1684I |
probably damaging |
Het |
Ttbk1 |
C |
A |
17: 46,789,864 (GRCm39) |
R133L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,551,686 (GRCm39) |
S22962P |
probably damaging |
Het |
Ube2q1 |
T |
A |
3: 89,683,460 (GRCm39) |
L135Q |
probably damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vwce |
T |
C |
19: 10,637,337 (GRCm39) |
|
probably benign |
Het |
Wdhd1 |
A |
G |
14: 47,504,525 (GRCm39) |
S350P |
probably benign |
Het |
Zbtb21 |
A |
G |
16: 97,752,604 (GRCm39) |
S560P |
probably 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCGACTCTCCAATTTGCATGAGC -3'
(R):5'- TCACACTCCGAATGTGTCCCACAG -3'
Sequencing Primer
(F):5'- GCTCAGTGAACCAGGTAGACC -3'
(R):5'- TGTCCCACAGGACCTGC -3'
|
Posted On |
2013-04-16 |