Incidental Mutation 'R3732:Lars1'
| ID |
500806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars1
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase 1 |
| Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
| MMRRC Submission |
040720-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3732 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42345667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1003
(E1003G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097590
AA Change: E1003G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: E1003G
| 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 |
0.0664 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
93% (56/60) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Aacs |
C |
T |
5: 125,583,326 (GRCm39) |
T294M |
probably damaging |
Het |
| Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
| Adgrf4 |
C |
T |
17: 42,983,472 (GRCm39) |
G70E |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,942,793 (GRCm39) |
H1474Q |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,075 (GRCm39) |
I1578M |
probably damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,227,972 (GRCm39) |
G547D |
probably damaging |
Het |
| Ambra1 |
G |
A |
2: 91,640,476 (GRCm39) |
R635H |
probably damaging |
Het |
| Araf |
TACACACACACACACACA |
TACACACACACACACA |
X: 20,716,465 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
4: 140,308,930 (GRCm39) |
|
probably benign |
Het |
| Bcl7b |
A |
G |
5: 135,209,767 (GRCm39) |
T141A |
probably benign |
Het |
| Calm5 |
T |
A |
13: 3,904,337 (GRCm39) |
N10K |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,828,356 (GRCm39) |
R1123G |
probably damaging |
Het |
| Cfap97d1 |
C |
T |
11: 101,879,278 (GRCm39) |
Q17* |
probably null |
Het |
| Chrna3 |
T |
C |
9: 54,923,178 (GRCm39) |
K210R |
probably benign |
Het |
| Ciz1 |
A |
G |
2: 32,257,495 (GRCm39) |
N180S |
possibly damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,888,813 (GRCm39) |
A1162V |
possibly damaging |
Het |
| Cox5b |
C |
T |
1: 36,732,341 (GRCm39) |
P114L |
probably damaging |
Het |
| Cpsf2 |
T |
C |
12: 101,953,567 (GRCm39) |
I199T |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
| D1Pas1 |
C |
A |
1: 186,700,294 (GRCm39) |
S74R |
probably benign |
Het |
| Ddx4 |
T |
A |
13: 112,748,516 (GRCm39) |
I487F |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,409,268 (GRCm39) |
E3562V |
possibly damaging |
Het |
| Dpf3 |
T |
C |
12: 83,316,281 (GRCm39) |
D330G |
possibly damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
| Eeig1 |
G |
A |
2: 32,456,304 (GRCm39) |
S322N |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam111a |
T |
C |
19: 12,564,914 (GRCm39) |
L221P |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,406,306 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Fbxl21 |
T |
A |
13: 56,674,830 (GRCm39) |
H60Q |
probably benign |
Het |
| Fbxw7 |
A |
C |
3: 84,833,014 (GRCm39) |
K19Q |
possibly damaging |
Het |
| Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
| Gria4 |
C |
T |
9: 4,513,295 (GRCm39) |
M271I |
probably benign |
Het |
| Herc1 |
C |
T |
9: 66,352,922 (GRCm39) |
T2136I |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,233,135 (GRCm39) |
F1866S |
probably benign |
Het |
| Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,110,481 (GRCm39) |
F537I |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,284,198 (GRCm39) |
D533G |
probably damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,695,733 (GRCm39) |
K22E |
probably benign |
Het |
| Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
| Layn |
T |
A |
9: 50,970,844 (GRCm39) |
N233I |
probably damaging |
Het |
| Ldhb-ps |
T |
G |
19: 21,915,616 (GRCm39) |
|
noncoding transcript |
Het |
| Lgi1 |
T |
C |
19: 38,294,694 (GRCm39) |
Y465H |
probably damaging |
Het |
| Lrig1 |
C |
T |
6: 94,588,557 (GRCm39) |
A531T |
possibly damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,996,638 (GRCm39) |
|
probably benign |
Het |
| Lsamp |
T |
A |
16: 41,964,935 (GRCm39) |
L264H |
probably damaging |
Het |
| Mthfd2 |
T |
C |
6: 83,290,457 (GRCm39) |
E39G |
probably damaging |
Het |
| Mtx2 |
C |
A |
2: 74,677,606 (GRCm39) |
A22E |
probably damaging |
Het |
| Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,781,574 (GRCm39) |
Y257F |
probably benign |
Het |
| Ola1 |
G |
C |
2: 72,987,204 (GRCm39) |
R143G |
probably damaging |
Het |
| Or14c44 |
T |
G |
7: 86,061,841 (GRCm39) |
I90M |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,712,097 (GRCm39) |
I656T |
probably damaging |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,709,240 (GRCm39) |
S692G |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,797,176 (GRCm39) |
T727A |
probably benign |
Het |
| Pde9a |
A |
G |
17: 31,667,401 (GRCm39) |
E3G |
possibly damaging |
Het |
| Prl8a1 |
T |
C |
13: 27,763,716 (GRCm39) |
E37G |
probably damaging |
Het |
| Rlf |
C |
T |
4: 121,005,521 (GRCm39) |
G1153D |
probably benign |
Het |
| Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
| Sfxn5 |
T |
C |
6: 85,276,258 (GRCm39) |
|
probably benign |
Het |
| Siah2 |
A |
G |
3: 58,583,671 (GRCm39) |
V205A |
probably damaging |
Het |
| Spindoc |
A |
C |
19: 7,351,666 (GRCm39) |
L202R |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,733 (GRCm39) |
D251E |
probably damaging |
Het |
| Srp68 |
T |
A |
11: 116,164,782 (GRCm39) |
K51* |
probably null |
Het |
| Ssbp2 |
T |
C |
13: 91,672,726 (GRCm39) |
Y29H |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,426,864 (GRCm39) |
V231A |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
| Tecta |
C |
T |
9: 42,303,402 (GRCm39) |
V77M |
possibly damaging |
Het |
| Trpc3 |
A |
T |
3: 36,692,708 (GRCm39) |
D761E |
probably benign |
Het |
| Tubb2a |
T |
C |
13: 34,259,247 (GRCm39) |
E181G |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
C |
A |
1: 188,676,957 (GRCm39) |
N4756K |
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Wapl |
G |
A |
14: 34,458,721 (GRCm39) |
V928I |
probably damaging |
Het |
| Zfand3 |
A |
G |
17: 30,411,630 (GRCm39) |
K130R |
probably benign |
Het |
| Zfp934 |
A |
T |
13: 62,665,599 (GRCm39) |
H347Q |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2017-12-01 |
Incidental Mutation