Incidental Mutation 'R5009:Lars1'
| ID |
390403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars1
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase 1 |
| Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
| MMRRC Submission |
042600-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5009 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 42354612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 778
(E778D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097590
AA Change: E778D
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: E778D
| 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 |
0.0643 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (91/91) |
| 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 |
|---|
| Afg2a |
T |
A |
3: 37,487,426 (GRCm39) |
|
probably benign |
Het |
| Aim2 |
T |
C |
1: 173,282,932 (GRCm39) |
Y5H |
probably damaging |
Het |
| Atosa |
G |
A |
9: 74,916,171 (GRCm39) |
E257K |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,517,714 (GRCm39) |
S375P |
possibly damaging |
Het |
| BC106179 |
C |
A |
16: 23,043,192 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
A |
1: 146,776,787 (GRCm39) |
N411K |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 29,801,289 (GRCm39) |
V1386A |
probably damaging |
Het |
| Cuzd1 |
T |
A |
7: 130,913,252 (GRCm39) |
Y455F |
probably damaging |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,093,665 (GRCm39) |
|
probably null |
Het |
| Dot1l |
G |
T |
10: 80,607,030 (GRCm39) |
R108L |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,128,968 (GRCm39) |
S1413P |
probably damaging |
Het |
| Eea1 |
C |
A |
10: 95,846,883 (GRCm39) |
R388S |
probably benign |
Het |
| Elavl1 |
C |
T |
8: 4,351,723 (GRCm39) |
R131Q |
probably benign |
Het |
| Erich6b |
A |
G |
14: 75,902,596 (GRCm39) |
T138A |
possibly damaging |
Het |
| Esr1 |
C |
T |
10: 4,662,394 (GRCm39) |
T4I |
probably damaging |
Het |
| Ets1 |
T |
C |
9: 32,644,295 (GRCm39) |
S152P |
possibly damaging |
Het |
| Fcsk |
C |
T |
8: 111,614,462 (GRCm39) |
C609Y |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,547 (GRCm39) |
V295A |
probably damaging |
Het |
| Gm13196 |
A |
G |
2: 4,705,149 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5965 |
T |
A |
16: 88,575,312 (GRCm39) |
Y162N |
probably benign |
Het |
| Gm7853 |
A |
T |
14: 35,811,466 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8126 |
C |
T |
14: 43,119,065 (GRCm39) |
A178V |
probably benign |
Het |
| Gpihbp1 |
A |
T |
15: 75,469,570 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,774,858 (GRCm39) |
T180A |
possibly damaging |
Het |
| Gsdme |
C |
T |
6: 50,222,992 (GRCm39) |
V108M |
possibly damaging |
Het |
| Gtpbp4 |
T |
C |
13: 9,039,102 (GRCm39) |
Y157C |
probably benign |
Het |
| Gvin3 |
A |
G |
7: 106,200,767 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep1 |
T |
A |
13: 42,312,229 (GRCm39) |
F1490I |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,459,168 (GRCm39) |
V773A |
probably benign |
Het |
| Kctd8 |
T |
A |
5: 69,268,076 (GRCm39) |
T345S |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,957,763 (GRCm39) |
S1243P |
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,298,712 (GRCm39) |
V99A |
possibly damaging |
Het |
| Map7 |
C |
T |
10: 20,137,664 (GRCm39) |
R279* |
probably null |
Het |
| Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,466,583 (GRCm39) |
D532G |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,719,877 (GRCm39) |
V597I |
probably benign |
Het |
| Necab1 |
A |
G |
4: 14,947,503 (GRCm39) |
|
probably benign |
Het |
| Nisch |
C |
T |
14: 30,909,186 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,013,531 (GRCm39) |
D573G |
probably benign |
Het |
| Noct |
C |
A |
3: 51,155,482 (GRCm39) |
N83K |
probably damaging |
Het |
| Or10am5 |
A |
G |
7: 6,517,546 (GRCm39) |
L294P |
probably damaging |
Het |
| Or1b1 |
C |
T |
2: 36,995,467 (GRCm39) |
R65H |
possibly damaging |
Het |
| Or2a12 |
C |
A |
6: 42,904,367 (GRCm39) |
D67E |
probably damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,435 (GRCm39) |
N264S |
probably benign |
Het |
| Or52n4b |
A |
G |
7: 108,144,055 (GRCm39) |
I106V |
probably benign |
Het |
| Or6b13 |
C |
T |
7: 139,781,751 (GRCm39) |
A311T |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 128,969,484 (GRCm39) |
H51R |
probably benign |
Het |
| Osgepl1 |
T |
A |
1: 53,357,339 (GRCm39) |
V167D |
probably damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,887,489 (GRCm39) |
E354G |
probably damaging |
Het |
| Pgghg |
A |
C |
7: 140,523,303 (GRCm39) |
D194A |
probably benign |
Het |
| Podnl1 |
A |
T |
8: 84,852,887 (GRCm39) |
H19L |
probably benign |
Het |
| Pold1 |
G |
T |
7: 44,183,326 (GRCm39) |
A977E |
probably benign |
Het |
| Poldip3 |
T |
C |
15: 83,017,395 (GRCm39) |
T227A |
probably damaging |
Het |
| Prss43 |
A |
G |
9: 110,656,489 (GRCm39) |
S59G |
possibly damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,582,731 (GRCm39) |
I526N |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,184,032 (GRCm39) |
S1615P |
possibly damaging |
Het |
| Ptpro |
A |
G |
6: 137,354,130 (GRCm39) |
K169E |
probably damaging |
Het |
| Rab15 |
T |
C |
12: 76,847,341 (GRCm39) |
E114G |
probably damaging |
Het |
| Rcvrn |
A |
G |
11: 67,586,550 (GRCm39) |
E103G |
probably benign |
Het |
| Repin1 |
T |
A |
6: 48,571,779 (GRCm39) |
|
probably benign |
Het |
| Rita1 |
T |
A |
5: 120,749,448 (GRCm39) |
K88N |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,877,239 (GRCm39) |
V433A |
probably benign |
Het |
| Runx1t1 |
T |
C |
4: 13,865,231 (GRCm39) |
I314T |
possibly damaging |
Het |
| Serpinb9c |
A |
C |
13: 33,338,414 (GRCm39) |
S190A |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,623,916 (GRCm39) |
H300Q |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,297,157 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
T |
C |
10: 88,745,516 (GRCm39) |
S375P |
probably benign |
Het |
| Spns3 |
C |
A |
11: 72,428,027 (GRCm39) |
W251L |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,067,789 (GRCm39) |
N2072S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,074,016 (GRCm39) |
V1351A |
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,030,523 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,706,478 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
G |
15: 66,568,435 (GRCm39) |
D1374G |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,083,567 (GRCm39) |
S337P |
probably damaging |
Het |
| Trp63 |
A |
T |
16: 25,686,977 (GRCm39) |
D303V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,683,250 (GRCm39) |
|
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
T |
G |
7: 86,451,015 (GRCm39) |
D300E |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,365 (GRCm39) |
N621K |
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 |
|
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 |
|
|
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'- CAGCAACTACTGTTATCACTTAACT -3'
(R):5'- GCATGTACCCAGTTAAATGCATT -3'
Sequencing Primer
(F):5'- AGTGACTGCCATGGCATA -3'
(R):5'- TCCCAAGTGCTGGCCTTAAAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation