Incidental Mutation 'R0558:Lars1'
| ID |
45770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars1
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase 1 |
| Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
| MMRRC Submission |
038750-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0558 (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 42347902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 974
(I974L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097590
AA Change: I974L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: I974L
| 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 |
0.0577 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (80/80) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,789,163 (GRCm39) |
G273R |
probably benign |
Het |
| Adamts10 |
T |
C |
17: 33,769,583 (GRCm39) |
V935A |
probably benign |
Het |
| Anapc15-ps |
T |
C |
10: 95,508,983 (GRCm39) |
D90G |
probably damaging |
Het |
| Atic |
T |
A |
1: 71,602,947 (GRCm39) |
V107E |
probably benign |
Het |
| Atp4b |
T |
C |
8: 13,443,523 (GRCm39) |
T52A |
possibly damaging |
Het |
| Cacna1h |
C |
T |
17: 25,600,524 (GRCm39) |
A1606T |
probably damaging |
Het |
| Cacng6 |
T |
A |
7: 3,483,324 (GRCm39) |
Y217* |
probably null |
Het |
| Cc2d2a |
T |
G |
5: 43,881,729 (GRCm39) |
|
probably benign |
Het |
| Cd226 |
T |
A |
18: 89,225,338 (GRCm39) |
H78Q |
probably benign |
Het |
| Cers3 |
A |
G |
7: 66,433,166 (GRCm39) |
D161G |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 94,002,017 (GRCm39) |
H37R |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,667,230 (GRCm39) |
V376A |
probably damaging |
Het |
| Chek1 |
T |
A |
9: 36,623,411 (GRCm39) |
N421I |
possibly damaging |
Het |
| Cibar1 |
T |
C |
4: 12,164,095 (GRCm39) |
D248G |
probably damaging |
Het |
| Cma2 |
T |
C |
14: 56,210,249 (GRCm39) |
Y45H |
probably damaging |
Het |
| Cmas |
C |
A |
6: 142,720,970 (GRCm39) |
Y401* |
probably null |
Het |
| Cyp2j8 |
A |
T |
4: 96,332,871 (GRCm39) |
S492T |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,430,465 (GRCm39) |
S358P |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,079,151 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
C |
5: 110,832,933 (GRCm39) |
|
probably benign |
Het |
| Fam209 |
T |
A |
2: 172,314,758 (GRCm39) |
N82K |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,221,056 (GRCm39) |
Y20N |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,765,379 (GRCm39) |
D924G |
probably benign |
Het |
| Gm10787 |
T |
C |
10: 76,857,850 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11568 |
A |
G |
11: 99,748,872 (GRCm39) |
R26G |
unknown |
Het |
| Hivep3 |
T |
G |
4: 119,953,763 (GRCm39) |
L693R |
probably damaging |
Het |
| Hook1 |
A |
G |
4: 95,881,449 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
A |
C |
9: 85,619,591 (GRCm39) |
D116E |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,718,288 (GRCm39) |
T927I |
possibly damaging |
Het |
| Irx1 |
T |
G |
13: 72,107,747 (GRCm39) |
S312R |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,659,570 (GRCm39) |
Y441H |
probably benign |
Het |
| Itsn1 |
A |
G |
16: 91,696,511 (GRCm39) |
D38G |
possibly damaging |
Het |
| Kat6b |
G |
T |
14: 21,719,489 (GRCm39) |
E1280D |
probably benign |
Het |
| Kcnk10 |
T |
A |
12: 98,402,560 (GRCm39) |
Y293F |
possibly damaging |
Het |
| Krt74 |
T |
A |
15: 101,669,398 (GRCm39) |
|
noncoding transcript |
Het |
| Limch1 |
A |
G |
5: 67,126,498 (GRCm39) |
D42G |
probably damaging |
Het |
| Mau2 |
G |
C |
8: 70,495,082 (GRCm39) |
T85R |
probably damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,612 (GRCm39) |
I393T |
probably benign |
Het |
| Mpl |
A |
C |
4: 118,301,217 (GRCm39) |
S541R |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,321,564 (GRCm39) |
S754P |
possibly damaging |
Het |
| Or4c125 |
A |
G |
2: 89,170,580 (GRCm39) |
L22P |
probably benign |
Het |
| Or5bw2 |
T |
C |
7: 6,573,652 (GRCm39) |
Y221H |
possibly damaging |
Het |
| Or5d41 |
A |
G |
2: 88,054,818 (GRCm39) |
V186A |
possibly damaging |
Het |
| Or8g18 |
T |
A |
9: 39,149,496 (GRCm39) |
T75S |
probably damaging |
Het |
| P2rx7 |
A |
T |
5: 122,811,861 (GRCm39) |
I391F |
possibly damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,807,016 (GRCm39) |
|
probably null |
Het |
| Pcdh8 |
T |
C |
14: 80,007,516 (GRCm39) |
D349G |
probably damaging |
Het |
| Pias1 |
A |
G |
9: 62,789,291 (GRCm39) |
S639P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,347,820 (GRCm39) |
I232F |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,673,797 (GRCm39) |
R995Q |
probably damaging |
Het |
| Pnliprp2 |
T |
A |
19: 58,762,519 (GRCm39) |
S375T |
probably benign |
Het |
| Prkar1b |
C |
T |
5: 139,005,847 (GRCm39) |
V313M |
probably benign |
Het |
| Prr35 |
T |
C |
17: 26,166,523 (GRCm39) |
N338S |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,677,583 (GRCm39) |
S734P |
probably damaging |
Het |
| Rdh1 |
T |
C |
10: 127,595,810 (GRCm39) |
W2R |
possibly damaging |
Het |
| Rsph10b |
A |
T |
5: 143,886,156 (GRCm39) |
I285L |
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,284,987 (GRCm39) |
F502S |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,653,329 (GRCm39) |
I3693F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,814,747 (GRCm39) |
Y675C |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,593,207 (GRCm39) |
T477A |
probably benign |
Het |
| Scn2a |
G |
T |
2: 65,542,269 (GRCm39) |
V791L |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,117,820 (GRCm39) |
T1573S |
probably damaging |
Het |
| Sema3c |
A |
T |
5: 17,919,413 (GRCm39) |
H483L |
probably benign |
Het |
| Sema6c |
T |
C |
3: 95,076,002 (GRCm39) |
S219P |
probably damaging |
Het |
| Slc10a5 |
T |
G |
3: 10,400,177 (GRCm39) |
E161A |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
| Slc34a3 |
C |
T |
2: 25,123,077 (GRCm39) |
|
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,865,730 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
C |
11: 77,450,670 (GRCm39) |
S367R |
possibly damaging |
Het |
| Tlr6 |
G |
A |
5: 65,112,203 (GRCm39) |
Q235* |
probably null |
Het |
| Top2a |
A |
G |
11: 98,887,665 (GRCm39) |
V1281A |
probably benign |
Het |
| Tpgs1 |
T |
C |
10: 79,511,616 (GRCm39) |
Y253H |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,703,462 (GRCm39) |
T288A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,154,213 (GRCm39) |
E2140G |
probably benign |
Het |
| Uso1 |
A |
G |
5: 92,321,878 (GRCm39) |
Q257R |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,362,677 (GRCm39) |
V48A |
probably damaging |
Het |
| Zfp174 |
T |
A |
16: 3,666,118 (GRCm39) |
S128T |
possibly damaging |
Het |
| Zscan26 |
T |
A |
13: 21,629,225 (GRCm39) |
D426V |
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 |
|
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'- GAACATGGGACGAATTCAACGCAC -3'
(R):5'- TGCCCTAGCCACTGAACTTGTACC -3'
Sequencing Primer
(F):5'- AAGGAAGCCTGATTTTCTCCTG -3'
(R):5'- AGCCACTGAACTTGTACCTTATG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation