Incidental Mutation 'R1457:Lars1'
| ID |
158616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars1
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase 1 |
| Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
| MMRRC Submission |
039512-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1457 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42343115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1101
(R1101C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097590
AA Change: R1101C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: R1101C
| 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 |
0.7391 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.3%
|
| Validation Efficiency |
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,888,683 (GRCm39) |
I1210F |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,433,705 (GRCm39) |
H688R |
possibly damaging |
Het |
| Arhgap24 |
T |
A |
5: 102,811,972 (GRCm39) |
N66K |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,497,782 (GRCm39) |
G335D |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,350,381 (GRCm39) |
R488H |
possibly damaging |
Het |
| Cacna1h |
A |
T |
17: 25,616,594 (GRCm39) |
V149E |
probably damaging |
Het |
| Cd22 |
G |
T |
7: 30,572,595 (GRCm39) |
P338Q |
probably benign |
Het |
| Cntln |
G |
T |
4: 85,015,076 (GRCm39) |
M1122I |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,012,768 (GRCm39) |
N302S |
probably benign |
Het |
| Cog8 |
T |
C |
8: 107,779,528 (GRCm39) |
R250G |
probably damaging |
Het |
| Cracdl |
A |
T |
1: 37,665,093 (GRCm39) |
Y268* |
probably null |
Het |
| Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
| Cyp2b23 |
G |
A |
7: 26,372,574 (GRCm39) |
P347L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,403,688 (GRCm39) |
|
probably null |
Het |
| Eml6 |
C |
T |
11: 29,974,459 (GRCm39) |
V40I |
probably damaging |
Het |
| Epb42 |
C |
T |
2: 120,860,448 (GRCm39) |
|
probably null |
Het |
| Fcrla |
A |
G |
1: 170,748,573 (GRCm39) |
L190P |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,378,635 (GRCm39) |
Y40* |
probably null |
Het |
| Gdf7 |
A |
T |
12: 8,348,073 (GRCm39) |
M416K |
probably damaging |
Het |
| Gm11232 |
T |
A |
4: 71,675,156 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
A |
19: 55,076,608 (GRCm39) |
N198Y |
probably damaging |
Het |
| Grip1 |
C |
T |
10: 119,822,255 (GRCm39) |
S327F |
possibly damaging |
Het |
| Hey2 |
C |
T |
10: 30,710,352 (GRCm39) |
A134T |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,428,668 (GRCm39) |
I1341T |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,575,502 (GRCm39) |
L542P |
probably benign |
Het |
| Lman2 |
T |
C |
13: 55,499,064 (GRCm39) |
D234G |
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,745,635 (GRCm39) |
I1273R |
probably damaging |
Het |
| Matn1 |
T |
A |
4: 130,677,330 (GRCm39) |
F180I |
possibly damaging |
Het |
| Meikin |
T |
A |
11: 54,261,767 (GRCm39) |
L61* |
probably null |
Het |
| Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,221,872 (GRCm39) |
I199T |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,139,287 (GRCm39) |
S535T |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,120,347 (GRCm39) |
M1715T |
probably damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,971 (GRCm39) |
V54D |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,992,748 (GRCm39) |
V286A |
probably damaging |
Het |
| Ndnf |
A |
G |
6: 65,680,998 (GRCm39) |
K426E |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,098,279 (GRCm39) |
N1410K |
possibly damaging |
Het |
| Oca2 |
A |
T |
7: 55,971,269 (GRCm39) |
T399S |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,816 (GRCm39) |
K301* |
probably null |
Het |
| Or1af1 |
A |
C |
2: 37,109,671 (GRCm39) |
T57P |
possibly damaging |
Het |
| Or51a43 |
A |
T |
7: 103,717,666 (GRCm39) |
C191S |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,278 (GRCm39) |
N283K |
probably damaging |
Het |
| Or8c10 |
G |
A |
9: 38,279,492 (GRCm39) |
V217I |
probably benign |
Het |
| Or8j3 |
A |
G |
2: 86,028,596 (GRCm39) |
S167P |
probably damaging |
Het |
| Otogl |
A |
C |
10: 107,714,013 (GRCm39) |
|
probably null |
Het |
| Pde4b |
C |
T |
4: 102,462,373 (GRCm39) |
T511I |
probably damaging |
Het |
| Proser3 |
A |
G |
7: 30,239,172 (GRCm39) |
|
probably null |
Het |
| Psmd12 |
G |
A |
11: 107,370,472 (GRCm39) |
V24M |
probably damaging |
Het |
| Rbm17 |
A |
T |
2: 11,598,272 (GRCm39) |
M170K |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,374,710 (GRCm39) |
T1064I |
possibly damaging |
Het |
| Ripor3 |
C |
T |
2: 167,834,573 (GRCm39) |
V281M |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,130,904 (GRCm39) |
Q1353K |
possibly damaging |
Het |
| Sgo2a |
A |
G |
1: 58,054,965 (GRCm39) |
D383G |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,132,446 (GRCm39) |
T1346M |
probably damaging |
Het |
| Slx1b |
A |
T |
7: 126,291,968 (GRCm39) |
V63E |
probably damaging |
Het |
| Son |
A |
G |
16: 91,453,974 (GRCm39) |
D907G |
probably damaging |
Het |
| Src |
G |
A |
2: 157,311,132 (GRCm39) |
V401M |
probably damaging |
Het |
| St3gal4 |
T |
C |
9: 34,966,053 (GRCm39) |
K24E |
possibly damaging |
Het |
| Stat6 |
A |
G |
10: 127,494,114 (GRCm39) |
K647R |
probably damaging |
Het |
| Tbl1xr1 |
G |
A |
3: 22,247,333 (GRCm39) |
|
probably null |
Het |
| Tlk2 |
G |
A |
11: 105,147,778 (GRCm39) |
|
probably null |
Het |
| Tmbim6 |
T |
A |
15: 99,299,496 (GRCm39) |
I3K |
probably benign |
Het |
| Tmeff2 |
A |
T |
1: 51,221,026 (GRCm39) |
I334F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,670,659 (GRCm39) |
|
probably null |
Het |
| Ubl7 |
T |
A |
9: 57,821,894 (GRCm39) |
I81N |
probably damaging |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,433 (GRCm39) |
Y77C |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,890 (GRCm39) |
C217R |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,603,554 (GRCm39) |
T331A |
probably benign |
Het |
| Vmn1r65 |
A |
G |
7: 6,012,156 (GRCm39) |
V26A |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,065,445 (GRCm39) |
V1241G |
possibly damaging |
Het |
| Wtap |
A |
C |
17: 13,200,631 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
C |
A |
4: 136,712,148 (GRCm39) |
A1187S |
possibly damaging |
Het |
| Zfp57 |
T |
C |
17: 37,316,990 (GRCm39) |
S20P |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,227 (GRCm39) |
D397G |
probably damaging |
Het |
| Zfp747 |
A |
T |
7: 126,973,676 (GRCm39) |
S165T |
probably benign |
Het |
| Zfp949 |
C |
T |
9: 88,451,891 (GRCm39) |
T487I |
probably damaging |
Het |
| Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
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 |
|
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'- TGGCGCTCAAGTGACACAGAAG -3'
(R):5'- AGTGTAGTCCATACACCAGGGCATC -3'
Sequencing Primer
(F):5'- CCCAAGGAAATCTATGTCTCCAGG -3'
(R):5'- AGGGCATCTTGGTGTAGACATAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation