Incidental Mutation 'R5433:Lars1'
| ID |
428177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars1
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase 1 |
| Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
| MMRRC Submission |
042998-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5433 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42384363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 72
(C72R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000091925
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097590
AA Change: C72R
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: C72R
| 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 |
0.9572 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
T |
C |
1: 52,964,657 (GRCm39) |
S24G |
probably damaging |
Het |
| 1810064F22Rik |
A |
G |
9: 22,119,039 (GRCm39) |
|
noncoding transcript |
Het |
| Aacs |
A |
T |
5: 125,592,078 (GRCm39) |
M589L |
probably benign |
Het |
| Adamts8 |
A |
C |
9: 30,873,012 (GRCm39) |
H739P |
probably benign |
Het |
| Atp8b2 |
T |
C |
3: 89,860,216 (GRCm39) |
|
probably benign |
Het |
| BC030500 |
A |
G |
8: 59,366,043 (GRCm39) |
|
probably benign |
Het |
| Btnl9 |
T |
A |
11: 49,066,830 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
G |
T |
18: 60,940,993 (GRCm39) |
A31S |
probably benign |
Het |
| Ceacam3 |
G |
A |
7: 16,893,808 (GRCm39) |
A440T |
possibly damaging |
Het |
| Ces1d |
G |
A |
8: 93,912,664 (GRCm39) |
T258I |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,266,735 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
C |
T |
19: 4,203,449 (GRCm39) |
A430V |
probably benign |
Het |
| Cyp2c65 |
A |
T |
19: 39,081,928 (GRCm39) |
I485L |
probably benign |
Het |
| Dio1 |
A |
T |
4: 107,163,977 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 50,000,966 (GRCm39) |
|
probably null |
Het |
| Dynlt5 |
A |
G |
4: 102,859,700 (GRCm39) |
E84G |
possibly damaging |
Het |
| Elp6 |
A |
G |
9: 110,144,851 (GRCm39) |
Y136C |
probably damaging |
Het |
| Gon4l |
A |
T |
3: 88,803,532 (GRCm39) |
Q1382L |
possibly damaging |
Het |
| Guca1a |
T |
C |
17: 47,711,295 (GRCm39) |
E17G |
probably damaging |
Het |
| Gucy2d |
G |
A |
7: 98,098,982 (GRCm39) |
G267E |
probably damaging |
Het |
| Gvin3 |
T |
A |
7: 106,199,314 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
T |
A |
4: 137,256,105 (GRCm39) |
|
probably null |
Het |
| Il1a |
G |
T |
2: 129,149,821 (GRCm39) |
D26E |
possibly damaging |
Het |
| Il22b |
T |
A |
10: 118,130,789 (GRCm39) |
I36F |
probably damaging |
Het |
| Kcna1 |
A |
T |
6: 126,620,075 (GRCm39) |
F82I |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lamtor5 |
T |
G |
3: 107,189,323 (GRCm39) |
C120G |
probably benign |
Het |
| Lrrfip1 |
T |
G |
1: 91,014,848 (GRCm39) |
|
probably null |
Het |
| Mapkapk3 |
T |
C |
9: 107,133,491 (GRCm39) |
D349G |
probably damaging |
Het |
| Mknk2 |
A |
T |
10: 80,503,059 (GRCm39) |
I421N |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,191,381 (GRCm39) |
I820T |
probably benign |
Het |
| Notch2 |
T |
G |
3: 98,033,450 (GRCm39) |
V1182G |
probably damaging |
Het |
| Or1af1 |
T |
G |
2: 37,109,684 (GRCm39) |
F61C |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2z2 |
C |
T |
11: 58,346,680 (GRCm39) |
V32M |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,245,632 (GRCm39) |
S641T |
probably damaging |
Het |
| Prok1 |
T |
A |
3: 107,146,949 (GRCm39) |
H6L |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,000,468 (GRCm39) |
V1172E |
probably damaging |
Het |
| Rasal3 |
C |
T |
17: 32,612,575 (GRCm39) |
R762Q |
probably benign |
Het |
| Rgs20 |
G |
T |
1: 5,140,333 (GRCm39) |
A23E |
possibly damaging |
Het |
| Rprd1a |
T |
C |
18: 24,640,288 (GRCm39) |
T163A |
probably benign |
Het |
| Rrm1 |
A |
T |
7: 102,114,974 (GRCm39) |
N37I |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,481,350 (GRCm39) |
E520V |
probably damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,252,143 (GRCm39) |
P56Q |
probably damaging |
Het |
| Slc22a3 |
C |
T |
17: 12,677,377 (GRCm39) |
G264S |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,059,294 (GRCm39) |
E770G |
probably damaging |
Het |
| Svop |
A |
G |
5: 114,198,186 (GRCm39) |
V129A |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,232,663 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,951,105 (GRCm39) |
|
probably benign |
Het |
| Tmem30a |
T |
A |
9: 79,687,930 (GRCm39) |
I80F |
probably damaging |
Het |
| Vmn2r16 |
G |
T |
5: 109,511,708 (GRCm39) |
L638F |
probably damaging |
Het |
| Xkr7 |
T |
A |
2: 152,896,244 (GRCm39) |
I366N |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,990,998 (GRCm39) |
|
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 |
|
|
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 |
|
|
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'- CGTCACTGAACAACTCTAGTGC -3'
(R):5'- AGTACTTGTATAGCCAAGCCTCC -3'
Sequencing Primer
(F):5'- TTTTGAACAAGCACACGTCTAGAC -3'
(R):5'- GTATAGCCAAGCCTCCTCTCCAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation