Incidental Mutation 'R8082:Lars1'
| ID |
629443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars1
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase 1 |
| Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
| MMRRC Submission |
067515-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8082 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42377975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 147
(S147C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097590
AA Change: S147C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: S147C
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 94.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,188,895 (GRCm39) |
|
probably null |
Het |
| 4921524J17Rik |
G |
A |
8: 86,136,468 (GRCm39) |
A133V |
possibly damaging |
Het |
| AAdacl4fm3 |
A |
C |
4: 144,441,897 (GRCm39) |
F118C |
probably damaging |
Het |
| Amd1 |
A |
G |
10: 40,166,508 (GRCm39) |
F123L |
probably benign |
Het |
| Ankrd34c |
C |
A |
9: 89,610,768 (GRCm39) |
K524N |
probably damaging |
Het |
| Bicd2 |
C |
T |
13: 49,532,529 (GRCm39) |
Q372* |
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,323,313 (GRCm39) |
M1002L |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,786 (GRCm39) |
Y86C |
possibly damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,954,588 (GRCm39) |
I220V |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,428,313 (GRCm39) |
T773A |
probably benign |
Het |
| Cgn |
A |
G |
3: 94,670,368 (GRCm39) |
F1029L |
probably benign |
Het |
| Cntnap5b |
T |
A |
1: 100,306,941 (GRCm39) |
M515K |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,661,129 (GRCm39) |
K327* |
probably null |
Het |
| Cspg4 |
A |
G |
9: 56,793,177 (GRCm39) |
Y304C |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Dync2i1 |
T |
A |
12: 116,177,127 (GRCm39) |
|
probably null |
Het |
| Ecpas |
G |
A |
4: 58,807,852 (GRCm39) |
A1672V |
probably benign |
Het |
| Emilin3 |
A |
C |
2: 160,750,066 (GRCm39) |
V561G |
probably damaging |
Het |
| Fam3c |
T |
A |
6: 22,343,303 (GRCm39) |
D12V |
unknown |
Het |
| Fam83f |
T |
C |
15: 80,574,119 (GRCm39) |
V158A |
probably damaging |
Het |
| Fgfbp1 |
T |
C |
5: 44,136,621 (GRCm39) |
R224G |
probably damaging |
Het |
| Gid4 |
A |
G |
11: 60,327,273 (GRCm39) |
K153E |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hic2 |
A |
G |
16: 17,076,563 (GRCm39) |
H464R |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,419,987 (GRCm39) |
R602C |
probably damaging |
Het |
| Ints15 |
T |
C |
5: 143,297,607 (GRCm39) |
R147G |
probably benign |
Het |
| Izumo1r |
T |
A |
9: 14,805,373 (GRCm39) |
D171V |
unknown |
Het |
| Kel |
T |
A |
6: 41,680,424 (GRCm39) |
E12V |
possibly damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,466 (GRCm39) |
S14P |
possibly damaging |
Het |
| Lgals1 |
C |
T |
15: 78,814,301 (GRCm39) |
A122V |
probably benign |
Het |
| Lgsn |
C |
T |
1: 31,243,273 (GRCm39) |
H452Y |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,348,248 (GRCm39) |
I2816F |
unknown |
Het |
| Mcoln1 |
T |
A |
8: 3,557,420 (GRCm39) |
I142K |
probably benign |
Het |
| Met |
G |
A |
6: 17,492,312 (GRCm39) |
R358Q |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,504,103 (GRCm39) |
C1276S |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,253,771 (GRCm39) |
M264T |
probably benign |
Het |
| Mtfr2 |
C |
T |
10: 20,229,135 (GRCm39) |
T81M |
probably benign |
Het |
| Myo5c |
G |
A |
9: 75,182,793 (GRCm39) |
A811T |
possibly damaging |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
| Ndufs3 |
T |
C |
2: 90,725,208 (GRCm39) |
D213G |
probably damaging |
Het |
| Or51k1 |
T |
A |
7: 103,661,897 (GRCm39) |
E4V |
probably benign |
Het |
| Or5ac20 |
T |
C |
16: 59,104,750 (GRCm39) |
T37A |
possibly damaging |
Het |
| Or5g9 |
T |
C |
2: 85,551,824 (GRCm39) |
V25A |
probably benign |
Het |
| Or9g8 |
T |
A |
2: 85,607,044 (GRCm39) |
L39I |
probably benign |
Het |
| Otog |
C |
T |
7: 45,939,143 (GRCm39) |
R2058C |
probably damaging |
Het |
| Pcdh10 |
A |
T |
3: 45,336,179 (GRCm39) |
K831M |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,957,652 (GRCm39) |
D569G |
probably benign |
Het |
| Polr3b |
T |
C |
10: 84,491,927 (GRCm39) |
L362P |
probably damaging |
Het |
| Rims2 |
G |
T |
15: 39,339,919 (GRCm39) |
R871L |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,027,555 (GRCm39) |
I54N |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,548 (GRCm39) |
D263G |
possibly damaging |
Het |
| Slc43a1 |
C |
T |
2: 84,687,244 (GRCm39) |
R382C |
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,353,527 (GRCm39) |
R193G |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,816,579 (GRCm39) |
K484N |
probably benign |
Het |
| Sry |
T |
A |
Y: 2,662,589 (GRCm39) |
Q357L |
unknown |
Het |
| Taar8b |
T |
A |
10: 23,967,789 (GRCm39) |
D135V |
possibly damaging |
Het |
| Tekt3 |
T |
G |
11: 62,961,056 (GRCm39) |
V75G |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,351 (GRCm39) |
L198P |
probably damaging |
Het |
| Tuba1a |
C |
T |
15: 98,848,742 (GRCm39) |
V177I |
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 |
|
|
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 |
|
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'- ACGGCGTACCTTCAAACCTATAG -3'
(R):5'- AACTGAGAGTTCGTCTGAAGGTG -3'
Sequencing Primer
(F):5'- ATAGTCTTCAGATCCTGAACGGC -3'
(R):5'- AGGTGTTGAATCCCCTGGAAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation