Incidental Mutation 'R9500:Lars1'
ID |
717532 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lars1
|
Ensembl Gene |
ENSMUSG00000024493 |
Gene Name |
leucyl-tRNA synthetase 1 |
Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9500 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 42361726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 627
(I627N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
AlphaFold |
Q8BMJ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097590
AA Change: I627N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095197 Gene: ENSMUSG00000024493 AA Change: I627N
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
C |
T |
7: 27,265,091 (GRCm39) |
T107I |
possibly damaging |
Het |
Acyp1 |
T |
A |
12: 85,325,786 (GRCm39) |
Y71F |
unknown |
Het |
Akap11 |
A |
T |
14: 78,748,543 (GRCm39) |
H1281Q |
|
Het |
Amz1 |
T |
C |
5: 140,737,975 (GRCm39) |
Y412H |
probably benign |
Het |
Anxa10 |
C |
T |
8: 62,545,545 (GRCm39) |
M62I |
probably benign |
Het |
Arhgap25 |
T |
C |
6: 87,469,184 (GRCm39) |
K109E |
probably damaging |
Het |
Arhgap31 |
T |
A |
16: 38,460,683 (GRCm39) |
E43D |
probably damaging |
Het |
Atf6 |
T |
C |
1: 170,574,708 (GRCm39) |
M577V |
probably damaging |
Het |
Auts2 |
C |
A |
5: 131,505,620 (GRCm39) |
A82S |
unknown |
Het |
Bcl3 |
T |
C |
7: 19,556,602 (GRCm39) |
M1V |
probably null |
Het |
Cblb |
T |
C |
16: 51,959,993 (GRCm39) |
|
probably null |
Het |
Cc2d2b |
T |
C |
19: 40,797,840 (GRCm39) |
V820A |
unknown |
Het |
Clint1 |
T |
G |
11: 45,797,194 (GRCm39) |
M425R |
possibly damaging |
Het |
Clvs1 |
A |
G |
4: 9,429,834 (GRCm39) |
D279G |
probably damaging |
Het |
Colec11 |
A |
C |
12: 28,645,302 (GRCm39) |
I123S |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,911,355 (GRCm39) |
E1460K |
probably damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Dcaf8 |
C |
G |
1: 171,999,909 (GRCm39) |
S22R |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 50,011,271 (GRCm39) |
S1143P |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,353,709 (GRCm39) |
I2954T |
probably benign |
Het |
Dop1b |
C |
T |
16: 93,607,171 (GRCm39) |
P2275L |
probably benign |
Het |
Drc3 |
A |
G |
11: 60,261,334 (GRCm39) |
S162G |
probably benign |
Het |
Ehd2 |
T |
C |
7: 15,686,077 (GRCm39) |
I332V |
possibly damaging |
Het |
Eml1 |
T |
A |
12: 108,493,958 (GRCm39) |
D584E |
probably damaging |
Het |
Eogt |
T |
C |
6: 97,096,992 (GRCm39) |
T339A |
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,258,389 (GRCm39) |
T949A |
probably benign |
Het |
Gm11568 |
GCTGCTGCCAGCCCTGCTGCCAGCCC |
GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC |
11: 99,749,044 (GRCm39) |
|
probably benign |
Het |
Gm11568 |
AGCCC |
AGCCCTGCTGCCTGCCC |
11: 99,749,065 (GRCm39) |
|
probably benign |
Het |
Gtpbp10 |
A |
T |
5: 5,606,120 (GRCm39) |
C88* |
probably null |
Het |
Ifit1bl2 |
A |
T |
19: 34,596,508 (GRCm39) |
Y369* |
probably null |
Het |
Igsf6 |
A |
G |
7: 120,673,697 (GRCm39) |
L11P |
probably benign |
Het |
Lmo3 |
G |
T |
6: 138,393,621 (GRCm39) |
Q11K |
|
Het |
Mical2 |
A |
T |
7: 111,936,054 (GRCm39) |
|
probably null |
Het |
Mmp23 |
A |
G |
4: 155,736,567 (GRCm39) |
V158A |
probably benign |
Het |
Mmp24 |
T |
C |
2: 155,654,195 (GRCm39) |
I391T |
probably damaging |
Het |
Mrgpra3 |
A |
T |
7: 47,239,400 (GRCm39) |
Y175* |
probably null |
Het |
Mrpl23 |
G |
A |
7: 142,089,859 (GRCm39) |
V65M |
probably damaging |
Het |
Mup1 |
A |
G |
4: 60,456,488 (GRCm39) |
L85S |
possibly damaging |
Het |
Myo15b |
T |
C |
11: 115,777,466 (GRCm39) |
L747S |
probably damaging |
Het |
Nanog |
G |
T |
6: 122,690,219 (GRCm39) |
W208L |
probably damaging |
Het |
Nkg7 |
A |
G |
7: 43,087,229 (GRCm39) |
Y112C |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,141,800 (GRCm39) |
D64G |
probably damaging |
Het |
Or13p4 |
A |
G |
4: 118,546,930 (GRCm39) |
S240P |
possibly damaging |
Het |
Palm3 |
T |
C |
8: 84,753,636 (GRCm39) |
S108P |
probably damaging |
Het |
Pam |
T |
C |
1: 97,772,325 (GRCm39) |
N579D |
probably benign |
Het |
Pclo |
A |
G |
5: 14,725,648 (GRCm39) |
E1502G |
unknown |
Het |
Pde4dip |
A |
G |
3: 97,795,896 (GRCm39) |
S31P |
unknown |
Het |
Peg10 |
A |
T |
6: 4,756,871 (GRCm39) |
K482N |
unknown |
Het |
Phf19 |
A |
T |
2: 34,801,708 (GRCm39) |
L34* |
probably null |
Het |
Pla2g2c |
A |
T |
4: 138,461,689 (GRCm39) |
K53* |
probably null |
Het |
Pla2g4f |
T |
A |
2: 120,142,713 (GRCm39) |
|
probably null |
Het |
Polk |
G |
T |
13: 96,630,349 (GRCm39) |
T404K |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,657,079 (GRCm39) |
V4058D |
possibly damaging |
Het |
Prox2 |
T |
A |
12: 85,134,851 (GRCm39) |
I477F |
probably damaging |
Het |
Ptk6 |
A |
G |
2: 180,837,566 (GRCm39) |
V451A |
probably benign |
Het |
Ptpn3 |
C |
T |
4: 57,205,914 (GRCm39) |
E693K |
possibly damaging |
Het |
Rag2 |
G |
A |
2: 101,461,217 (GRCm39) |
G509D |
probably damaging |
Het |
Rapgef2 |
A |
G |
3: 78,974,093 (GRCm39) |
C1418R |
probably benign |
Het |
Rev1 |
A |
T |
1: 38,102,214 (GRCm39) |
Y716* |
probably null |
Het |
Rsl1d1 |
T |
A |
16: 11,011,385 (GRCm39) |
T440S |
possibly damaging |
Het |
Samd14 |
T |
A |
11: 94,914,372 (GRCm39) |
Y343* |
probably null |
Het |
Sema3a |
A |
T |
5: 13,615,854 (GRCm39) |
D426V |
possibly damaging |
Het |
Slc7a11 |
G |
A |
3: 50,382,201 (GRCm39) |
T182M |
probably benign |
Het |
Slitrk5 |
A |
G |
14: 111,916,726 (GRCm39) |
I117V |
possibly damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Stil |
A |
T |
4: 114,878,716 (GRCm39) |
H384L |
possibly damaging |
Het |
Suclg2 |
C |
A |
6: 95,546,666 (GRCm39) |
R270L |
probably damaging |
Het |
Taf5 |
A |
G |
19: 47,065,771 (GRCm39) |
D492G |
probably damaging |
Het |
Tes3-ps |
T |
A |
13: 49,647,815 (GRCm39) |
Y230* |
probably null |
Het |
Ttc41 |
G |
T |
10: 86,565,726 (GRCm39) |
A427S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,553,994 (GRCm39) |
D30903G |
probably damaging |
Het |
Txndc16 |
A |
T |
14: 45,406,798 (GRCm39) |
L219Q |
probably null |
Het |
Usp34 |
T |
A |
11: 23,331,337 (GRCm39) |
H1098Q |
probably damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,905,281 (GRCm39) |
Y186F |
probably damaging |
Het |
Zbtb41 |
T |
C |
1: 139,359,806 (GRCm39) |
F512S |
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 |
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 |
|
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'- TCCTCAGTTGTACAGTAGAAAAGTG -3'
(R):5'- GTCTCAGCTTCAGTCAGCATC -3'
Sequencing Primer
(F):5'- TGTCCTTCAACTCACAGAGAATGG -3'
(R):5'- CAGCTTCAGTCAGCATCAATTC -3'
|
Posted On |
2022-07-18 |