Incidental Mutation 'R5610:Lars1'
ID |
440339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lars1
|
Ensembl Gene |
ENSMUSG00000024493 |
Gene Name |
leucyl-tRNA synthetase 1 |
Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5610 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42390156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 37
(L37P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
AlphaFold |
Q8BMJ2 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000091925
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097590
AA Change: L37P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095197 Gene: ENSMUSG00000024493 AA Change: L37P
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 144,982,156 (GRCm39) |
D247G |
possibly damaging |
Het |
1700123K08Rik |
A |
G |
5: 138,562,403 (GRCm39) |
|
probably null |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Accsl |
C |
A |
2: 93,692,118 (GRCm39) |
|
probably null |
Het |
Adad2 |
C |
T |
8: 120,341,500 (GRCm39) |
R171C |
probably benign |
Het |
Adgrv1 |
A |
C |
13: 81,669,236 (GRCm39) |
L2440R |
probably damaging |
Het |
Antxr1 |
A |
G |
6: 87,232,845 (GRCm39) |
V239A |
probably damaging |
Het |
Aoc1l2 |
G |
A |
6: 48,907,953 (GRCm39) |
V318I |
probably benign |
Het |
Arhgap28 |
G |
A |
17: 68,203,235 (GRCm39) |
Q73* |
probably null |
Het |
Arrdc5 |
C |
T |
17: 56,604,846 (GRCm39) |
R147H |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,930,492 (GRCm39) |
Y1990H |
probably damaging |
Het |
Bank1 |
T |
C |
3: 135,772,148 (GRCm39) |
E494G |
probably damaging |
Het |
Bicral |
A |
T |
17: 47,119,418 (GRCm39) |
I701N |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,979,217 (GRCm39) |
Y699C |
probably damaging |
Het |
C3ar1 |
T |
G |
6: 122,827,537 (GRCm39) |
T227P |
probably benign |
Het |
Ccr3 |
C |
A |
9: 123,829,518 (GRCm39) |
D284E |
probably damaging |
Het |
Cdh13 |
T |
C |
8: 119,578,462 (GRCm39) |
V163A |
possibly damaging |
Het |
CK137956 |
C |
T |
4: 127,840,440 (GRCm39) |
|
probably null |
Het |
Cltc |
T |
C |
11: 86,612,472 (GRCm39) |
S529G |
probably benign |
Het |
Cplane2 |
C |
T |
4: 140,947,177 (GRCm39) |
P186L |
probably benign |
Het |
Ddx11 |
A |
G |
17: 66,457,021 (GRCm39) |
K783E |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,538,288 (GRCm39) |
|
probably null |
Het |
Eef2k |
A |
G |
7: 120,486,005 (GRCm39) |
H408R |
probably benign |
Het |
Esr1 |
A |
G |
10: 4,951,221 (GRCm39) |
K533R |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,406,109 (GRCm39) |
Y953* |
probably null |
Het |
Fosl1 |
T |
A |
19: 5,505,133 (GRCm39) |
|
probably null |
Het |
Frmd4b |
A |
G |
6: 97,283,752 (GRCm39) |
M373T |
probably benign |
Het |
Gm1968 |
A |
G |
16: 29,777,557 (GRCm39) |
|
noncoding transcript |
Het |
Gpr26 |
T |
C |
7: 131,568,694 (GRCm39) |
V13A |
possibly damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,303,117 (GRCm39) |
N106S |
possibly damaging |
Het |
Itgb8 |
T |
G |
12: 119,134,429 (GRCm39) |
E546A |
probably damaging |
Het |
Itpr3 |
C |
T |
17: 27,337,540 (GRCm39) |
T2450M |
probably benign |
Het |
Kif1a |
A |
T |
1: 92,953,450 (GRCm39) |
Y1245N |
probably damaging |
Het |
Klrb1f |
G |
A |
6: 129,031,335 (GRCm39) |
|
probably null |
Het |
Lnpk |
T |
C |
2: 74,378,369 (GRCm39) |
T131A |
probably benign |
Het |
Mob3c |
C |
T |
4: 115,690,878 (GRCm39) |
T156I |
probably benign |
Het |
Nadk |
T |
A |
4: 155,668,628 (GRCm39) |
W100R |
probably damaging |
Het |
Npy6r |
A |
T |
18: 44,409,061 (GRCm39) |
I161F |
probably benign |
Het |
Or4c107 |
A |
C |
2: 88,789,170 (GRCm39) |
D120A |
probably damaging |
Het |
Or6c204 |
G |
A |
10: 129,022,426 (GRCm39) |
T288I |
probably damaging |
Het |
Pcdhga3 |
A |
G |
18: 37,808,276 (GRCm39) |
E243G |
possibly damaging |
Het |
Pdss2 |
A |
G |
10: 43,315,828 (GRCm39) |
T361A |
probably benign |
Het |
Pkd1l2 |
G |
T |
8: 117,769,059 (GRCm39) |
Q1198K |
probably benign |
Het |
Prdx1 |
T |
A |
4: 116,550,124 (GRCm39) |
I102N |
probably damaging |
Het |
Prss1 |
G |
A |
6: 41,438,147 (GRCm39) |
V25I |
probably benign |
Het |
Pspc1 |
A |
G |
14: 57,015,388 (GRCm39) |
Y77H |
probably damaging |
Het |
Rnf5 |
T |
C |
17: 34,820,712 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
C |
A |
7: 28,811,399 (GRCm39) |
M235I |
probably benign |
Het |
Sec24c |
A |
G |
14: 20,741,893 (GRCm39) |
Y776C |
probably damaging |
Het |
Sharpin |
A |
G |
15: 76,234,253 (GRCm39) |
|
probably null |
Het |
Slc12a4 |
C |
A |
8: 106,676,845 (GRCm39) |
V482L |
possibly damaging |
Het |
Slc38a1 |
C |
T |
15: 96,514,022 (GRCm39) |
|
probably null |
Het |
Smtn |
G |
T |
11: 3,479,582 (GRCm39) |
T495N |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,001,991 (GRCm39) |
T171A |
probably benign |
Het |
Sprr2e |
T |
C |
3: 92,260,399 (GRCm39) |
*77R |
probably null |
Het |
Syngap1 |
T |
A |
17: 27,178,754 (GRCm39) |
D443E |
possibly damaging |
Het |
Taldo1 |
T |
C |
7: 140,972,205 (GRCm39) |
V24A |
probably damaging |
Het |
Tfap2c |
T |
A |
2: 172,391,778 (GRCm39) |
N8K |
probably benign |
Het |
Tmem229a |
T |
C |
6: 24,955,580 (GRCm39) |
Y58C |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,689,577 (GRCm39) |
Y563C |
probably damaging |
Het |
Ubr1 |
T |
A |
2: 120,722,593 (GRCm39) |
D1342V |
probably benign |
Het |
Usp7 |
C |
T |
16: 8,534,374 (GRCm39) |
|
probably null |
Het |
Wbp1 |
C |
T |
6: 83,097,216 (GRCm39) |
G75D |
probably damaging |
Het |
Zfp180 |
G |
T |
7: 23,804,315 (GRCm39) |
V245F |
probably benign |
Het |
Zfp414 |
C |
T |
17: 33,849,012 (GRCm39) |
T33I |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,478,530 (GRCm39) |
C236S |
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 |
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'- TAAACATCTGAGTCGGCTGG -3'
(R):5'- GTCAGTGAGCAGCTTGGTTC -3'
Sequencing Primer
(F):5'- AAGGGACTCCTGCAAGTTGTC -3'
(R):5'- TCACACAGGGTCTCATGTAGC -3'
|
Posted On |
2016-11-08 |