Incidental Mutation 'R9039:Lars1'
| ID |
687638 |
| 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 # |
R9039 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42390234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 11
(D11G)
|
| 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 damaging
Transcript: ENSMUST00000097590
AA Change: D11G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: D11G
| 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: 98.7%
|
| Validation Efficiency |
100% (68/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,213,849 (GRCm39) |
V692A |
possibly damaging |
Het |
| Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,345,914 (GRCm39) |
I321T |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,645,730 (GRCm39) |
T821I |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,473,192 (GRCm39) |
L937P |
probably damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,919,767 (GRCm39) |
D45G |
probably benign |
Het |
| C8a |
C |
T |
4: 104,679,200 (GRCm39) |
R530H |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,016,057 (GRCm39) |
S694P |
probably benign |
Het |
| Cdca7 |
T |
A |
2: 72,312,856 (GRCm39) |
D162E |
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,936,907 (GRCm39) |
Q600K |
probably benign |
Het |
| Cert1 |
C |
T |
13: 96,679,717 (GRCm39) |
P16S |
probably benign |
Het |
| Coq8b |
A |
C |
7: 26,950,011 (GRCm39) |
R363S |
probably benign |
Het |
| Cpne3 |
A |
T |
4: 19,540,770 (GRCm39) |
C202S |
probably damaging |
Het |
| Csmd3 |
G |
T |
15: 47,483,308 (GRCm39) |
|
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,344,461 (GRCm39) |
V468E |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,405,215 (GRCm39) |
D2442E |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,163,553 (GRCm39) |
Y49C |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,382,870 (GRCm39) |
R268G |
probably damaging |
Het |
| Eid3 |
C |
T |
10: 82,703,565 (GRCm39) |
S342L |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,528,671 (GRCm39) |
L296P |
possibly damaging |
Het |
| Fgfrl1 |
G |
C |
5: 108,853,439 (GRCm39) |
|
probably null |
Het |
| Flg2 |
A |
G |
3: 93,110,899 (GRCm39) |
R976G |
unknown |
Het |
| Fsip2 |
C |
A |
2: 82,828,545 (GRCm39) |
Q6781K |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,352,799 (GRCm39) |
H857Y |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,244,646 (GRCm39) |
V701E |
probably damaging |
Het |
| Il21 |
A |
T |
3: 37,286,602 (GRCm39) |
I38N |
probably benign |
Het |
| Ip6k2 |
G |
T |
9: 108,681,807 (GRCm39) |
G246V |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,758,185 (GRCm39) |
Q726R |
probably damaging |
Het |
| Itsn1 |
A |
T |
16: 91,703,658 (GRCm39) |
N1521Y |
unknown |
Het |
| Kif2b |
A |
G |
11: 91,467,131 (GRCm39) |
V384A |
possibly damaging |
Het |
| L3mbtl1 |
G |
T |
2: 162,807,988 (GRCm39) |
R541L |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,614,120 (GRCm39) |
C1296* |
probably null |
Het |
| Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
| Mmp27 |
C |
A |
9: 7,581,250 (GRCm39) |
F478L |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,155,251 (GRCm39) |
|
probably benign |
Het |
| Naaa |
T |
A |
5: 92,420,300 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
T |
A |
1: 135,371,487 (GRCm39) |
Q1746L |
unknown |
Het |
| Nedd9 |
T |
C |
13: 41,471,984 (GRCm39) |
Y165C |
probably damaging |
Het |
| Neurod1 |
T |
C |
2: 79,284,720 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or2q1 |
A |
T |
6: 42,794,545 (GRCm39) |
I47F |
probably damaging |
Het |
| Or4c122 |
G |
T |
2: 89,079,545 (GRCm39) |
F152L |
probably benign |
Het |
| Or5al6 |
T |
C |
2: 85,976,625 (GRCm39) |
Y151C |
probably damaging |
Het |
| Or9m1 |
T |
C |
2: 87,733,907 (GRCm39) |
T38A |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,274,533 (GRCm39) |
N33D |
possibly damaging |
Het |
| Ppp1r3a |
G |
A |
6: 14,754,525 (GRCm39) |
P241S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,134,657 (GRCm39) |
T949A |
probably benign |
Het |
| Prdx6 |
A |
T |
1: 161,078,619 (GRCm39) |
I23N |
probably damaging |
Het |
| Prkd3 |
A |
T |
17: 79,280,003 (GRCm39) |
V334E |
probably benign |
Het |
| Prr12 |
A |
T |
7: 44,684,146 (GRCm39) |
D1631E |
probably damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,819,551 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
T |
G |
12: 8,794,430 (GRCm39) |
D773E |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,856,648 (GRCm39) |
C451R |
probably benign |
Het |
| Slc37a2 |
A |
G |
9: 37,148,658 (GRCm39) |
S275P |
probably benign |
Het |
| Slmap |
G |
T |
14: 26,254,519 (GRCm39) |
N54K |
probably benign |
Het |
| Susd4 |
A |
G |
1: 182,681,597 (GRCm39) |
D146G |
probably benign |
Het |
| Tekt3 |
G |
A |
11: 62,972,169 (GRCm39) |
R275H |
possibly damaging |
Het |
| Tkfc |
A |
G |
19: 10,573,612 (GRCm39) |
L242P |
probably damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,363,576 (GRCm39) |
L99I |
probably benign |
Het |
| Triqk |
A |
T |
4: 12,980,490 (GRCm39) |
D78V |
probably damaging |
Het |
| Trmo |
T |
C |
4: 46,382,322 (GRCm39) |
D258G |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,826,489 (GRCm39) |
V920A |
probably benign |
Het |
| Tspan17 |
C |
T |
13: 54,943,991 (GRCm39) |
Q257* |
probably null |
Het |
| Tube1 |
T |
A |
10: 39,011,017 (GRCm39) |
F45I |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,822 (GRCm39) |
T109A |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,367,902 (GRCm39) |
Y363* |
probably null |
Het |
| Zfp324 |
G |
T |
7: 12,705,455 (GRCm39) |
G548V |
probably benign |
Het |
| Zpld2 |
C |
A |
4: 133,922,858 (GRCm39) |
V492F |
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 |
|
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'- CAGCCCACTCAGACATTGTCTC -3'
(R):5'- GTCAGTGAGCAGCTTGGTTC -3'
Sequencing Primer
(F):5'- AGACATTGTCTCACTTTCTGGC -3'
(R):5'- TCACACAGGGTCTCATGTAGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation