Incidental Mutation 'R1583:Lars'
| ID |
177288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase |
| Synonyms |
2310045K21Rik, 3110009L02Rik |
| MMRRC Submission |
039620-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1583 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42202350-42262122 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42210050 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1101
(R1101C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097590
AA Change: R1101C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: R1101C
| 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 |
0.7391 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
| Validation Efficiency |
99% (79/80) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 76,882,681 (GRCm38) |
S691P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,226,831 (GRCm38) |
|
probably null |
Het |
| Ankar |
A |
G |
1: 72,679,555 (GRCm38) |
|
probably benign |
Het |
| Aplf |
A |
T |
6: 87,646,033 (GRCm38) |
Y355N |
probably damaging |
Het |
| Bms1 |
A |
G |
6: 118,389,389 (GRCm38) |
|
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,463,114 (GRCm38) |
I182T |
probably damaging |
Het |
| Cd300ld2 |
T |
C |
11: 115,013,777 (GRCm38) |
D88G |
probably benign |
Het |
| Cebpz |
T |
C |
17: 78,934,752 (GRCm38) |
N491S |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 134,081,459 (GRCm38) |
S1415P |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,829,131 (GRCm38) |
V331A |
probably benign |
Het |
| Decr2 |
T |
C |
17: 26,083,024 (GRCm38) |
E244G |
probably damaging |
Het |
| Dhrs11 |
A |
G |
11: 84,823,117 (GRCm38) |
M136T |
probably damaging |
Het |
| Eapp |
G |
A |
12: 54,685,948 (GRCm38) |
Q126* |
probably null |
Het |
| Fam111a |
T |
A |
19: 12,587,778 (GRCm38) |
V297D |
probably damaging |
Het |
| Fam84a |
G |
A |
12: 14,150,408 (GRCm38) |
A106V |
probably benign |
Het |
| Fbxo10 |
A |
C |
4: 45,062,118 (GRCm38) |
L136R |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,291,374 (GRCm38) |
H613Q |
possibly damaging |
Het |
| Frk |
A |
T |
10: 34,591,810 (GRCm38) |
|
probably null |
Het |
| Gm10392 |
T |
A |
11: 77,517,481 (GRCm38) |
D104V |
probably benign |
Het |
| Gm960 |
T |
A |
19: 4,652,171 (GRCm38) |
K282N |
probably damaging |
Het |
| Gpn1 |
A |
G |
5: 31,497,338 (GRCm38) |
E78G |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 79,990,276 (GRCm38) |
Y506C |
probably damaging |
Het |
| Hid1 |
G |
A |
11: 115,356,750 (GRCm38) |
S274L |
possibly damaging |
Het |
| Immp2l |
G |
T |
12: 41,703,765 (GRCm38) |
|
probably benign |
Het |
| Klhl21 |
T |
C |
4: 152,009,624 (GRCm38) |
F228L |
possibly damaging |
Het |
| Lamc1 |
T |
A |
1: 153,243,478 (GRCm38) |
|
probably null |
Het |
| Magi2 |
T |
C |
5: 19,227,332 (GRCm38) |
V15A |
probably benign |
Het |
| Map2k7 |
T |
C |
8: 4,243,621 (GRCm38) |
|
probably null |
Het |
| Mga |
T |
A |
2: 119,963,960 (GRCm38) |
H2590Q |
possibly damaging |
Het |
| Mlxip |
T |
C |
5: 123,450,223 (GRCm38) |
I238T |
possibly damaging |
Het |
| Mylk |
T |
A |
16: 34,875,586 (GRCm38) |
D230E |
probably benign |
Het |
| Nacad |
T |
A |
11: 6,601,185 (GRCm38) |
T669S |
probably benign |
Het |
| Nin |
C |
T |
12: 70,031,738 (GRCm38) |
M1691I |
probably benign |
Het |
| Nlrp4d |
C |
T |
7: 10,382,237 (GRCm38) |
A203T |
probably damaging |
Het |
| Olfr1204 |
T |
G |
2: 88,852,262 (GRCm38) |
F104C |
probably damaging |
Het |
| Olfr1301 |
A |
T |
2: 111,754,425 (GRCm38) |
M59L |
probably damaging |
Het |
| Olfr1495 |
A |
T |
19: 13,768,510 (GRCm38) |
H56L |
probably benign |
Het |
| Olfr201 |
A |
G |
16: 59,269,031 (GRCm38) |
V212A |
probably benign |
Het |
| Olfr433 |
T |
C |
1: 174,042,480 (GRCm38) |
F177L |
probably benign |
Het |
| Olfr729 |
C |
A |
14: 50,148,774 (GRCm38) |
M33I |
probably benign |
Het |
| Osbp |
C |
A |
19: 11,977,829 (GRCm38) |
Q282K |
probably benign |
Het |
| Osbpl2 |
A |
G |
2: 180,148,463 (GRCm38) |
S177G |
probably damaging |
Het |
| Pax1 |
A |
G |
2: 147,366,255 (GRCm38) |
H261R |
possibly damaging |
Het |
| Pcif1 |
A |
T |
2: 164,886,727 (GRCm38) |
L274F |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,117,825 (GRCm38) |
S3420P |
probably benign |
Het |
| Prss3 |
A |
C |
6: 41,377,627 (GRCm38) |
|
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,163,114 (GRCm38) |
T751A |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,673,239 (GRCm38) |
V126A |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,587,916 (GRCm38) |
D258E |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,954,524 (GRCm38) |
V143A |
possibly damaging |
Het |
| Sarm1 |
G |
A |
11: 78,483,327 (GRCm38) |
Q625* |
probably null |
Het |
| Scgb1b21 |
T |
G |
7: 33,527,667 (GRCm38) |
|
noncoding transcript |
Het |
| Scrn1 |
A |
T |
6: 54,520,769 (GRCm38) |
V279E |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 125,421,895 (GRCm38) |
T1670A |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,600,962 (GRCm38) |
I305F |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,213,617 (GRCm38) |
T918A |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,980,426 (GRCm38) |
H180Q |
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,700,230 (GRCm38) |
R260* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,279,074 (GRCm38) |
D1249G |
probably benign |
Het |
| Tgtp1 |
C |
G |
11: 48,987,530 (GRCm38) |
G116A |
probably damaging |
Het |
| Tial1 |
A |
G |
7: 128,443,910 (GRCm38) |
Y317H |
probably damaging |
Het |
| Trim66 |
A |
T |
7: 109,455,080 (GRCm38) |
W1308R |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,783,545 (GRCm38) |
K878N |
possibly damaging |
Het |
| Zfp41 |
T |
A |
15: 75,618,291 (GRCm38) |
S31T |
possibly damaging |
Het |
|
| Other mutations in Lars |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Lars
|
APN |
18 |
42,229,654 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01340:Lars
|
APN |
18 |
42,202,577 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01397:Lars
|
APN |
18 |
42,228,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01510:Lars
|
APN |
18 |
42,242,109 (GRCm38) |
missense |
probably benign |
|
|
IGL01542:Lars
|
APN |
18 |
42,214,827 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL01689:Lars
|
APN |
18 |
42,216,949 (GRCm38) |
missense |
probably benign |
|
|
IGL01819:Lars
|
APN |
18 |
42,202,550 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02142:Lars
|
APN |
18 |
42,227,280 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02598:Lars
|
APN |
18 |
42,227,277 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL02630:Lars
|
APN |
18 |
42,257,169 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02973:Lars
|
APN |
18 |
42,214,759 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03064:Lars
|
APN |
18 |
42,221,571 (GRCm38) |
nonsense |
probably null |
|
|
IGL03081:Lars
|
APN |
18 |
42,210,091 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03330:Lars
|
APN |
18 |
42,219,944 (GRCm38) |
missense |
probably benign |
|
|
IGL03334:Lars
|
APN |
18 |
42,221,506 (GRCm38) |
missense |
probably benign |
|
|
IGL03340:Lars
|
APN |
18 |
42,228,650 (GRCm38) |
splice site |
probably benign |
|
|
R0165:Lars
|
UTSW |
18 |
42,202,697 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0321:Lars
|
UTSW |
18 |
42,202,632 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0325:Lars
|
UTSW |
18 |
42,250,902 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0391:Lars
|
UTSW |
18 |
42,251,363 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0558:Lars
|
UTSW |
18 |
42,214,837 (GRCm38) |
missense |
probably benign |
|
|
R0624:Lars
|
UTSW |
18 |
42,242,784 (GRCm38) |
splice site |
probably benign |
|
|
R0881:Lars
|
UTSW |
18 |
42,214,786 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0968:Lars
|
UTSW |
18 |
42,218,583 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1457:Lars
|
UTSW |
18 |
42,210,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1466:Lars
|
UTSW |
18 |
42,210,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1466:Lars
|
UTSW |
18 |
42,210,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1584:Lars
|
UTSW |
18 |
42,210,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1851:Lars
|
UTSW |
18 |
42,212,608 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1852:Lars
|
UTSW |
18 |
42,212,608 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1868:Lars
|
UTSW |
18 |
42,214,837 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1954:Lars
|
UTSW |
18 |
42,210,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2277:Lars
|
UTSW |
18 |
42,235,502 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3732:Lars
|
UTSW |
18 |
42,212,602 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3732:Lars
|
UTSW |
18 |
42,212,602 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3733:Lars
|
UTSW |
18 |
42,212,602 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4208:Lars
|
UTSW |
18 |
42,229,703 (GRCm38) |
missense |
probably benign |
0.34 |
|
R4571:Lars
|
UTSW |
18 |
42,228,230 (GRCm38) |
splice site |
probably null |
|
|
R5009:Lars
|
UTSW |
18 |
42,221,547 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5033:Lars
|
UTSW |
18 |
42,214,776 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5152:Lars
|
UTSW |
18 |
42,228,777 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5208:Lars
|
UTSW |
18 |
42,217,557 (GRCm38) |
missense |
probably benign |
|
|
R5219:Lars
|
UTSW |
18 |
42,234,720 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5396:Lars
|
UTSW |
18 |
42,216,959 (GRCm38) |
missense |
probably benign |
|
|
R5433:Lars
|
UTSW |
18 |
42,251,298 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5580:Lars
|
UTSW |
18 |
42,214,851 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5610:Lars
|
UTSW |
18 |
42,257,091 (GRCm38) |
missense |
probably benign |
|
|
R5784:Lars
|
UTSW |
18 |
42,219,899 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6249:Lars
|
UTSW |
18 |
42,257,206 (GRCm38) |
splice site |
probably null |
|
|
R6334:Lars
|
UTSW |
18 |
42,217,486 (GRCm38) |
missense |
probably benign |
|
|
R6618:Lars
|
UTSW |
18 |
42,244,908 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6900:Lars
|
UTSW |
18 |
42,234,610 (GRCm38) |
missense |
probably benign |
|
|
R6958:Lars
|
UTSW |
18 |
42,236,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7390:Lars
|
UTSW |
18 |
42,210,018 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7451:Lars
|
UTSW |
18 |
42,202,550 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7618:Lars
|
UTSW |
18 |
42,244,891 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7831:Lars
|
UTSW |
18 |
42,217,562 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7971:Lars
|
UTSW |
18 |
42,218,566 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8003:Lars
|
UTSW |
18 |
42,221,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8082:Lars
|
UTSW |
18 |
42,244,910 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8144:Lars
|
UTSW |
18 |
42,218,526 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8181:Lars
|
UTSW |
18 |
42,228,770 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8196:Lars
|
UTSW |
18 |
42,210,101 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8309:Lars
|
UTSW |
18 |
42,243,028 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R9039:Lars
|
UTSW |
18 |
42,257,169 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9101:Lars
|
UTSW |
18 |
42,243,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9306:Lars
|
UTSW |
18 |
42,225,819 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9500:Lars
|
UTSW |
18 |
42,228,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9536:Lars
|
UTSW |
18 |
42,242,981 (GRCm38) |
nonsense |
probably null |
|
|
R9738:Lars
|
UTSW |
18 |
42,217,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0064:Lars
|
UTSW |
18 |
42,228,060 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCGCTCAAGTGACACAGAAG -3'
(R):5'- AGTGTAGTCCATACACCAGGGCATC -3'
Sequencing Primer
(F):5'- CCCAAGGAAATCTATGTCTCCAGG -3'
(R):5'- AGGGCATCTTGGTGTAGACATAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation