Incidental Mutation 'R0165:Lars'
| ID |
24150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase |
| Synonyms |
2310045K21Rik, 3110009L02Rik |
| MMRRC Submission |
038441-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
18 |
| Chromosomal Location |
42202350-42262122 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42202697 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1118
(M1118K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097590
AA Change: M1118K
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: M1118K
| 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 |
0.5350 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.2%
- 20x: 91.4%
|
| Validation Efficiency |
96% (81/84) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
G |
A |
15: 8,216,382 (GRCm38) |
V1413M |
probably damaging |
Het |
| 2700049A03Rik |
T |
C |
12: 71,167,150 (GRCm38) |
I717T |
possibly damaging |
Het |
| 3632451O06Rik |
A |
G |
14: 49,773,786 (GRCm38) |
S155P |
probably benign |
Het |
| 6430571L13Rik |
A |
G |
9: 107,346,184 (GRCm38) |
|
probably benign |
Het |
| Abca15 |
T |
A |
7: 120,350,903 (GRCm38) |
|
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,219,604 (GRCm38) |
V573A |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,852,863 (GRCm38) |
|
probably benign |
Het |
| Agap3 |
A |
G |
5: 24,479,745 (GRCm38) |
T544A |
probably damaging |
Het |
| Ahrr |
G |
A |
13: 74,283,024 (GRCm38) |
|
probably benign |
Het |
| Akr1c20 |
T |
C |
13: 4,523,296 (GRCm38) |
T7A |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,540,484 (GRCm38) |
S459P |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,842,127 (GRCm38) |
|
probably null |
Het |
| Brd1 |
T |
C |
15: 88,729,777 (GRCm38) |
N305S |
probably damaging |
Het |
| Catip |
T |
A |
1: 74,368,469 (GRCm38) |
L320Q |
possibly damaging |
Het |
| Cttnbp2 |
G |
A |
6: 18,435,410 (GRCm38) |
Q150* |
probably null |
Het |
| Cyp2d22 |
T |
G |
15: 82,373,280 (GRCm38) |
N228T |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,761,593 (GRCm38) |
V1340A |
probably benign |
Het |
| Dcaf4 |
G |
A |
12: 83,535,988 (GRCm38) |
|
probably benign |
Het |
| Ddhd1 |
G |
A |
14: 45,595,592 (GRCm38) |
T849M |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,021,323 (GRCm38) |
S3987P |
probably benign |
Het |
| Dst |
C |
A |
1: 34,154,646 (GRCm38) |
|
probably benign |
Het |
| Epha2 |
T |
C |
4: 141,321,892 (GRCm38) |
|
probably null |
Het |
| Ern2 |
T |
C |
7: 122,179,779 (GRCm38) |
T281A |
probably benign |
Het |
| Extl1 |
A |
G |
4: 134,357,703 (GRCm38) |
F652S |
probably damaging |
Het |
| Gckr |
A |
G |
5: 31,326,948 (GRCm38) |
S541G |
possibly damaging |
Het |
| Gdap1l1 |
A |
G |
2: 163,451,499 (GRCm38) |
|
probably null |
Het |
| Gm7535 |
T |
C |
17: 17,911,175 (GRCm38) |
|
probably benign |
Het |
| Gmps |
T |
A |
3: 63,993,954 (GRCm38) |
I398N |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,698,527 (GRCm38) |
V1556A |
probably benign |
Het |
| Il3ra |
T |
A |
14: 14,350,967 (GRCm38) |
N283K |
probably benign |
Het |
| Ist1 |
A |
G |
8: 109,675,366 (GRCm38) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,524,810 (GRCm38) |
I1934F |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,246,519 (GRCm38) |
S846L |
probably damaging |
Het |
| Lrrc4b |
C |
A |
7: 44,462,315 (GRCm38) |
T537K |
probably damaging |
Het |
| Ltn1 |
G |
A |
16: 87,405,519 (GRCm38) |
|
probably benign |
Het |
| Meiob |
A |
G |
17: 24,835,161 (GRCm38) |
T401A |
probably benign |
Het |
| Mettl21e |
G |
A |
1: 44,211,123 (GRCm38) |
T41M |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 152,290,843 (GRCm38) |
E323K |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,159,748 (GRCm38) |
|
probably null |
Het |
| Olfr486 |
T |
C |
7: 108,172,675 (GRCm38) |
D23G |
probably benign |
Het |
| Otog |
G |
A |
7: 46,304,231 (GRCm38) |
V2638M |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,632,925 (GRCm38) |
Y274H |
probably damaging |
Het |
| Prom2 |
A |
T |
2: 127,539,514 (GRCm38) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,122,610 (GRCm38) |
M1826K |
probably benign |
Het |
| Qk |
T |
A |
17: 10,238,963 (GRCm38) |
D159V |
probably damaging |
Het |
| Rab12 |
A |
T |
17: 66,500,317 (GRCm38) |
I139N |
probably damaging |
Het |
| Rab25 |
T |
A |
3: 88,548,055 (GRCm38) |
E7D |
probably benign |
Het |
| Rala |
A |
T |
13: 17,888,589 (GRCm38) |
V139E |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,388,487 (GRCm38) |
|
probably benign |
Het |
| Rbl2 |
T |
A |
8: 91,074,176 (GRCm38) |
Y89N |
probably damaging |
Het |
| Rho |
A |
T |
6: 115,932,227 (GRCm38) |
I75F |
probably damaging |
Het |
| Slc38a4 |
C |
A |
15: 97,008,949 (GRCm38) |
A303S |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,409,809 (GRCm38) |
D551G |
probably null |
Het |
| Smyd3 |
T |
C |
1: 179,043,872 (GRCm38) |
N314S |
probably benign |
Het |
| Speer4f1 |
T |
A |
5: 17,479,514 (GRCm38) |
L180* |
probably null |
Het |
| Stat6 |
T |
C |
10: 127,657,227 (GRCm38) |
V576A |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,677,374 (GRCm38) |
D127G |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,033,096 (GRCm38) |
R8610G |
probably benign |
Het |
| Tbc1d7 |
A |
C |
13: 43,153,202 (GRCm38) |
|
probably null |
Het |
| Tcf3 |
C |
T |
10: 80,412,997 (GRCm38) |
R548Q |
probably damaging |
Het |
| Tlr9 |
C |
A |
9: 106,226,087 (GRCm38) |
A859D |
probably benign |
Het |
| Tmem106c |
T |
A |
15: 97,968,139 (GRCm38) |
|
probably benign |
Het |
| Tmprss11c |
A |
T |
5: 86,231,927 (GRCm38) |
|
probably benign |
Het |
| Tnfsf18 |
A |
G |
1: 161,494,731 (GRCm38) |
R7G |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,858,670 (GRCm38) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,797,513 (GRCm38) |
F1684I |
probably damaging |
Het |
| Ttbk1 |
C |
A |
17: 46,478,938 (GRCm38) |
R133L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,721,342 (GRCm38) |
S22962P |
probably damaging |
Het |
| Ube2q1 |
T |
A |
3: 89,776,153 (GRCm38) |
L135Q |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,265,717 (GRCm38) |
A182T |
probably benign |
Het |
| Vwce |
T |
C |
19: 10,659,973 (GRCm38) |
|
probably benign |
Het |
| Wdhd1 |
A |
G |
14: 47,267,068 (GRCm38) |
S350P |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,951,404 (GRCm38) |
S560P |
probably 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 |
|
|
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 |
|
R1583: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'- CCCGACTCTCCAATTTGCATGAGC -3'
(R):5'- TCACACTCCGAATGTGTCCCACAG -3'
Sequencing Primer
(F):5'- GCTCAGTGAACCAGGTAGACC -3'
(R):5'- TGTCCCACAGGACCTGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation