Incidental Mutation 'R0321:Lars1'
| ID |
35895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars1
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase 1 |
| Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
| MMRRC Submission |
038531-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0321 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42335697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1140
(K1140E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097590
AA Change: K1140E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: K1140E
| 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 |
0.2435 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
100% (79/79) |
| 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 |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,620 (GRCm39) |
T353A |
probably benign |
Het |
| 4933402N03Rik |
T |
A |
7: 130,747,956 (GRCm39) |
Y12F |
probably benign |
Het |
| Acbd3 |
T |
G |
1: 180,579,870 (GRCm39) |
F505V |
probably damaging |
Het |
| Acod1 |
T |
C |
14: 103,292,565 (GRCm39) |
V363A |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,855,200 (GRCm39) |
Q647R |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,185,243 (GRCm39) |
L296F |
probably damaging |
Het |
| Ap1b1 |
G |
A |
11: 4,982,464 (GRCm39) |
A588T |
probably benign |
Het |
| Armc8 |
A |
T |
9: 99,415,230 (GRCm39) |
I150K |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,164,251 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 36,960,937 (GRCm39) |
|
probably null |
Het |
| Carmil3 |
C |
A |
14: 55,739,698 (GRCm39) |
D928E |
possibly damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,885,279 (GRCm39) |
N73S |
probably damaging |
Het |
| Cdk9 |
C |
A |
2: 32,602,698 (GRCm39) |
|
probably benign |
Het |
| Cel |
G |
T |
2: 28,451,160 (GRCm39) |
Q66K |
probably benign |
Het |
| D930028M14Rik |
T |
A |
7: 24,854,991 (GRCm39) |
|
noncoding transcript |
Het |
| Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
| Dlg1 |
T |
C |
16: 31,676,854 (GRCm39) |
V801A |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,900,416 (GRCm39) |
D3834G |
probably benign |
Het |
| Dnajc15 |
C |
T |
14: 78,112,273 (GRCm39) |
A23T |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,910,007 (GRCm39) |
L119Q |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,035,716 (GRCm39) |
W51R |
probably damaging |
Het |
| F10 |
T |
C |
8: 13,103,413 (GRCm39) |
F266L |
possibly damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,587 (GRCm39) |
N61S |
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,671,620 (GRCm39) |
S605N |
probably benign |
Het |
| Fbxw15 |
C |
T |
9: 109,394,453 (GRCm39) |
V121I |
probably benign |
Het |
| Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
| Gfi1b |
A |
G |
2: 28,503,897 (GRCm39) |
F101S |
probably damaging |
Het |
| Gimap5 |
C |
G |
6: 48,727,449 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
C |
14: 118,385,699 (GRCm39) |
|
probably null |
Het |
| Gsn |
T |
C |
2: 35,180,408 (GRCm39) |
F188L |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,952,788 (GRCm39) |
I368N |
possibly damaging |
Het |
| Itih3 |
T |
A |
14: 30,634,063 (GRCm39) |
I153F |
probably damaging |
Het |
| Kdm8 |
A |
T |
7: 125,060,178 (GRCm39) |
Q360L |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,286 (GRCm39) |
Y71C |
probably damaging |
Het |
| Mroh5 |
C |
T |
15: 73,661,892 (GRCm39) |
G433E |
probably damaging |
Het |
| Mrpl45 |
T |
A |
11: 97,217,764 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,686,426 (GRCm39) |
T827S |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,415,972 (GRCm39) |
S2973P |
probably benign |
Het |
| Mynn |
T |
C |
3: 30,661,706 (GRCm39) |
S263P |
probably benign |
Het |
| Myo1f |
A |
C |
17: 33,811,986 (GRCm39) |
D595A |
probably benign |
Het |
| Necab1 |
A |
T |
4: 14,960,083 (GRCm39) |
I288N |
probably damaging |
Het |
| Nutm2 |
T |
G |
13: 50,626,991 (GRCm39) |
M382R |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,779,183 (GRCm39) |
S131P |
probably damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,301,891 (GRCm39) |
S619P |
probably benign |
Het |
| Phkg1 |
A |
T |
5: 129,898,365 (GRCm39) |
M1K |
probably null |
Het |
| Pigc |
C |
T |
1: 161,798,668 (GRCm39) |
Q217* |
probably null |
Het |
| Pik3r4 |
T |
A |
9: 105,525,906 (GRCm39) |
F259I |
probably damaging |
Het |
| Pkdcc |
A |
T |
17: 83,529,541 (GRCm39) |
|
probably benign |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,755,307 (GRCm39) |
I259F |
possibly damaging |
Het |
| Prune2 |
T |
G |
19: 17,098,291 (GRCm39) |
L1265R |
possibly damaging |
Het |
| Prune2 |
C |
T |
19: 17,099,818 (GRCm39) |
A1774V |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,738,139 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,328,931 (GRCm39) |
Q2067* |
probably null |
Het |
| Sec14l1 |
T |
A |
11: 117,041,568 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
C |
T |
1: 106,975,212 (GRCm39) |
W198* |
probably null |
Het |
| Smpdl3b |
A |
T |
4: 132,468,755 (GRCm39) |
V154E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,008,719 (GRCm39) |
S1950P |
probably damaging |
Het |
| Sprr1a |
T |
C |
3: 92,391,609 (GRCm39) |
T131A |
probably benign |
Het |
| Tatdn2 |
T |
G |
6: 113,686,462 (GRCm39) |
L690W |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,496,937 (GRCm39) |
F864L |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,674,444 (GRCm39) |
R243S |
probably damaging |
Het |
| Tnfrsf11a |
T |
A |
1: 105,772,583 (GRCm39) |
C623* |
probably null |
Het |
| Tprg1l |
T |
C |
4: 154,243,812 (GRCm39) |
N115D |
probably damaging |
Het |
| Ube2t |
C |
T |
1: 134,895,538 (GRCm39) |
A4V |
possibly damaging |
Het |
| Vps41 |
G |
A |
13: 19,026,465 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,149,303 (GRCm39) |
|
probably null |
Het |
| Wwc1 |
G |
A |
11: 35,732,637 (GRCm39) |
Q1024* |
probably null |
Het |
| Zfand5 |
T |
A |
19: 21,253,879 (GRCm39) |
N27K |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,608,873 (GRCm39) |
C1641S |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,629,042 (GRCm39) |
I1465T |
probably damaging |
Het |
| Zswim1 |
G |
A |
2: 164,667,947 (GRCm39) |
G400S |
probably benign |
Het |
| Zswim3 |
C |
T |
2: 164,662,279 (GRCm39) |
A253V |
possibly 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 |
|
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 |
|
|
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'- CTCGGAGCAGAAGTATCCGAAAACC -3'
(R):5'- AAGTCCGCACTGGAAAAGACGC -3'
Sequencing Primer
(F):5'- AACCATCCCGACTCTCCAATTTG -3'
(R):5'- CTCTGACACTGGGTCCTAAAAATG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation