Incidental Mutation 'R7451:Lars1'
| ID |
577762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars1
|
| Ensembl Gene |
ENSMUSG00000024493 |
| Gene Name |
leucyl-tRNA synthetase 1 |
| Synonyms |
3110009L02Rik, 2310045K21Rik, Lars |
| MMRRC Submission |
045525-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7451 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42335363-42395259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42335615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 1167
(T1167K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097590]
|
| AlphaFold |
Q8BMJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097590
AA Change: T1167K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: T1167K
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (84/84) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,148,797 (GRCm39) |
I794T |
probably damaging |
Het |
| Abcc5 |
T |
A |
16: 20,193,820 (GRCm39) |
H767L |
probably damaging |
Het |
| Adgrb2 |
A |
T |
4: 129,908,350 (GRCm39) |
M1031L |
probably damaging |
Het |
| Akna |
T |
A |
4: 63,296,904 (GRCm39) |
M891L |
probably benign |
Het |
| Aloxe3 |
C |
A |
11: 69,033,746 (GRCm39) |
T620K |
possibly damaging |
Het |
| Amph |
A |
G |
13: 19,261,538 (GRCm39) |
Y63C |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,930 (GRCm39) |
I259V |
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,504,700 (GRCm39) |
W652* |
probably null |
Het |
| Atp8a2 |
C |
T |
14: 60,028,630 (GRCm39) |
D946N |
probably null |
Het |
| BC024063 |
T |
A |
10: 81,944,576 (GRCm39) |
N65K |
probably benign |
Het |
| Bean1 |
A |
T |
8: 104,940,628 (GRCm39) |
M154L |
probably benign |
Het |
| Bltp1 |
G |
T |
3: 37,076,956 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
T |
6: 118,570,981 (GRCm39) |
V2181M |
unknown |
Het |
| Cacna1g |
A |
G |
11: 94,319,901 (GRCm39) |
I1425T |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,702,981 (GRCm39) |
|
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cfap97d1 |
A |
T |
11: 101,882,283 (GRCm39) |
N147I |
possibly damaging |
Het |
| Cfd |
T |
A |
10: 79,727,362 (GRCm39) |
V43E |
probably damaging |
Het |
| Chd9 |
GCCCC |
GCCC |
8: 91,760,418 (GRCm39) |
|
probably null |
Het |
| Chd9 |
T |
A |
8: 91,760,446 (GRCm39) |
S2064T |
probably benign |
Het |
| Cpsf2 |
T |
G |
12: 101,967,051 (GRCm39) |
V646G |
possibly damaging |
Het |
| Ctif |
T |
C |
18: 75,652,874 (GRCm39) |
D461G |
possibly damaging |
Het |
| Cyp3a41a |
T |
A |
5: 145,636,550 (GRCm39) |
E414D |
probably benign |
Het |
| Dagla |
A |
G |
19: 10,230,719 (GRCm39) |
V544A |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,554,542 (GRCm39) |
V1228E |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,909,993 (GRCm39) |
L176* |
probably null |
Het |
| Fbxw26 |
T |
A |
9: 109,561,691 (GRCm39) |
I168L |
probably benign |
Het |
| Flt3 |
T |
A |
5: 147,286,477 (GRCm39) |
Y703F |
probably damaging |
Het |
| Frmpd1 |
C |
T |
4: 45,279,558 (GRCm39) |
P761L |
probably benign |
Het |
| Gabrd |
A |
G |
4: 155,472,916 (GRCm39) |
V89A |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,881,804 (GRCm39) |
H98Q |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,900,876 (GRCm39) |
V1421A |
possibly damaging |
Het |
| Gprin2 |
A |
G |
14: 33,917,762 (GRCm39) |
S3P |
probably damaging |
Het |
| Ifi211 |
T |
G |
1: 173,727,058 (GRCm39) |
D362A |
probably damaging |
Het |
| Lce1b |
T |
C |
3: 92,563,207 (GRCm39) |
S109G |
unknown |
Het |
| Lrp2 |
T |
G |
2: 69,343,677 (GRCm39) |
E894A |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,454,473 (GRCm39) |
V1081A |
possibly damaging |
Het |
| Mcub |
T |
C |
3: 129,710,752 (GRCm39) |
S227G |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,301,080 (GRCm39) |
I1318T |
probably benign |
Het |
| Mybl2 |
C |
T |
2: 162,914,626 (GRCm39) |
T248I |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,804,832 (GRCm39) |
H1441L |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,202,577 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,091,466 (GRCm39) |
V5339I |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,558,722 (GRCm39) |
S88T |
probably damaging |
Het |
| Nup155 |
C |
T |
15: 8,175,091 (GRCm39) |
Q963* |
probably null |
Het |
| Oas1c |
A |
C |
5: 120,940,207 (GRCm39) |
L320V |
possibly damaging |
Het |
| Or10ak14 |
C |
T |
4: 118,610,884 (GRCm39) |
A286T |
probably benign |
Het |
| Or10d1b |
G |
A |
9: 39,613,423 (GRCm39) |
T214I |
probably damaging |
Het |
| Or1o11 |
C |
A |
17: 37,757,196 (GRCm39) |
S261R |
probably damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,516 (GRCm39) |
Y282C |
probably damaging |
Het |
| Or4a81 |
A |
G |
2: 89,619,453 (GRCm39) |
M81T |
probably benign |
Het |
| Or52b4i |
T |
C |
7: 102,191,461 (GRCm39) |
I106T |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,057 (GRCm39) |
S355G |
possibly damaging |
Het |
| Pde11a |
C |
T |
2: 75,853,117 (GRCm39) |
V834I |
possibly damaging |
Het |
| Pdzrn4 |
A |
T |
15: 92,667,948 (GRCm39) |
D700V |
possibly damaging |
Het |
| Pif1 |
C |
A |
9: 65,495,630 (GRCm39) |
P180Q |
probably benign |
Het |
| Pkig |
G |
T |
2: 163,563,083 (GRCm39) |
E5* |
probably null |
Het |
| Pla2r1 |
T |
A |
2: 60,365,346 (GRCm39) |
M75L |
probably damaging |
Het |
| Pllp |
T |
C |
8: 95,402,871 (GRCm39) |
S157G |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,061,947 (GRCm39) |
H566Q |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,674,961 (GRCm39) |
D646G |
probably benign |
Het |
| Rab11fip5 |
T |
A |
6: 85,318,538 (GRCm39) |
T784S |
probably benign |
Het |
| Rad51ap2 |
T |
G |
12: 11,507,982 (GRCm39) |
S635A |
probably benign |
Het |
| Ranbp17 |
A |
T |
11: 33,234,114 (GRCm39) |
|
probably null |
Het |
| Rce1 |
C |
T |
19: 4,675,081 (GRCm39) |
G111D |
probably damaging |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
| Rimbp2 |
C |
T |
5: 128,865,435 (GRCm39) |
V631I |
probably benign |
Het |
| Scai |
T |
C |
2: 39,015,148 (GRCm39) |
T94A |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,538,768 (GRCm39) |
A796T |
probably benign |
Het |
| Slc6a11 |
C |
A |
6: 114,222,644 (GRCm39) |
Y546* |
probably null |
Het |
| Slc7a2 |
T |
C |
8: 41,365,686 (GRCm39) |
S506P |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,080,066 (GRCm39) |
N1098K |
possibly damaging |
Het |
| Tmem177 |
G |
A |
1: 119,837,971 (GRCm39) |
A236V |
probably damaging |
Het |
| Togaram1 |
T |
A |
12: 65,043,749 (GRCm39) |
D1249E |
probably damaging |
Het |
| Trav17 |
A |
T |
14: 54,044,096 (GRCm39) |
M1L |
probably damaging |
Het |
| Trim25 |
C |
A |
11: 88,906,563 (GRCm39) |
A433D |
possibly damaging |
Het |
| Trim69 |
T |
C |
2: 121,998,508 (GRCm39) |
F160S |
probably benign |
Het |
| Trio |
A |
T |
15: 27,747,999 (GRCm39) |
V1407E |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,668,657 (GRCm39) |
M753K |
probably damaging |
Het |
| Ttc12 |
G |
T |
9: 49,383,179 (GRCm39) |
A75E |
probably benign |
Het |
| Uchl4 |
A |
T |
9: 64,143,013 (GRCm39) |
I165L |
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,790,120 (GRCm39) |
L13Q |
unknown |
Het |
| Wwc2 |
G |
A |
8: 48,317,610 (GRCm39) |
R656W |
not run |
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 |
|
|
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'- GCATCCTGACACTTCTGTATAAAG -3'
(R):5'- GTAGATCTTTCCAAAGTGAAGCTG -3'
Sequencing Primer
(F):5'- GATTAAAAACTTCTAGGGACCAGC -3'
(R):5'- CTTTCCAAAGTGAAGCTGATGCG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation