Incidental Mutation 'K3955:Lars2'
ID |
67242 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lars2
|
Ensembl Gene |
ENSMUSG00000035202 |
Gene Name |
leucyl-tRNA synthetase, mitochondrial |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
K3955 (G3)
of strain
706
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
123196001-123291731 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123206842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 103
(V103A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038863]
[ENSMUST00000216843]
[ENSMUST00000217116]
|
AlphaFold |
Q8VDC0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038863
AA Change: V103A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036710 Gene: ENSMUSG00000035202 AA Change: V103A
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1
|
57 |
223 |
7.6e-24 |
PFAM |
Pfam:tRNA-synt_1g
|
83 |
239 |
9.3e-20 |
PFAM |
Pfam:tRNA-synt_1_2
|
269 |
430 |
1.1e-8 |
PFAM |
Pfam:tRNA-synt_1
|
434 |
609 |
5.6e-8 |
PFAM |
Pfam:tRNA-synt_1g
|
589 |
682 |
1.2e-6 |
PFAM |
Pfam:tRNA-synt_1
|
633 |
678 |
1.6e-7 |
PFAM |
Pfam:Anticodon_1
|
724 |
867 |
9.2e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214074
|
Predicted Effect |
unknown
Transcript: ENSMUST00000215464
AA Change: V14A
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216843
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217116
AA Change: V103A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.7054 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
100% (42/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
G |
A |
1: 89,815,326 (GRCm39) |
R738H |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,311,001 (GRCm39) |
E2G |
probably damaging |
Het |
Atad2b |
C |
A |
12: 5,004,536 (GRCm39) |
|
probably benign |
Het |
Atmin |
T |
A |
8: 117,683,775 (GRCm39) |
C478* |
probably null |
Het |
Calr |
T |
C |
8: 85,572,902 (GRCm39) |
Y57C |
probably damaging |
Het |
Cdh13 |
G |
A |
8: 119,401,843 (GRCm39) |
V82M |
probably damaging |
Het |
Ces3a |
A |
T |
8: 105,777,259 (GRCm39) |
|
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,721,293 (GRCm39) |
Y1854H |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 30,988,416 (GRCm39) |
M3429L |
probably benign |
Het |
Dscam |
A |
G |
16: 96,474,887 (GRCm39) |
F1225S |
probably benign |
Het |
E030025P04Rik |
G |
A |
11: 109,034,778 (GRCm39) |
P37S |
unknown |
Het |
Eral1 |
A |
T |
11: 77,966,847 (GRCm39) |
D189E |
probably damaging |
Het |
Fbxw14 |
G |
T |
9: 109,105,313 (GRCm39) |
P284Q |
possibly damaging |
Het |
Fcrl6 |
A |
G |
1: 172,425,251 (GRCm39) |
V260A |
probably benign |
Het |
Fezf2 |
A |
T |
14: 12,345,097 (GRCm38) |
F30Y |
probably damaging |
Het |
Gjb4 |
A |
T |
4: 127,245,293 (GRCm39) |
V216D |
probably benign |
Het |
Gm9758 |
G |
A |
5: 14,963,522 (GRCm39) |
|
probably benign |
Het |
Gm9758 |
C |
G |
5: 14,963,553 (GRCm39) |
V92L |
probably benign |
Het |
Gmps |
A |
C |
3: 63,908,954 (GRCm39) |
R485S |
probably damaging |
Het |
Gtdc1 |
C |
T |
2: 44,642,233 (GRCm39) |
|
probably null |
Het |
H2-Ob |
C |
T |
17: 34,460,158 (GRCm39) |
R19C |
probably damaging |
Het |
Mtrex |
A |
C |
13: 113,047,513 (GRCm39) |
Y277* |
probably null |
Het |
Ndnf |
G |
A |
6: 65,678,413 (GRCm39) |
|
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,703,375 (GRCm39) |
Y211C |
probably damaging |
Het |
Notch4 |
C |
T |
17: 34,787,436 (GRCm39) |
T332I |
probably damaging |
Het |
Or13c25 |
A |
G |
4: 52,911,081 (GRCm39) |
F238L |
probably damaging |
Het |
Or8g28 |
A |
C |
9: 39,169,926 (GRCm39) |
L14W |
probably damaging |
Het |
Or8g53 |
A |
G |
9: 39,683,469 (GRCm39) |
I209T |
probably benign |
Het |
Paf1 |
T |
C |
7: 28,096,350 (GRCm39) |
|
probably null |
Het |
Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
Pramel25 |
T |
C |
4: 143,521,710 (GRCm39) |
I442T |
possibly damaging |
Het |
Prkcq |
T |
C |
2: 11,251,604 (GRCm39) |
|
probably benign |
Het |
Proser3 |
G |
T |
7: 30,242,924 (GRCm39) |
P218T |
probably damaging |
Het |
Rccd1 |
G |
A |
7: 79,970,419 (GRCm39) |
S66F |
probably benign |
Het |
Recql |
G |
T |
6: 142,323,932 (GRCm39) |
S54* |
probably null |
Het |
Samd15 |
G |
T |
12: 87,247,534 (GRCm39) |
G73V |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,923,359 (GRCm39) |
N462S |
probably benign |
Het |
Syne2 |
G |
T |
12: 75,977,439 (GRCm39) |
A1296S |
probably damaging |
Het |
Tlk1 |
T |
C |
2: 70,552,045 (GRCm39) |
E542G |
possibly damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,892,755 (GRCm39) |
T232I |
probably benign |
Het |
Tnrc6c |
T |
A |
11: 117,651,564 (GRCm39) |
Y1696N |
probably damaging |
Het |
Uggt1 |
A |
G |
1: 36,201,434 (GRCm39) |
I1102T |
probably benign |
Het |
Vmn1r84 |
C |
T |
7: 12,095,884 (GRCm39) |
V270M |
probably damaging |
Het |
Wasf1 |
C |
T |
10: 40,812,191 (GRCm39) |
P327S |
unknown |
Het |
|
Other mutations in Lars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01743:Lars2
|
APN |
9 |
123,282,313 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01993:Lars2
|
APN |
9 |
123,224,008 (GRCm39) |
splice site |
probably benign |
|
IGL02155:Lars2
|
APN |
9 |
123,284,047 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02941:Lars2
|
APN |
9 |
123,288,650 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03090:Lars2
|
APN |
9 |
123,285,025 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03271:Lars2
|
APN |
9 |
123,288,549 (GRCm39) |
splice site |
probably null |
|
IGL03386:Lars2
|
APN |
9 |
123,282,455 (GRCm39) |
nonsense |
probably null |
|
IGL03410:Lars2
|
APN |
9 |
123,247,841 (GRCm39) |
missense |
possibly damaging |
0.87 |
ulrich
|
UTSW |
9 |
123,247,758 (GRCm39) |
missense |
probably damaging |
0.99 |
P0038:Lars2
|
UTSW |
9 |
123,206,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R0276:Lars2
|
UTSW |
9 |
123,267,186 (GRCm39) |
splice site |
probably benign |
|
R1671:Lars2
|
UTSW |
9 |
123,247,344 (GRCm39) |
missense |
probably benign |
0.02 |
R1829:Lars2
|
UTSW |
9 |
123,260,982 (GRCm39) |
missense |
probably benign |
0.00 |
R2219:Lars2
|
UTSW |
9 |
123,247,845 (GRCm39) |
missense |
probably damaging |
0.98 |
R2220:Lars2
|
UTSW |
9 |
123,247,845 (GRCm39) |
missense |
probably damaging |
0.98 |
R4610:Lars2
|
UTSW |
9 |
123,247,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R5027:Lars2
|
UTSW |
9 |
123,270,560 (GRCm39) |
missense |
probably benign |
0.38 |
R5195:Lars2
|
UTSW |
9 |
123,282,375 (GRCm39) |
missense |
probably damaging |
0.97 |
R5597:Lars2
|
UTSW |
9 |
123,284,047 (GRCm39) |
missense |
probably damaging |
0.99 |
R5756:Lars2
|
UTSW |
9 |
123,267,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R5783:Lars2
|
UTSW |
9 |
123,290,661 (GRCm39) |
missense |
probably benign |
|
R6045:Lars2
|
UTSW |
9 |
123,201,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R6235:Lars2
|
UTSW |
9 |
123,240,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R6323:Lars2
|
UTSW |
9 |
123,270,659 (GRCm39) |
nonsense |
probably null |
|
R6377:Lars2
|
UTSW |
9 |
123,283,825 (GRCm39) |
missense |
probably benign |
0.00 |
R6395:Lars2
|
UTSW |
9 |
123,200,990 (GRCm39) |
missense |
probably benign |
0.06 |
R7094:Lars2
|
UTSW |
9 |
123,288,650 (GRCm39) |
missense |
probably damaging |
0.99 |
R7144:Lars2
|
UTSW |
9 |
123,261,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R7233:Lars2
|
UTSW |
9 |
123,241,019 (GRCm39) |
nonsense |
probably null |
|
R7254:Lars2
|
UTSW |
9 |
123,284,028 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7350:Lars2
|
UTSW |
9 |
123,256,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R7413:Lars2
|
UTSW |
9 |
123,288,568 (GRCm39) |
missense |
probably benign |
0.30 |
R7614:Lars2
|
UTSW |
9 |
123,224,176 (GRCm39) |
missense |
|
|
R7683:Lars2
|
UTSW |
9 |
123,206,895 (GRCm39) |
critical splice donor site |
probably null |
|
R8000:Lars2
|
UTSW |
9 |
123,265,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R8061:Lars2
|
UTSW |
9 |
123,288,562 (GRCm39) |
missense |
probably benign |
|
R8355:Lars2
|
UTSW |
9 |
123,283,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R8364:Lars2
|
UTSW |
9 |
123,241,019 (GRCm39) |
nonsense |
probably null |
|
R8818:Lars2
|
UTSW |
9 |
123,221,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9007:Lars2
|
UTSW |
9 |
123,260,980 (GRCm39) |
nonsense |
probably null |
|
R9351:Lars2
|
UTSW |
9 |
123,265,366 (GRCm39) |
missense |
probably benign |
0.38 |
Z1177:Lars2
|
UTSW |
9 |
123,283,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCATTGGATCTCATGTGGATGCAG -3'
(R):5'- AACTGAGCTGGTCATGCTCACAC -3'
Sequencing Primer
(F):5'- GCTTGTCTGGAAAAACAGTCC -3'
(R):5'- TGGTCATGCTCACACTTAAGG -3'
|
Posted On |
2013-09-03 |