Incidental Mutation 'R5756:Lars2'
ID |
445052 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lars2
|
Ensembl Gene |
ENSMUSG00000035202 |
Gene Name |
leucyl-tRNA synthetase, mitochondrial |
Synonyms |
|
MMRRC Submission |
043359-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5756 (G1)
|
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 123267264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 529
(Y529H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038863]
[ENSMUST00000217116]
|
AlphaFold |
Q8VDC0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038863
AA Change: Y529H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036710 Gene: ENSMUSG00000035202 AA Change: Y529H
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 |
probably benign
Transcript: ENSMUST00000217116
AA Change: L491P
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
Meta Mutation Damage Score |
0.9593 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (60/60) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
A |
G |
9: 89,010,919 (GRCm39) |
|
noncoding transcript |
Het |
Aqp6 |
A |
T |
15: 99,500,623 (GRCm39) |
I183F |
probably damaging |
Het |
Asap1 |
A |
T |
15: 64,039,556 (GRCm39) |
M218K |
probably damaging |
Het |
Astn2 |
G |
A |
4: 66,037,425 (GRCm39) |
|
probably benign |
Het |
Bmp5 |
A |
G |
9: 75,683,649 (GRCm39) |
D92G |
probably benign |
Het |
Cables1 |
A |
G |
18: 12,074,410 (GRCm39) |
D511G |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,347,383 (GRCm39) |
M928T |
probably benign |
Het |
Calcoco1 |
T |
C |
15: 102,628,086 (GRCm39) |
N16S |
probably benign |
Het |
Catspere2 |
A |
T |
1: 177,943,793 (GRCm39) |
Q710L |
unknown |
Het |
Coro7 |
C |
T |
16: 4,450,148 (GRCm39) |
R567Q |
probably damaging |
Het |
Dgki |
C |
T |
6: 36,913,993 (GRCm39) |
|
probably benign |
Het |
Dusp11 |
T |
C |
6: 85,929,339 (GRCm39) |
I147V |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,293,221 (GRCm39) |
I1259T |
possibly damaging |
Het |
Elapor2 |
A |
C |
5: 9,512,995 (GRCm39) |
K996N |
probably damaging |
Het |
Etfdh |
T |
C |
3: 79,521,063 (GRCm39) |
I219V |
probably benign |
Het |
Ffar4 |
C |
T |
19: 38,102,406 (GRCm39) |
T347I |
probably damaging |
Het |
Fgf3 |
G |
A |
7: 144,396,688 (GRCm39) |
S234N |
probably benign |
Het |
Fnta |
A |
T |
8: 26,499,735 (GRCm39) |
I155N |
possibly damaging |
Het |
Gcm2 |
G |
A |
13: 41,263,372 (GRCm39) |
T20M |
probably damaging |
Het |
Ggt5 |
A |
T |
10: 75,440,607 (GRCm39) |
M243L |
probably benign |
Het |
Ggta1 |
T |
C |
2: 35,292,395 (GRCm39) |
Y304C |
probably damaging |
Het |
Gm5454 |
A |
G |
13: 103,492,855 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hrc |
T |
C |
7: 44,986,130 (GRCm39) |
V427A |
possibly damaging |
Het |
Ibtk |
C |
G |
9: 85,613,307 (GRCm39) |
V219L |
possibly damaging |
Het |
Ift140 |
A |
G |
17: 25,247,787 (GRCm39) |
H215R |
possibly damaging |
Het |
Itln1 |
A |
G |
1: 171,344,485 (GRCm39) |
|
probably benign |
Het |
Kif13b |
T |
C |
14: 64,973,754 (GRCm39) |
I368T |
probably damaging |
Het |
Lrrc55 |
G |
A |
2: 85,026,727 (GRCm39) |
T99I |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,371,410 (GRCm39) |
I4156N |
probably damaging |
Het |
Myo1c |
T |
G |
11: 75,549,240 (GRCm39) |
M137R |
probably benign |
Het |
Or51i1 |
T |
C |
7: 103,670,889 (GRCm39) |
D212G |
probably damaging |
Het |
Or6c8b |
A |
G |
10: 128,882,095 (GRCm39) |
V279A |
probably benign |
Het |
Or8b54 |
T |
A |
9: 38,686,554 (GRCm39) |
M1K |
probably null |
Het |
Pde7a |
A |
G |
3: 19,319,009 (GRCm39) |
V12A |
probably benign |
Het |
Phyhip |
T |
G |
14: 70,704,532 (GRCm39) |
C250W |
probably damaging |
Het |
Pisd |
G |
A |
5: 32,895,842 (GRCm39) |
T412I |
probably damaging |
Het |
Polr3c |
T |
C |
3: 96,621,450 (GRCm39) |
N444S |
probably damaging |
Het |
Sart1 |
T |
C |
19: 5,430,497 (GRCm39) |
E750G |
probably damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,940,204 (GRCm39) |
V675A |
probably damaging |
Het |
Slc4a11 |
G |
T |
2: 130,529,783 (GRCm39) |
D307E |
probably benign |
Het |
Slc6a16 |
A |
T |
7: 44,910,274 (GRCm39) |
I315F |
possibly damaging |
Het |
Smarca5 |
A |
C |
8: 81,437,233 (GRCm39) |
S708A |
probably benign |
Het |
Sv2c |
T |
C |
13: 96,122,475 (GRCm39) |
I434V |
probably benign |
Het |
Tars3 |
A |
G |
7: 65,325,724 (GRCm39) |
K433E |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,220,402 (GRCm39) |
I165F |
probably damaging |
Het |
Tep1 |
C |
T |
14: 51,074,836 (GRCm39) |
|
probably null |
Het |
Tex15 |
G |
A |
8: 34,065,861 (GRCm39) |
G1764S |
probably benign |
Het |
Tnfrsf19 |
A |
G |
14: 61,262,224 (GRCm39) |
L13P |
probably benign |
Het |
Tnnt3 |
G |
A |
7: 142,056,495 (GRCm39) |
|
probably null |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Usp24 |
T |
A |
4: 106,219,680 (GRCm39) |
I597K |
probably damaging |
Het |
Usp40 |
C |
T |
1: 87,879,413 (GRCm39) |
R960Q |
possibly damaging |
Het |
Vps53 |
A |
T |
11: 75,983,156 (GRCm39) |
|
probably benign |
Het |
Xylt1 |
C |
T |
7: 117,249,927 (GRCm39) |
T699I |
probably damaging |
Het |
Zfp81 |
A |
C |
17: 33,553,307 (GRCm39) |
Y502* |
probably null |
Het |
Zfyve26 |
T |
A |
12: 79,311,131 (GRCm39) |
H145L |
probably damaging |
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 |
K3955:Lars2
|
UTSW |
9 |
123,206,842 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AAGATCCTTTTGGGGATTCCG -3'
(R):5'- TTCTGAGTGGGCATGTGCAC -3'
Sequencing Primer
(F):5'- GAGCATCCTCACTCAAACTTACACTG -3'
(R):5'- CTGAGGCAGTGAAAGCTTTGCTAC -3'
|
Posted On |
2016-11-21 |