Incidental Mutation 'R9351:Lars2'
| ID |
708077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars2
|
| Ensembl Gene |
ENSMUSG00000035202 |
| Gene Name |
leucyl-tRNA synthetase, mitochondrial |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123196001-123291731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123265366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 474
(Q474R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038863]
[ENSMUST00000217116]
|
| AlphaFold |
Q8VDC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038863
AA Change: Q474R
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: Q474R
| 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 |
silent
Transcript: ENSMUST00000217116
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 87,066,068 (GRCm39) |
T84A |
probably benign |
Het |
| Abca17 |
G |
A |
17: 24,510,751 (GRCm39) |
S909L |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,169,929 (GRCm39) |
Y371F |
possibly damaging |
Het |
| Adcy9 |
A |
T |
16: 4,236,228 (GRCm39) |
S394R |
probably damaging |
Het |
| Ahcyl1 |
T |
C |
3: 107,575,011 (GRCm39) |
N444S |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,985,232 (GRCm39) |
D2172A |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,130,576 (GRCm39) |
D421N |
probably benign |
Het |
| Brd1 |
T |
A |
15: 88,614,307 (GRCm39) |
E196V |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,300 (GRCm39) |
D317G |
probably damaging |
Het |
| Ccdc96 |
T |
C |
5: 36,642,069 (GRCm39) |
I25T |
unknown |
Het |
| Clgn |
A |
G |
8: 84,153,218 (GRCm39) |
R607G |
possibly damaging |
Het |
| Clp1 |
T |
C |
2: 84,554,195 (GRCm39) |
K325E |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,975,185 (GRCm39) |
I52K |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,176,911 (GRCm39) |
T16I |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,771 (GRCm39) |
I411F |
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,477,639 (GRCm39) |
F711L |
probably benign |
Het |
| Esr1 |
G |
A |
10: 4,696,763 (GRCm39) |
W204* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,172,127 (GRCm39) |
L2862P |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,054,068 (GRCm39) |
E159G |
probably damaging |
Het |
| Gsto2 |
T |
A |
19: 47,874,608 (GRCm39) |
C243S |
possibly damaging |
Het |
| Heg1 |
A |
G |
16: 33,545,867 (GRCm39) |
H206R |
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,750,133 (GRCm39) |
V862A |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,615,107 (GRCm39) |
H497Y |
probably benign |
Het |
| Irf5 |
A |
T |
6: 29,531,317 (GRCm39) |
N61I |
possibly damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Kcnj12 |
C |
T |
11: 60,960,673 (GRCm39) |
H324Y |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Lctl |
T |
C |
9: 64,040,473 (GRCm39) |
F472S |
possibly damaging |
Het |
| Map4k2 |
T |
C |
19: 6,401,223 (GRCm39) |
S590P |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 13,050,757 (GRCm39) |
L337F |
possibly damaging |
Het |
| Mvp |
A |
G |
7: 126,595,435 (GRCm39) |
V225A |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,065,910 (GRCm39) |
D241E |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,897,021 (GRCm39) |
D52E |
probably benign |
Het |
| Pagr1a |
A |
T |
7: 126,616,073 (GRCm39) |
H7Q |
probably damaging |
Het |
| Parp8 |
G |
T |
13: 117,000,781 (GRCm39) |
Q787K |
probably damaging |
Het |
| Pcdhb2 |
C |
A |
18: 37,429,369 (GRCm39) |
N90K |
probably damaging |
Het |
| Pde6h |
A |
G |
6: 136,936,332 (GRCm39) |
K25R |
probably benign |
Het |
| Prr35 |
G |
A |
17: 26,166,118 (GRCm39) |
Q390* |
probably null |
Het |
| Psd3 |
C |
A |
8: 68,413,301 (GRCm39) |
A410S |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,617,311 (GRCm39) |
N8S |
probably benign |
Het |
| Rnf115 |
T |
C |
3: 96,695,994 (GRCm39) |
L260S |
probably damaging |
Het |
| Sdsl |
A |
T |
5: 120,601,159 (GRCm39) |
Y38N |
probably benign |
Het |
| Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,047 (GRCm39) |
Y1177H |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,816,900 (GRCm39) |
V147I |
probably benign |
Het |
| Tmed3 |
A |
T |
9: 89,584,980 (GRCm39) |
F92I |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,832,086 (GRCm39) |
T357A |
probably damaging |
Het |
| Trbv14 |
A |
T |
6: 41,112,428 (GRCm39) |
D75V |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,262 (GRCm39) |
V190A |
probably benign |
Het |
| Vmn2r115 |
A |
T |
17: 23,578,482 (GRCm39) |
I652F |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,016,333 (GRCm39) |
M266L |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,143,057 (GRCm39) |
I198V |
probably benign |
Het |
| Wdr27 |
G |
A |
17: 15,128,833 (GRCm39) |
A540V |
possibly damaging |
Het |
| Zfp26 |
A |
C |
9: 20,349,447 (GRCm39) |
Y372* |
probably null |
Het |
| Zfp286 |
A |
G |
11: 62,670,801 (GRCm39) |
V424A |
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 |
|
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 |
|
|
Z1177:Lars2
|
UTSW |
9 |
123,283,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2022-04-18 |
Incidental Mutation