Incidental Mutation 'R6323:Lars2'
| ID |
510207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars2
|
| Ensembl Gene |
ENSMUSG00000035202 |
| Gene Name |
leucyl-tRNA synthetase, mitochondrial |
| Synonyms |
|
| MMRRC Submission |
044477-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6323 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123196001-123291731 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 123270659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 584
(K584*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038863]
[ENSMUST00000217116]
|
| AlphaFold |
Q8VDC0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038863
AA Change: K584*
|
| SMART Domains |
Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: K584*
| 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
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,436,568 (GRCm39) |
T171A |
unknown |
Het |
| Akr1c6 |
A |
G |
13: 4,497,017 (GRCm39) |
K153R |
possibly damaging |
Het |
| Ano1 |
T |
A |
7: 144,165,423 (GRCm39) |
I601F |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,676,404 (GRCm39) |
Y8C |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,962,286 (GRCm39) |
I1816V |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,263,577 (GRCm39) |
T1294S |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,026,161 (GRCm39) |
S952P |
possibly damaging |
Het |
| Cdc20 |
T |
C |
4: 118,292,761 (GRCm39) |
N329S |
probably damaging |
Het |
| Ceacam1 |
A |
C |
7: 25,174,076 (GRCm39) |
L193R |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,305,337 (GRCm39) |
S143P |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,548,395 (GRCm39) |
D1342G |
possibly damaging |
Het |
| Chd5 |
C |
A |
4: 152,451,791 (GRCm39) |
T701K |
probably damaging |
Het |
| Cpt1b |
C |
A |
15: 89,303,266 (GRCm39) |
M596I |
probably benign |
Het |
| Ctrb1 |
A |
G |
8: 112,416,223 (GRCm39) |
V21A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,203,889 (GRCm39) |
V579I |
probably benign |
Het |
| Dlc1 |
T |
C |
8: 37,405,537 (GRCm39) |
E84G |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,325,390 (GRCm39) |
D254G |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
A |
G |
3: 107,925,063 (GRCm39) |
V10A |
probably benign |
Het |
| Krt13 |
C |
A |
11: 100,011,976 (GRCm39) |
A116S |
probably damaging |
Het |
| Lrrc43 |
G |
T |
5: 123,641,949 (GRCm39) |
G600W |
probably damaging |
Het |
| Madd |
G |
T |
2: 90,991,783 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
A |
G |
12: 73,214,878 (GRCm39) |
D65G |
probably damaging |
Het |
| Nsmf |
A |
G |
2: 24,945,063 (GRCm39) |
N42S |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,046 (GRCm39) |
L23P |
possibly damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,645 (GRCm39) |
L48P |
probably damaging |
Het |
| Palld |
A |
T |
8: 62,173,727 (GRCm39) |
W311R |
probably damaging |
Het |
| Pax1 |
T |
A |
2: 147,210,321 (GRCm39) |
V352E |
probably damaging |
Het |
| Rnf2 |
T |
C |
1: 151,348,967 (GRCm39) |
K51R |
probably damaging |
Het |
| Rpl7l1 |
C |
A |
17: 47,093,564 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
G |
A |
10: 78,648,721 (GRCm39) |
G481S |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,118,916 (GRCm39) |
T4698I |
probably benign |
Het |
| Trav6-1 |
T |
C |
14: 52,876,248 (GRCm39) |
V56A |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,650,522 (GRCm39) |
C103S |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,267,303 (GRCm39) |
H305L |
probably damaging |
Het |
| Zfp593 |
A |
G |
4: 133,972,224 (GRCm39) |
V94A |
probably benign |
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 |
|
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'- CTGGCACTAGTATTTTCAAGGGATG -3'
(R):5'- AGAGGTTTGTGTAAATGGACCTC -3'
Sequencing Primer
(F):5'- TTTTCAAGGGATGAGCACACATAGC -3'
(R):5'- TGGACCTCAAATTGTAAAGACCTAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation