Incidental Mutation 'R7683:Lars2'
ID |
592882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lars2
|
Ensembl Gene |
ENSMUSG00000035202 |
Gene Name |
leucyl-tRNA synthetase, mitochondrial |
Synonyms |
|
MMRRC Submission |
045749-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7683 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
123196001-123291731 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 123206895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038863]
[ENSMUST00000216843]
[ENSMUST00000217116]
|
AlphaFold |
Q8VDC0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038863
|
SMART Domains |
Protein: ENSMUSP00000036710 Gene: ENSMUSG00000035202
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 null
Transcript: ENSMUST00000215464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216843
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217116
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
A |
G |
13: 59,660,312 (GRCm39) |
C305R |
probably damaging |
Het |
Anpep |
C |
A |
7: 79,488,946 (GRCm39) |
V381L |
probably damaging |
Het |
Ap5s1 |
T |
C |
2: 131,054,627 (GRCm39) |
L146P |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,629,690 (GRCm39) |
I599V |
probably damaging |
Het |
Arpc2 |
T |
C |
1: 74,302,973 (GRCm39) |
Y250H |
probably damaging |
Het |
Baz1b |
T |
A |
5: 135,246,582 (GRCm39) |
M677K |
probably damaging |
Het |
Begain |
C |
T |
12: 108,999,413 (GRCm39) |
A453T |
unknown |
Het |
C1ql4 |
T |
C |
15: 98,985,092 (GRCm39) |
D173G |
probably benign |
Het |
Card11 |
T |
G |
5: 140,881,781 (GRCm39) |
N461T |
probably benign |
Het |
Ccdc9 |
T |
C |
7: 16,018,287 (GRCm39) |
D7G |
probably damaging |
Het |
Ces2a |
T |
C |
8: 105,463,744 (GRCm39) |
V152A |
probably benign |
Het |
Chl1 |
G |
A |
6: 103,668,613 (GRCm39) |
A449T |
possibly damaging |
Het |
Col11a1 |
G |
T |
3: 113,907,385 (GRCm39) |
G638W |
unknown |
Het |
Cse1l |
A |
T |
2: 166,764,708 (GRCm39) |
T171S |
probably benign |
Het |
D2hgdh |
T |
A |
1: 93,766,687 (GRCm39) |
|
probably null |
Het |
Dlg4 |
T |
C |
11: 69,930,680 (GRCm39) |
Y432H |
possibly damaging |
Het |
Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
F11 |
T |
A |
8: 45,702,545 (GRCm39) |
Q251L |
probably damaging |
Het |
Gtf2f1 |
T |
A |
17: 57,312,458 (GRCm39) |
E195V |
possibly damaging |
Het |
Hap1 |
A |
T |
11: 100,242,374 (GRCm39) |
L376Q |
probably damaging |
Het |
Hars2 |
T |
A |
18: 36,921,289 (GRCm39) |
I234N |
probably damaging |
Het |
Hcfc2 |
T |
C |
10: 82,535,063 (GRCm39) |
V29A |
probably benign |
Het |
Hp |
C |
T |
8: 110,305,731 (GRCm39) |
|
probably benign |
Het |
Hrh1 |
T |
C |
6: 114,456,748 (GRCm39) |
S10P |
probably benign |
Het |
Kcnmb2 |
A |
G |
3: 32,252,465 (GRCm39) |
Y222C |
probably damaging |
Het |
Kdm3a |
A |
G |
6: 71,576,438 (GRCm39) |
V792A |
probably benign |
Het |
Kif13b |
G |
A |
14: 64,994,956 (GRCm39) |
V903I |
probably benign |
Het |
Med7 |
A |
G |
11: 46,331,687 (GRCm39) |
D94G |
possibly damaging |
Het |
Mier3 |
A |
G |
13: 111,841,846 (GRCm39) |
T136A |
probably benign |
Het |
Nin |
T |
C |
12: 70,124,956 (GRCm39) |
E122G |
|
Het |
Or5h18 |
G |
T |
16: 58,847,469 (GRCm39) |
T267K |
probably benign |
Het |
Or6k14 |
A |
G |
1: 173,927,042 (GRCm39) |
Q6R |
probably benign |
Het |
Oxsr1 |
T |
C |
9: 119,070,821 (GRCm39) |
I489V |
probably benign |
Het |
Pdcd6ip |
A |
T |
9: 113,516,763 (GRCm39) |
L216Q |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,553,364 (GRCm39) |
C379* |
probably null |
Het |
Pramel24 |
A |
T |
4: 143,453,284 (GRCm39) |
K131* |
probably null |
Het |
Ptpn13 |
T |
A |
5: 103,713,018 (GRCm39) |
C1714S |
probably benign |
Het |
Pum2 |
G |
A |
12: 8,778,922 (GRCm39) |
R498Q |
possibly damaging |
Het |
Sema3d |
T |
A |
5: 12,623,823 (GRCm39) |
Y577* |
probably null |
Het |
Slc29a3 |
G |
A |
10: 60,552,145 (GRCm39) |
P300S |
not run |
Het |
Slc5a4b |
A |
G |
10: 75,899,906 (GRCm39) |
V444A |
probably damaging |
Het |
Smad9 |
A |
G |
3: 54,696,685 (GRCm39) |
E250G |
probably damaging |
Het |
Srsf7 |
A |
G |
17: 80,514,703 (GRCm39) |
|
probably benign |
Het |
Thsd7b |
A |
G |
1: 129,523,683 (GRCm39) |
Y239C |
probably damaging |
Het |
Triml2 |
C |
A |
8: 43,638,325 (GRCm39) |
Q98K |
probably damaging |
Het |
Txndc11 |
A |
T |
16: 10,902,099 (GRCm39) |
L705Q |
probably damaging |
Het |
Vmn1r22 |
A |
G |
6: 57,877,404 (GRCm39) |
M191T |
probably damaging |
Het |
Vmn2r89 |
A |
T |
14: 51,692,651 (GRCm39) |
K151N |
probably benign |
Het |
Vwa5a |
A |
G |
9: 38,646,125 (GRCm39) |
I498V |
probably damaging |
Het |
Zfp459 |
T |
C |
13: 67,556,615 (GRCm39) |
H156R |
probably damaging |
Het |
Zscan18 |
T |
A |
7: 12,503,532 (GRCm39) |
K676* |
probably null |
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 |
|
|
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'- GCATACAGAGATCCCAGAAAATATG -3'
(R):5'- GAAAGGAGCAGTGTTACCCG -3'
Sequencing Primer
(F):5'- CCATACCCTTCTGGCAAG -3'
(R):5'- AGCGTAACATCTACCTCTTGCAG -3'
|
Posted On |
2019-11-12 |