Incidental Mutation 'R8543:Iars2'
ID |
659452 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iars2
|
Ensembl Gene |
ENSMUSG00000026618 |
Gene Name |
isoleucine-tRNA synthetase 2, mitochondrial |
Synonyms |
2010002H18Rik |
MMRRC Submission |
068508-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8543 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
185018839-185061615 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 185019341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 982
(T982A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027921
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027921]
[ENSMUST00000069652]
[ENSMUST00000194740]
|
AlphaFold |
Q8BIJ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027921
AA Change: T982A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027921 Gene: ENSMUSG00000026618 AA Change: T982A
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
Pfam:tRNA-synt_1
|
87 |
712 |
3.6e-172 |
PFAM |
Pfam:tRNA-synt_1g
|
112 |
268 |
7e-15 |
PFAM |
Pfam:tRNA-synt_1_2
|
334 |
462 |
3.8e-7 |
PFAM |
Pfam:Anticodon_1
|
756 |
920 |
1.3e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069652
|
SMART Domains |
Protein: ENSMUSP00000066325 Gene: ENSMUSG00000039318
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
Pfam:RAB3GAP2_N
|
73 |
497 |
1.3e-167 |
PFAM |
low complexity region
|
667 |
686 |
N/A |
INTRINSIC |
Pfam:RAB3GAP2_C
|
767 |
1366 |
3.2e-245 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194740
|
SMART Domains |
Protein: ENSMUSP00000141608 Gene: ENSMUSG00000039318
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
Pfam:RAB3GAP2_N
|
73 |
497 |
1.3e-157 |
PFAM |
low complexity region
|
667 |
686 |
N/A |
INTRINSIC |
Pfam:RAB3GAP2_C
|
766 |
1346 |
2.5e-233 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
96% (47/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
T |
A |
17: 43,624,097 (GRCm39) |
L839Q |
probably null |
Het |
Ampd1 |
T |
A |
3: 102,986,486 (GRCm39) |
F55Y |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,838,266 (GRCm39) |
E891G |
probably damaging |
Het |
Ankrd13c |
A |
G |
3: 157,709,712 (GRCm39) |
|
probably null |
Het |
Ankrd63 |
A |
G |
2: 118,533,604 (GRCm39) |
|
probably benign |
Het |
Arhgap30 |
T |
C |
1: 171,232,530 (GRCm39) |
S392P |
probably damaging |
Het |
Arhgef11 |
A |
T |
3: 87,589,181 (GRCm39) |
K16M |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,872,860 (GRCm39) |
V373A |
probably damaging |
Het |
Blm |
A |
G |
7: 80,143,964 (GRCm39) |
M822T |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,654,713 (GRCm39) |
N102D |
probably benign |
Het |
Cdk14 |
A |
T |
5: 5,430,079 (GRCm39) |
M16K |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,738,122 (GRCm39) |
Y2574H |
probably damaging |
Het |
Coro1a |
C |
A |
7: 126,301,188 (GRCm39) |
C104F |
probably damaging |
Het |
D130043K22Rik |
T |
A |
13: 25,073,852 (GRCm39) |
L977Q |
probably benign |
Het |
Dcaf1 |
T |
G |
9: 106,735,277 (GRCm39) |
S742A |
probably benign |
Het |
Dnajb11 |
A |
T |
16: 22,681,335 (GRCm39) |
I38L |
probably benign |
Het |
Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,031,643 (GRCm39) |
H2476P |
probably damaging |
Het |
Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
Gm14326 |
G |
A |
2: 177,587,452 (GRCm39) |
R515W |
probably damaging |
Het |
Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
Gpr182 |
T |
C |
10: 127,586,861 (GRCm39) |
H30R |
probably benign |
Het |
Gprc5c |
T |
A |
11: 114,755,094 (GRCm39) |
V257E |
probably damaging |
Het |
Ighg2b |
C |
A |
12: 113,270,552 (GRCm39) |
A193S |
probably damaging |
Het |
Izumo1 |
T |
A |
7: 45,275,678 (GRCm39) |
V329E |
possibly damaging |
Het |
Kcnj6 |
A |
T |
16: 94,563,250 (GRCm39) |
V398E |
possibly damaging |
Het |
Lef1 |
T |
A |
3: 130,909,138 (GRCm39) |
N117K |
possibly damaging |
Het |
Ltbp4 |
T |
C |
7: 27,024,666 (GRCm39) |
S655G |
possibly damaging |
Het |
Magi3 |
A |
T |
3: 104,126,984 (GRCm39) |
I100N |
probably damaging |
Het |
Mettl17 |
G |
A |
14: 52,126,257 (GRCm39) |
A222T |
probably benign |
Het |
Notch4 |
A |
G |
17: 34,787,394 (GRCm39) |
E318G |
probably damaging |
Het |
Nqo2 |
A |
T |
13: 34,169,297 (GRCm39) |
|
probably null |
Het |
Or8k31-ps1 |
A |
T |
2: 86,356,386 (GRCm39) |
M45K |
probably damaging |
Het |
Ptpn18 |
T |
C |
1: 34,511,229 (GRCm39) |
S324P |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rin1 |
A |
G |
19: 5,102,100 (GRCm39) |
D203G |
probably damaging |
Het |
Serpinb9c |
T |
A |
13: 33,340,417 (GRCm39) |
E128V |
probably damaging |
Het |
Slc3a1 |
C |
A |
17: 85,335,925 (GRCm39) |
N22K |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Tmco4 |
G |
T |
4: 138,781,251 (GRCm39) |
V472L |
probably benign |
Het |
Tmem132d |
T |
C |
5: 128,345,799 (GRCm39) |
E241G |
probably benign |
Het |
Trim17 |
T |
A |
11: 58,862,281 (GRCm39) |
S438T |
probably damaging |
Het |
Trmt44 |
T |
C |
5: 35,732,374 (GRCm39) |
R6G |
probably benign |
Het |
Vcl |
G |
T |
14: 21,045,127 (GRCm39) |
L277F |
probably benign |
Het |
Vmn2r68 |
C |
T |
7: 84,883,648 (GRCm39) |
M152I |
probably benign |
Het |
Vmn2r94 |
C |
T |
17: 18,463,984 (GRCm39) |
V769I |
possibly damaging |
Het |
Vps13d |
G |
T |
4: 144,743,353 (GRCm39) |
S3027* |
probably null |
Het |
Zfp282 |
A |
G |
6: 47,881,561 (GRCm39) |
Q416R |
probably benign |
Het |
Zfp668 |
A |
G |
7: 127,466,392 (GRCm39) |
L264P |
probably damaging |
Het |
Zfp747 |
A |
G |
7: 126,973,655 (GRCm39) |
Y172H |
probably damaging |
Het |
|
Other mutations in Iars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00596:Iars2
|
APN |
1 |
185,048,151 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00906:Iars2
|
APN |
1 |
185,028,600 (GRCm39) |
splice site |
probably benign |
|
IGL01287:Iars2
|
APN |
1 |
185,028,625 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01814:Iars2
|
APN |
1 |
185,034,972 (GRCm39) |
nonsense |
probably null |
|
IGL02016:Iars2
|
APN |
1 |
185,035,503 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02995:Iars2
|
APN |
1 |
185,035,498 (GRCm39) |
missense |
probably benign |
|
IGL03002:Iars2
|
APN |
1 |
185,055,013 (GRCm39) |
splice site |
probably null |
|
IGL03248:Iars2
|
APN |
1 |
185,023,629 (GRCm39) |
unclassified |
probably benign |
|
R0304:Iars2
|
UTSW |
1 |
185,019,353 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0711:Iars2
|
UTSW |
1 |
185,054,585 (GRCm39) |
splice site |
probably benign |
|
R0783:Iars2
|
UTSW |
1 |
185,053,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R0990:Iars2
|
UTSW |
1 |
185,050,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R1867:Iars2
|
UTSW |
1 |
185,050,765 (GRCm39) |
missense |
probably benign |
0.01 |
R1868:Iars2
|
UTSW |
1 |
185,050,765 (GRCm39) |
missense |
probably benign |
0.01 |
R1957:Iars2
|
UTSW |
1 |
185,027,868 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2378:Iars2
|
UTSW |
1 |
185,059,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R3784:Iars2
|
UTSW |
1 |
185,019,328 (GRCm39) |
missense |
probably benign |
0.17 |
R4061:Iars2
|
UTSW |
1 |
185,035,583 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4334:Iars2
|
UTSW |
1 |
185,035,591 (GRCm39) |
missense |
probably benign |
0.35 |
R4708:Iars2
|
UTSW |
1 |
185,021,554 (GRCm39) |
missense |
probably benign |
0.00 |
R4723:Iars2
|
UTSW |
1 |
185,048,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R4729:Iars2
|
UTSW |
1 |
185,048,248 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4851:Iars2
|
UTSW |
1 |
185,059,845 (GRCm39) |
missense |
probably damaging |
0.99 |
R5033:Iars2
|
UTSW |
1 |
185,050,125 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5215:Iars2
|
UTSW |
1 |
185,026,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R5260:Iars2
|
UTSW |
1 |
185,055,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R5286:Iars2
|
UTSW |
1 |
185,055,318 (GRCm39) |
intron |
probably benign |
|
R5614:Iars2
|
UTSW |
1 |
185,021,705 (GRCm39) |
missense |
probably benign |
0.00 |
R6659:Iars2
|
UTSW |
1 |
185,020,273 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6838:Iars2
|
UTSW |
1 |
185,061,342 (GRCm39) |
missense |
probably damaging |
0.98 |
R7057:Iars2
|
UTSW |
1 |
185,021,564 (GRCm39) |
missense |
probably benign |
0.03 |
R7462:Iars2
|
UTSW |
1 |
185,055,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R7690:Iars2
|
UTSW |
1 |
185,053,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R8021:Iars2
|
UTSW |
1 |
185,054,654 (GRCm39) |
missense |
probably benign |
0.05 |
R8097:Iars2
|
UTSW |
1 |
185,061,586 (GRCm39) |
unclassified |
probably benign |
|
R8198:Iars2
|
UTSW |
1 |
185,029,703 (GRCm39) |
missense |
probably benign |
0.19 |
R8283:Iars2
|
UTSW |
1 |
185,020,288 (GRCm39) |
nonsense |
probably null |
|
R8710:Iars2
|
UTSW |
1 |
185,027,783 (GRCm39) |
missense |
probably benign |
0.13 |
R8713:Iars2
|
UTSW |
1 |
185,023,615 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8856:Iars2
|
UTSW |
1 |
185,028,621 (GRCm39) |
missense |
probably benign |
0.10 |
R9206:Iars2
|
UTSW |
1 |
185,050,146 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9304:Iars2
|
UTSW |
1 |
185,055,400 (GRCm39) |
nonsense |
probably null |
|
R9435:Iars2
|
UTSW |
1 |
185,034,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R9634:Iars2
|
UTSW |
1 |
185,027,727 (GRCm39) |
makesense |
probably null |
|
Z1177:Iars2
|
UTSW |
1 |
185,048,092 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTTGGATTTCTTTCTAGGGAACTG -3'
(R):5'- ATGTTAGACACGTGGGAGGC -3'
Sequencing Primer
(F):5'- GATTTCTTTCTAGGGAACTGTCTAAC -3'
(R):5'- TTGGGAGGAGCGTCCAC -3'
|
Posted On |
2021-01-18 |