Incidental Mutation 'IGL00596:Iars2'
| ID |
13544 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Iars2
|
| Ensembl Gene |
ENSMUSG00000026618 |
| Gene Name |
isoleucine-tRNA synthetase 2, mitochondrial |
| Synonyms |
2010002H18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00596
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
185018839-185061615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 185048151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 527
(V527A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027921]
[ENSMUST00000110974]
[ENSMUST00000110975]
|
| AlphaFold |
Q8BIJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027921
AA Change: V527A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: V527A
| 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 |
noncoding transcript
Transcript: ENSMUST00000083628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083647
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110974
AA Change: V527A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106601
Gene: ENSMUSG00000026618
AA Change: V527A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
87 |
552 |
2e-130 |
PFAM |
|
Pfam:tRNA-synt_1g
|
113 |
269 |
2.2e-17 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
293 |
462 |
9e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110975
AA Change: V527A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618
AA Change: V527A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
87 |
712 |
1.2e-171 |
PFAM |
|
Pfam:tRNA-synt_1g
|
113 |
269 |
3.4e-17 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
293 |
462 |
1.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192375
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
T |
6: 128,547,030 (GRCm39) |
N366K |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,794,314 (GRCm39) |
R445Q |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,484,503 (GRCm39) |
I446T |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,868,810 (GRCm39) |
N591Y |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,306,886 (GRCm39) |
R868G |
possibly damaging |
Het |
| Dkk2 |
A |
T |
3: 131,879,564 (GRCm39) |
D81V |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,414,899 (GRCm39) |
|
probably benign |
Het |
| Dym |
T |
A |
18: 75,252,320 (GRCm39) |
V362D |
probably benign |
Het |
| Epm2a |
A |
T |
10: 11,324,384 (GRCm39) |
|
probably null |
Het |
| Grid2 |
G |
T |
6: 64,510,688 (GRCm39) |
A773S |
possibly damaging |
Het |
| Kcnj16 |
T |
C |
11: 110,915,349 (GRCm39) |
Y4H |
probably damaging |
Het |
| Krt6a |
T |
A |
15: 101,602,665 (GRCm39) |
I7F |
possibly damaging |
Het |
| Myo6 |
T |
G |
9: 80,189,025 (GRCm39) |
F757V |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,220,900 (GRCm39) |
L13P |
probably damaging |
Het |
| Nr2c2 |
A |
T |
6: 92,126,700 (GRCm39) |
K63M |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,466,576 (GRCm39) |
G1511D |
probably benign |
Het |
| Pomgnt2 |
A |
T |
9: 121,812,191 (GRCm39) |
W197R |
probably benign |
Het |
| Rint1 |
G |
A |
5: 24,016,863 (GRCm39) |
V543M |
probably damaging |
Het |
| Rnd2 |
G |
A |
11: 101,362,017 (GRCm39) |
R190H |
possibly damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,885,178 (GRCm39) |
S354G |
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,141,680 (GRCm39) |
I235V |
probably benign |
Het |
| Steap4 |
G |
A |
5: 8,026,979 (GRCm39) |
R314H |
probably damaging |
Het |
| Ticrr |
A |
C |
7: 79,327,041 (GRCm39) |
N583T |
probably damaging |
Het |
| Tmem25 |
T |
A |
9: 44,706,816 (GRCm39) |
|
probably benign |
Het |
| Vps8 |
C |
T |
16: 21,267,162 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,345,226 (GRCm39) |
K2489R |
probably benign |
Het |
| Xlr4b |
T |
A |
X: 72,263,577 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Iars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R8543:Iars2
|
UTSW |
1 |
185,019,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation