Incidental Mutation 'IGL02016:Iars2'
| ID |
183728 |
| 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 # |
IGL02016
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
185018839-185061615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 185035503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 579
(L579R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027921]
[ENSMUST00000110975]
|
| AlphaFold |
Q8BIJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027921
AA Change: L579R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: L579R
| 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 damaging
Transcript: ENSMUST00000110975
AA Change: L579R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618
AA Change: L579R
| 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 |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
C |
A |
2: 127,028,875 (GRCm39) |
G108V |
probably damaging |
Het |
| A2ml1 |
T |
C |
6: 128,535,298 (GRCm39) |
E804G |
probably damaging |
Het |
| Abcg4 |
G |
A |
9: 44,198,647 (GRCm39) |
T35M |
probably damaging |
Het |
| Acad9 |
A |
T |
3: 36,142,635 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,545,572 (GRCm39) |
D5571G |
probably damaging |
Het |
| App |
T |
A |
16: 84,853,409 (GRCm39) |
D223V |
unknown |
Het |
| Arhgap30 |
A |
G |
1: 171,235,315 (GRCm39) |
E563G |
probably damaging |
Het |
| Atp6v1e2 |
A |
T |
17: 87,251,822 (GRCm39) |
V192D |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,809,228 (GRCm39) |
V1969I |
probably benign |
Het |
| Bean1 |
T |
C |
8: 104,937,550 (GRCm39) |
L43S |
possibly damaging |
Het |
| Cand1 |
A |
G |
10: 119,048,473 (GRCm39) |
V436A |
probably damaging |
Het |
| Card6 |
T |
C |
15: 5,137,738 (GRCm39) |
I39V |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,805,961 (GRCm39) |
T300A |
probably benign |
Het |
| Ccdc88c |
T |
C |
12: 100,907,466 (GRCm39) |
T962A |
possibly damaging |
Het |
| Chd6 |
G |
T |
2: 160,825,598 (GRCm39) |
L1169I |
probably damaging |
Het |
| Chrna7 |
A |
T |
7: 62,753,583 (GRCm39) |
V312E |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,796,191 (GRCm39) |
N540S |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,149,172 (GRCm39) |
E209G |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,136,932 (GRCm39) |
|
probably null |
Het |
| Fto |
A |
T |
8: 92,393,034 (GRCm39) |
R494* |
probably null |
Het |
| Garre1 |
A |
G |
7: 33,938,526 (GRCm39) |
M791T |
possibly damaging |
Het |
| Gm9966 |
A |
T |
7: 95,608,014 (GRCm39) |
T112S |
unknown |
Het |
| Gtf3c1 |
A |
C |
7: 125,267,211 (GRCm39) |
I940S |
probably damaging |
Het |
| Hecw2 |
C |
A |
1: 53,870,702 (GRCm39) |
Q1426H |
possibly damaging |
Het |
| Ifih1 |
A |
C |
2: 62,437,328 (GRCm39) |
M537R |
probably benign |
Het |
| Kcnmb4 |
A |
G |
10: 116,282,367 (GRCm39) |
|
probably benign |
Het |
| Large2 |
A |
G |
2: 92,199,888 (GRCm39) |
V175A |
possibly damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,464,428 (GRCm39) |
|
probably benign |
Het |
| Muc20 |
A |
T |
16: 32,617,722 (GRCm39) |
F14Y |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,175,195 (GRCm39) |
E1258G |
probably benign |
Het |
| Or8k28 |
A |
T |
2: 86,285,841 (GRCm39) |
M258K |
probably damaging |
Het |
| Parp1 |
A |
T |
1: 180,426,516 (GRCm39) |
|
probably null |
Het |
| Pramel22 |
T |
A |
4: 143,381,889 (GRCm39) |
E269V |
possibly damaging |
Het |
| Prkra |
A |
T |
2: 76,473,653 (GRCm39) |
|
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scd1 |
C |
T |
19: 44,388,746 (GRCm39) |
G235S |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,020,184 (GRCm39) |
H654R |
possibly damaging |
Het |
| Sesn3 |
A |
G |
9: 14,231,633 (GRCm39) |
Y188C |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,585,666 (GRCm39) |
M461V |
probably damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,285,822 (GRCm39) |
I439V |
probably benign |
Het |
| Smc5 |
T |
A |
19: 23,251,076 (GRCm39) |
N36I |
probably benign |
Het |
| Smurf2 |
A |
G |
11: 106,713,504 (GRCm39) |
F745S |
probably damaging |
Het |
| Spata22 |
A |
G |
11: 73,226,857 (GRCm39) |
N65S |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,673,934 (GRCm39) |
T1680A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,891,249 (GRCm39) |
V531M |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,879,433 (GRCm39) |
Y727* |
probably null |
Het |
| Tssk1 |
A |
T |
16: 17,712,758 (GRCm39) |
Y181F |
probably damaging |
Het |
| Ucp3 |
T |
A |
7: 100,129,766 (GRCm39) |
V136E |
probably damaging |
Het |
| Uqcrfs1 |
A |
C |
13: 30,729,097 (GRCm39) |
V45G |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,748,649 (GRCm39) |
I101T |
probably benign |
Het |
| Vmn1r206 |
A |
T |
13: 22,804,334 (GRCm39) |
L291Q |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,210,381 (GRCm39) |
I1813F |
probably damaging |
Het |
| Zbtb3 |
T |
A |
19: 8,780,579 (GRCm39) |
V64E |
probably damaging |
Het |
| Zeb2 |
A |
G |
2: 44,878,886 (GRCm39) |
I1115T |
possibly damaging |
Het |
| Zfp280b |
C |
T |
10: 75,874,945 (GRCm39) |
L275F |
possibly 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 |
|
|
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 |
2014-05-07 |
Incidental Mutation