Incidental Mutation 'IGL03002:Iars2'
ID |
407410 |
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 # |
IGL03002
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
185018839-185061615 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 185055013 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027921]
[ENSMUST00000110974]
[ENSMUST00000110975]
|
AlphaFold |
Q8BIJ6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027921
|
SMART Domains |
Protein: ENSMUSP00000027921 Gene: ENSMUSG00000026618
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 null
Transcript: ENSMUST00000110974
|
SMART Domains |
Protein: ENSMUSP00000106601 Gene: ENSMUSG00000026618
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 null
Transcript: ENSMUST00000110975
|
SMART Domains |
Protein: ENSMUSP00000106603 Gene: ENSMUSG00000026618
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: ENSMUST00000153211
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
T |
C |
1: 66,876,128 (GRCm39) |
I398V |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,026,437 (GRCm39) |
E187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,279 (GRCm39) |
N189K |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,104,520 (GRCm39) |
V164A |
possibly damaging |
Het |
Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
Med12 |
A |
G |
X: 100,339,461 (GRCm39) |
T2004A |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
Mthfsd |
C |
T |
8: 121,835,018 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
Nfatc2 |
C |
T |
2: 168,376,904 (GRCm39) |
V329M |
probably damaging |
Het |
Ngef |
A |
T |
1: 87,437,114 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
Socs1 |
T |
C |
16: 10,602,404 (GRCm39) |
N111S |
probably damaging |
Het |
Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
A |
G |
6: 72,593,055 (GRCm39) |
S142P |
possibly damaging |
Het |
Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
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 |
|
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 |
2016-08-02 |