Incidental Mutation 'R8097:Iars2'
| ID |
630218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iars2
|
| Ensembl Gene |
ENSMUSG00000026618 |
| Gene Name |
isoleucine-tRNA synthetase 2, mitochondrial |
| Synonyms |
2010002H18Rik |
| MMRRC Submission |
067529-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8097 (G1)
|
| Quality Score |
126.008 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
185018839-185061615 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 185061586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027916]
[ENSMUST00000027921]
[ENSMUST00000110965]
[ENSMUST00000110974]
[ENSMUST00000110975]
[ENSMUST00000151769]
[ENSMUST00000210277]
|
| AlphaFold |
Q8BIJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027916
|
| SMART Domains |
Protein: ENSMUSP00000027916
Gene: ENSMUSG00000026617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
8 |
303 |
7.1e-65 |
PFAM |
|
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000110965
|
| SMART Domains |
Protein: ENSMUSP00000106590
Gene: ENSMUSG00000026617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
1 |
248 |
2.8e-50 |
PFAM |
|
| Predicted Effect |
probably benign
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 benign
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 |
probably benign
Transcript: ENSMUST00000151769
|
| SMART Domains |
Protein: ENSMUSP00000117122
Gene: ENSMUSG00000026617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
8 |
83 |
1.7e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210277
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,805,394 (GRCm39) |
M749I |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,743,711 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
G |
A |
4: 129,901,690 (GRCm39) |
C438Y |
probably damaging |
Het |
| Amn1 |
G |
A |
6: 149,070,853 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,887,286 (GRCm39) |
R319W |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,510,115 (GRCm39) |
E830G |
probably benign |
Het |
| Ccdc71 |
T |
C |
9: 108,340,751 (GRCm39) |
V188A |
probably benign |
Het |
| Ceacam11 |
A |
T |
7: 17,709,455 (GRCm39) |
R218* |
probably null |
Het |
| Col18a1 |
A |
C |
10: 76,948,342 (GRCm39) |
L390R |
unknown |
Het |
| Cps1 |
A |
G |
1: 67,267,429 (GRCm39) |
N1399S |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,847,845 (GRCm39) |
E98G |
probably damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,586,836 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
C |
A |
15: 82,274,581 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
G |
A |
4: 96,103,647 (GRCm39) |
T296I |
possibly damaging |
Het |
| Dcc |
C |
T |
18: 71,812,573 (GRCm39) |
G407D |
probably damaging |
Het |
| E330034G19Rik |
T |
C |
14: 24,356,920 (GRCm39) |
L217S |
unknown |
Het |
| Eea1 |
A |
G |
10: 95,862,516 (GRCm39) |
K813E |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Etf1 |
T |
C |
18: 35,064,697 (GRCm39) |
D4G |
probably benign |
Het |
| F830045P16Rik |
T |
C |
2: 129,305,505 (GRCm39) |
T290A |
possibly damaging |
Het |
| Filip1 |
T |
C |
9: 79,725,541 (GRCm39) |
D1026G |
probably benign |
Het |
| Flad1 |
A |
T |
3: 89,316,442 (GRCm39) |
L40H |
probably damaging |
Het |
| Fpr3 |
C |
A |
17: 18,191,054 (GRCm39) |
N108K |
probably damaging |
Het |
| Galntl6 |
A |
G |
8: 58,415,407 (GRCm39) |
|
probably null |
Het |
| Hmgcll1 |
T |
C |
9: 75,922,421 (GRCm39) |
L22P |
probably benign |
Het |
| Ifna15 |
A |
T |
4: 88,475,938 (GRCm39) |
L182Q |
probably benign |
Het |
| Kcna6 |
A |
T |
6: 126,715,575 (GRCm39) |
V438E |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,381,032 (GRCm39) |
D1012V |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,066,660 (GRCm39) |
Q1074* |
probably null |
Het |
| Lhx9 |
T |
C |
1: 138,766,089 (GRCm39) |
Y242C |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,394,925 (GRCm39) |
I167F |
probably benign |
Het |
| Lrrc49 |
T |
A |
9: 60,522,331 (GRCm39) |
T351S |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,775,819 (GRCm39) |
|
probably null |
Het |
| Mlh1 |
C |
A |
9: 111,085,160 (GRCm39) |
|
probably null |
Het |
| Msh4 |
C |
T |
3: 153,583,545 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
G |
7: 49,237,525 (GRCm39) |
D1999G |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,145,945 (GRCm39) |
I1272K |
possibly damaging |
Het |
| Neurl1a |
A |
G |
19: 47,245,958 (GRCm39) |
D530G |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,848,657 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,650 (GRCm39) |
L582Q |
probably damaging |
Het |
| Or1o4 |
A |
T |
17: 37,590,818 (GRCm39) |
Y164* |
probably null |
Het |
| Or4c121 |
A |
T |
2: 89,023,976 (GRCm39) |
I134N |
probably damaging |
Het |
| Or51a39 |
A |
G |
7: 102,363,197 (GRCm39) |
V141A |
possibly damaging |
Het |
| Or8k1 |
A |
T |
2: 86,048,010 (GRCm39) |
F15I |
probably damaging |
Het |
| Pde6c |
G |
T |
19: 38,150,414 (GRCm39) |
E520* |
probably null |
Het |
| Pdzk1 |
C |
T |
3: 96,757,556 (GRCm39) |
T4I |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rap1gap |
G |
T |
4: 137,455,597 (GRCm39) |
V667F |
probably benign |
Het |
| Recql |
A |
T |
6: 142,320,637 (GRCm39) |
I137N |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,960,881 (GRCm39) |
E19G |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,500,615 (GRCm39) |
|
probably null |
Het |
| Six1 |
A |
G |
12: 73,090,524 (GRCm39) |
S214P |
possibly damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,831,734 (GRCm39) |
D1121G |
probably damaging |
Het |
| Slc30a6 |
T |
A |
17: 74,719,693 (GRCm39) |
C218S |
possibly damaging |
Het |
| Spata31e1 |
T |
A |
13: 49,943,676 (GRCm39) |
M1L |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,704,959 (GRCm39) |
D1803G |
possibly damaging |
Het |
| Sult2a3 |
A |
T |
7: 13,816,635 (GRCm39) |
V181E |
possibly damaging |
Het |
| Ubc |
C |
T |
5: 125,466,982 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,596,800 (GRCm39) |
N870S |
probably benign |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,709,492 (GRCm39) |
I1813T |
probably benign |
Het |
| Wdr11 |
C |
T |
7: 129,209,611 (GRCm39) |
P473L |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,333 (GRCm39) |
I114N |
probably benign |
Het |
| Zfp516 |
C |
A |
18: 83,005,295 (GRCm39) |
S733* |
probably null |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2020-06-30 |
Incidental Mutation