Incidental Mutation 'R8713:Iars2'
| ID |
669692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iars2
|
| Ensembl Gene |
ENSMUSG00000026618 |
| Gene Name |
isoleucine-tRNA synthetase 2, mitochondrial |
| Synonyms |
2010002H18Rik |
| MMRRC Submission |
068567-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8713 (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 185023615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 772
(D772G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027921]
[ENSMUST00000069652]
[ENSMUST00000110975]
|
| AlphaFold |
Q8BIJ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027921
AA Change: D772G
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: D772G
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (52/52) |
| 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 |
|---|
| Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
| Adam18 |
T |
A |
8: 25,142,189 (GRCm39) |
M196L |
probably benign |
Het |
| Ankrd10 |
A |
G |
8: 11,678,491 (GRCm39) |
S134P |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,254,825 (GRCm39) |
V4A |
unknown |
Het |
| Cabp4 |
C |
T |
19: 4,186,159 (GRCm39) |
M247I |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,261,404 (GRCm39) |
L11Q |
probably damaging |
Het |
| Cdkl4 |
A |
G |
17: 80,841,292 (GRCm39) |
S288P |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,707,062 (GRCm39) |
I1182V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,979,028 (GRCm39) |
D1788G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,352,701 (GRCm39) |
D193G |
probably damaging |
Het |
| Dym |
T |
G |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
| Dync2h1 |
G |
A |
9: 7,141,008 (GRCm39) |
Q1340* |
probably null |
Het |
| Elmo1 |
T |
C |
13: 20,458,791 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
C |
9: 109,384,667 (GRCm39) |
F378V |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,811,453 (GRCm39) |
G2591R |
probably damaging |
Het |
| Gps2 |
C |
A |
11: 69,806,180 (GRCm39) |
D148E |
probably benign |
Het |
| Ifit1 |
T |
A |
19: 34,625,038 (GRCm39) |
L58Q |
probably benign |
Het |
| Kctd4 |
A |
T |
14: 76,200,366 (GRCm39) |
Q112H |
probably benign |
Het |
| Letm1 |
A |
G |
5: 33,919,849 (GRCm39) |
L230P |
probably damaging |
Het |
| Lrch4 |
G |
T |
5: 137,638,125 (GRCm39) |
E136* |
probably null |
Het |
| Macc1 |
T |
C |
12: 119,407,261 (GRCm39) |
|
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,034,494 (GRCm39) |
L79P |
probably benign |
Het |
| Map2 |
T |
A |
1: 66,453,781 (GRCm39) |
N890K |
probably damaging |
Het |
| Mctp1 |
G |
A |
13: 76,789,922 (GRCm39) |
S270N |
probably benign |
Het |
| Mrpl44 |
C |
T |
1: 79,755,708 (GRCm39) |
R105C |
probably damaging |
Het |
| Mtg1 |
T |
A |
7: 139,717,688 (GRCm39) |
|
probably null |
Het |
| Mtg1 |
T |
C |
7: 139,720,136 (GRCm39) |
F68L |
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,122,047 (GRCm39) |
S286P |
possibly damaging |
Het |
| Nutm1 |
A |
G |
2: 112,081,667 (GRCm39) |
V332A |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 59,026,792 (GRCm39) |
Q137L |
probably benign |
Het |
| Pcnx2 |
T |
G |
8: 126,545,525 (GRCm39) |
E1162A |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,900,818 (GRCm39) |
D117G |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,513,345 (GRCm39) |
C215R |
probably benign |
Het |
| Rrm1 |
T |
G |
7: 102,109,558 (GRCm39) |
Y461D |
probably damaging |
Het |
| Sbk3 |
C |
T |
7: 4,972,991 (GRCm39) |
V60I |
possibly damaging |
Het |
| Scube1 |
G |
T |
15: 83,494,471 (GRCm39) |
A852E |
possibly damaging |
Het |
| Sec24d |
T |
A |
3: 123,137,541 (GRCm39) |
I561N |
probably damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,218,901 (GRCm39) |
*501Q |
probably null |
Het |
| Slc6a19 |
C |
A |
13: 73,848,740 (GRCm39) |
V5L |
probably benign |
Het |
| Spryd3 |
A |
G |
15: 102,041,920 (GRCm39) |
I34T |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,266,040 (GRCm39) |
L2191P |
probably damaging |
Het |
| Tbrg1 |
A |
G |
9: 37,563,955 (GRCm39) |
C227R |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,935,910 (GRCm39) |
S1713P |
probably benign |
Het |
| Thap12 |
C |
T |
7: 98,356,283 (GRCm39) |
L57F |
probably benign |
Het |
| Top1 |
G |
A |
2: 160,559,360 (GRCm39) |
V628I |
probably damaging |
Het |
| Trim67 |
A |
G |
8: 125,547,074 (GRCm39) |
M495V |
probably null |
Het |
| Trio |
A |
C |
15: 27,744,037 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
A |
T |
6: 123,679,991 (GRCm39) |
Y71F |
|
Het |
| Ywhah |
A |
G |
5: 33,184,535 (GRCm39) |
N246S |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,797,794 (GRCm39) |
I125T |
probably benign |
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 |
|
|
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 |
|
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'- ATAATTCTGCCCAGCTGCTCAC -3'
(R):5'- GCCTCAGAGATAACTGCTCC -3'
Sequencing Primer
(F):5'- TCACCGTGGACACTGCAGAC -3'
(R):5'- TATGCTACCCAGGACTTATGCGAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation