Incidental Mutation 'R0184:Iars1'
ID |
23991 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iars1
|
Ensembl Gene |
ENSMUSG00000037851 |
Gene Name |
isoleucyl-tRNA synthetase 1 |
Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
MMRRC Submission |
038449-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0184 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
13 |
Chromosomal Location |
49682100-49734267 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 49722212 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 792
(S792A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047363]
[ENSMUST00000164260]
[ENSMUST00000165316]
|
AlphaFold |
Q8BU30 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047363
AA Change: S792A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000048096 Gene: ENSMUSG00000037851 AA Change: S792A
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1
|
17 |
639 |
9.2e-242 |
PFAM |
Pfam:tRNA-synt_1g
|
46 |
197 |
3.7e-6 |
PFAM |
Pfam:Anticodon_1
|
693 |
852 |
1.1e-23 |
PFAM |
low complexity region
|
1159 |
1167 |
N/A |
INTRINSIC |
low complexity region
|
1169 |
1180 |
N/A |
INTRINSIC |
low complexity region
|
1220 |
1229 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164260
AA Change: S792A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000126806 Gene: ENSMUSG00000037851 AA Change: S792A
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1
|
17 |
639 |
5.5e-238 |
PFAM |
Pfam:tRNA-synt_1g
|
46 |
205 |
5.2e-8 |
PFAM |
Pfam:tRNA-synt_1g
|
521 |
659 |
2.1e-5 |
PFAM |
Pfam:Anticodon_1
|
693 |
852 |
7.1e-24 |
PFAM |
low complexity region
|
1159 |
1167 |
N/A |
INTRINSIC |
low complexity region
|
1169 |
1180 |
N/A |
INTRINSIC |
low complexity region
|
1220 |
1229 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165270
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165316
AA Change: S792A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000132082 Gene: ENSMUSG00000037851 AA Change: S792A
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1
|
17 |
639 |
5.5e-238 |
PFAM |
Pfam:tRNA-synt_1g
|
46 |
205 |
5.2e-8 |
PFAM |
Pfam:tRNA-synt_1g
|
521 |
659 |
2.1e-5 |
PFAM |
Pfam:Anticodon_1
|
693 |
852 |
7.1e-24 |
PFAM |
low complexity region
|
1159 |
1167 |
N/A |
INTRINSIC |
low complexity region
|
1169 |
1180 |
N/A |
INTRINSIC |
low complexity region
|
1220 |
1229 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165656
|
Meta Mutation Damage Score |
0.0887  |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.9%
|
Validation Efficiency |
66% (50/76) |
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. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
A |
3: 124,419,250 (GRCm38) |
V131F |
probably damaging |
Het |
Adam28 |
T |
C |
14: 68,637,373 (GRCm38) |
D285G |
probably benign |
Het |
Akr1c13 |
A |
G |
13: 4,194,056 (GRCm38) |
E36G |
probably damaging |
Het |
Antxr2 |
A |
G |
5: 97,980,030 (GRCm38) |
L214S |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 38,617,673 (GRCm38) |
D46E |
unknown |
Het |
Armc9 |
T |
C |
1: 86,198,370 (GRCm38) |
L61P |
probably damaging |
Het |
Bicc1 |
C |
A |
10: 71,079,215 (GRCm38) |
R73L |
probably benign |
Het |
Calm2 |
T |
C |
17: 87,435,841 (GRCm38) |
N43S |
probably benign |
Het |
Cct7 |
A |
G |
6: 85,461,554 (GRCm38) |
D105G |
probably null |
Het |
Cdk18 |
T |
C |
1: 132,118,538 (GRCm38) |
N215D |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,103,395 (GRCm38) |
T205A |
probably benign |
Het |
Cfap57 |
A |
T |
4: 118,599,012 (GRCm38) |
I495N |
probably damaging |
Het |
Cyp2b9 |
T |
A |
7: 26,187,007 (GRCm38) |
C152* |
probably null |
Het |
Dab2ip |
G |
A |
2: 35,718,791 (GRCm38) |
R579H |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,683,683 (GRCm38) |
V905A |
probably benign |
Het |
Eif4h |
C |
A |
5: 134,625,375 (GRCm38) |
D134Y |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,299,216 (GRCm38) |
S372T |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,296,288 (GRCm38) |
H1244L |
probably damaging |
Het |
Fbxo11 |
T |
A |
17: 88,008,673 (GRCm38) |
N443I |
probably benign |
Het |
Git2 |
G |
A |
5: 114,739,037 (GRCm38) |
T128M |
possibly damaging |
Het |
Gm10985 |
T |
A |
3: 53,845,258 (GRCm38) |
Y21N |
probably damaging |
Het |
Gm12790 |
A |
T |
4: 101,967,614 (GRCm38) |
Y152* |
probably null |
Het |
Heatr5a |
T |
C |
12: 51,909,969 (GRCm38) |
D1115G |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,718,931 (GRCm38) |
N726S |
possibly damaging |
Het |
Hrg |
T |
C |
16: 22,953,771 (GRCm38) |
|
probably null |
Het |
Igf1r |
A |
G |
7: 68,226,193 (GRCm38) |
N1301S |
possibly damaging |
Het |
Il22 |
A |
T |
10: 118,205,606 (GRCm38) |
I75F |
probably damaging |
Het |
Ilkap |
T |
C |
1: 91,376,305 (GRCm38) |
|
probably benign |
Het |
Ints13 |
A |
T |
6: 146,555,044 (GRCm38) |
Y435N |
probably benign |
Het |
Ints8 |
A |
C |
4: 11,218,637 (GRCm38) |
S797A |
probably benign |
Het |
Itgad |
T |
A |
7: 128,189,231 (GRCm38) |
D405E |
probably benign |
Het |
Itgam |
A |
T |
7: 128,086,058 (GRCm38) |
I448F |
probably damaging |
Het |
Klk1 |
C |
T |
7: 44,228,749 (GRCm38) |
T41I |
possibly damaging |
Het |
Mcrip1 |
T |
C |
11: 120,544,884 (GRCm38) |
M1V |
probably null |
Het |
Mdga1 |
A |
G |
17: 29,852,442 (GRCm38) |
Y128H |
probably damaging |
Het |
Mtor |
G |
T |
4: 148,464,971 (GRCm38) |
R604L |
probably benign |
Het |
Or52p1 |
T |
C |
7: 104,618,240 (GRCm38) |
V187A |
probably damaging |
Het |
Or5d41 |
A |
T |
2: 88,224,780 (GRCm38) |
L84* |
probably null |
Het |
Pcdhb7 |
T |
A |
18: 37,343,390 (GRCm38) |
D526E |
probably benign |
Het |
Pip4k2a |
T |
C |
2: 18,889,128 (GRCm38) |
D139G |
probably damaging |
Het |
Pkp3 |
A |
C |
7: 141,088,367 (GRCm38) |
N536T |
probably benign |
Het |
Pla2g4c |
T |
A |
7: 13,356,220 (GRCm38) |
S524T |
probably benign |
Het |
Pno1 |
T |
C |
11: 17,211,127 (GRCm38) |
E69G |
probably benign |
Het |
Pold1 |
C |
T |
7: 44,541,715 (GRCm38) |
V231M |
probably benign |
Het |
Poli |
A |
G |
18: 70,522,731 (GRCm38) |
S248P |
probably damaging |
Het |
Ppox |
C |
T |
1: 171,279,552 (GRCm38) |
S138N |
probably damaging |
Het |
Psg20 |
T |
C |
7: 18,685,976 (GRCm38) |
E6G |
probably null |
Het |
Rbmx |
C |
T |
X: 57,391,566 (GRCm38) |
|
probably null |
Het |
Rln1 |
T |
A |
19: 29,331,936 (GRCm38) |
K148* |
probably null |
Het |
Rnf213 |
C |
T |
11: 119,414,521 (GRCm38) |
T526I |
probably damaging |
Het |
Rps6kc1 |
A |
T |
1: 190,799,093 (GRCm38) |
V904E |
probably null |
Het |
Sf3b2 |
T |
A |
19: 5,283,672 (GRCm38) |
I633F |
probably damaging |
Het |
Sfswap |
T |
A |
5: 129,507,189 (GRCm38) |
I189N |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,692,249 (GRCm38) |
Y973* |
probably null |
Het |
Spink5 |
G |
A |
18: 44,003,198 (GRCm38) |
D559N |
probably benign |
Het |
Spty2d1 |
C |
T |
7: 46,997,574 (GRCm38) |
V536I |
possibly damaging |
Het |
Tbx3 |
T |
C |
5: 119,675,562 (GRCm38) |
I221T |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,852,300 (GRCm38) |
D1650V |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,430,964 (GRCm38) |
K45R |
probably benign |
Het |
Tirap |
A |
G |
9: 35,189,194 (GRCm38) |
S65P |
probably benign |
Het |
Trim25 |
C |
T |
11: 88,999,640 (GRCm38) |
P51L |
probably damaging |
Het |
Trim61 |
T |
C |
8: 65,014,417 (GRCm38) |
N64S |
probably benign |
Het |
Twf1 |
T |
A |
15: 94,581,067 (GRCm38) |
|
probably null |
Het |
Ubr4 |
A |
C |
4: 139,445,262 (GRCm38) |
T1692P |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,562,581 (GRCm38) |
M86T |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,667,618 (GRCm38) |
D1762G |
probably benign |
Het |
V1rd19 |
T |
A |
7: 24,003,207 (GRCm38) |
F33I |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 10,159,338 (GRCm38) |
S625G |
probably damaging |
Het |
Vmn2r90 |
G |
A |
17: 17,726,877 (GRCm38) |
W472* |
probably null |
Het |
Vrk2 |
C |
A |
11: 26,550,046 (GRCm38) |
A56S |
probably damaging |
Het |
Yeats2 |
C |
T |
16: 20,203,685 (GRCm38) |
P620S |
possibly damaging |
Het |
Zbtb21 |
C |
T |
16: 97,950,513 (GRCm38) |
D171N |
probably damaging |
Het |
Zeb1 |
A |
T |
18: 5,766,808 (GRCm38) |
I440F |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,819,563 (GRCm38) |
I253T |
probably damaging |
Het |
|
Other mutations in Iars1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00697:Iars1
|
APN |
13 |
49,709,728 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00764:Iars1
|
APN |
13 |
49,711,827 (GRCm38) |
missense |
probably benign |
0.34 |
IGL01153:Iars1
|
APN |
13 |
49,711,805 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01481:Iars1
|
APN |
13 |
49,728,698 (GRCm38) |
missense |
probably benign |
0.00 |
IGL01596:Iars1
|
APN |
13 |
49,703,176 (GRCm38) |
missense |
probably benign |
|
IGL01682:Iars1
|
APN |
13 |
49,709,658 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01885:Iars1
|
APN |
13 |
49,691,499 (GRCm38) |
missense |
probably benign |
0.25 |
IGL01907:Iars1
|
APN |
13 |
49,709,655 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02023:Iars1
|
APN |
13 |
49,688,249 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02121:Iars1
|
APN |
13 |
49,724,696 (GRCm38) |
missense |
probably benign |
0.00 |
IGL02365:Iars1
|
APN |
13 |
49,691,499 (GRCm38) |
missense |
probably benign |
0.25 |
IGL02704:Iars1
|
APN |
13 |
49,721,100 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02838:Iars1
|
APN |
13 |
49,690,489 (GRCm38) |
missense |
possibly damaging |
0.87 |
IGL02975:Iars1
|
APN |
13 |
49,704,849 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02982:Iars1
|
APN |
13 |
49,709,709 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03034:Iars1
|
APN |
13 |
49,690,489 (GRCm38) |
missense |
possibly damaging |
0.87 |
IGL03060:Iars1
|
APN |
13 |
49,690,447 (GRCm38) |
critical splice acceptor site |
probably null |
|
IGL03156:Iars1
|
APN |
13 |
49,703,179 (GRCm38) |
missense |
possibly damaging |
0.87 |
IGL03206:Iars1
|
APN |
13 |
49,693,070 (GRCm38) |
missense |
possibly damaging |
0.81 |
IGL03343:Iars1
|
APN |
13 |
49,724,747 (GRCm38) |
missense |
probably benign |
0.12 |
gannett_peak
|
UTSW |
13 |
49,708,421 (GRCm38) |
missense |
probably damaging |
1.00 |
missouri
|
UTSW |
13 |
49,688,276 (GRCm38) |
missense |
possibly damaging |
0.82 |
spacex
|
UTSW |
13 |
49,723,002 (GRCm38) |
missense |
possibly damaging |
0.85 |
wind_river
|
UTSW |
13 |
49,701,895 (GRCm38) |
missense |
probably damaging |
1.00 |
R0054:Iars1
|
UTSW |
13 |
49,693,135 (GRCm38) |
missense |
probably damaging |
1.00 |
R0054:Iars1
|
UTSW |
13 |
49,693,135 (GRCm38) |
missense |
probably damaging |
1.00 |
R0200:Iars1
|
UTSW |
13 |
49,726,202 (GRCm38) |
missense |
possibly damaging |
0.62 |
R0356:Iars1
|
UTSW |
13 |
49,703,233 (GRCm38) |
missense |
probably benign |
0.03 |
R0383:Iars1
|
UTSW |
13 |
49,732,342 (GRCm38) |
missense |
probably damaging |
0.99 |
R0657:Iars1
|
UTSW |
13 |
49,702,519 (GRCm38) |
missense |
probably damaging |
1.00 |
R1005:Iars1
|
UTSW |
13 |
49,687,445 (GRCm38) |
missense |
possibly damaging |
0.94 |
R1427:Iars1
|
UTSW |
13 |
49,704,269 (GRCm38) |
critical splice acceptor site |
probably null |
|
R1449:Iars1
|
UTSW |
13 |
49,733,710 (GRCm38) |
missense |
probably damaging |
0.99 |
R1647:Iars1
|
UTSW |
13 |
49,723,002 (GRCm38) |
missense |
possibly damaging |
0.85 |
R1648:Iars1
|
UTSW |
13 |
49,723,002 (GRCm38) |
missense |
possibly damaging |
0.85 |
R1664:Iars1
|
UTSW |
13 |
49,711,775 (GRCm38) |
missense |
probably damaging |
0.98 |
R1763:Iars1
|
UTSW |
13 |
49,723,077 (GRCm38) |
critical splice donor site |
probably null |
|
R2192:Iars1
|
UTSW |
13 |
49,688,129 (GRCm38) |
splice site |
probably null |
|
R2203:Iars1
|
UTSW |
13 |
49,722,675 (GRCm38) |
missense |
probably benign |
0.00 |
R2357:Iars1
|
UTSW |
13 |
49,688,203 (GRCm38) |
missense |
probably damaging |
1.00 |
R3724:Iars1
|
UTSW |
13 |
49,687,384 (GRCm38) |
critical splice acceptor site |
probably null |
|
R4785:Iars1
|
UTSW |
13 |
49,724,663 (GRCm38) |
missense |
probably damaging |
0.99 |
R4934:Iars1
|
UTSW |
13 |
49,717,984 (GRCm38) |
missense |
probably benign |
0.17 |
R4999:Iars1
|
UTSW |
13 |
49,709,661 (GRCm38) |
missense |
probably damaging |
1.00 |
R5048:Iars1
|
UTSW |
13 |
49,688,237 (GRCm38) |
missense |
probably damaging |
0.99 |
R5268:Iars1
|
UTSW |
13 |
49,690,491 (GRCm38) |
missense |
probably damaging |
1.00 |
R5394:Iars1
|
UTSW |
13 |
49,722,165 (GRCm38) |
missense |
probably damaging |
1.00 |
R5486:Iars1
|
UTSW |
13 |
49,709,573 (GRCm38) |
splice site |
probably null |
|
R5960:Iars1
|
UTSW |
13 |
49,724,637 (GRCm38) |
missense |
possibly damaging |
0.68 |
R5972:Iars1
|
UTSW |
13 |
49,709,632 (GRCm38) |
missense |
possibly damaging |
0.91 |
R5978:Iars1
|
UTSW |
13 |
49,722,993 (GRCm38) |
missense |
probably damaging |
0.99 |
R6031:Iars1
|
UTSW |
13 |
49,705,831 (GRCm38) |
missense |
probably damaging |
0.98 |
R6031:Iars1
|
UTSW |
13 |
49,705,831 (GRCm38) |
missense |
probably damaging |
0.98 |
R6092:Iars1
|
UTSW |
13 |
49,708,421 (GRCm38) |
missense |
probably damaging |
1.00 |
R6167:Iars1
|
UTSW |
13 |
49,722,714 (GRCm38) |
missense |
probably damaging |
1.00 |
R6313:Iars1
|
UTSW |
13 |
49,708,445 (GRCm38) |
missense |
probably damaging |
0.99 |
R6358:Iars1
|
UTSW |
13 |
49,727,143 (GRCm38) |
missense |
possibly damaging |
0.67 |
R6385:Iars1
|
UTSW |
13 |
49,701,895 (GRCm38) |
missense |
probably damaging |
1.00 |
R6403:Iars1
|
UTSW |
13 |
49,687,495 (GRCm38) |
missense |
probably damaging |
1.00 |
R6575:Iars1
|
UTSW |
13 |
49,725,269 (GRCm38) |
missense |
probably damaging |
1.00 |
R6675:Iars1
|
UTSW |
13 |
49,719,578 (GRCm38) |
missense |
probably damaging |
0.99 |
R6957:Iars1
|
UTSW |
13 |
49,722,161 (GRCm38) |
missense |
probably damaging |
1.00 |
R7207:Iars1
|
UTSW |
13 |
49,688,315 (GRCm38) |
critical splice donor site |
probably null |
|
R7254:Iars1
|
UTSW |
13 |
49,723,078 (GRCm38) |
critical splice donor site |
probably null |
|
R7354:Iars1
|
UTSW |
13 |
49,704,320 (GRCm38) |
missense |
probably benign |
|
R7397:Iars1
|
UTSW |
13 |
49,728,677 (GRCm38) |
missense |
probably benign |
0.00 |
R7696:Iars1
|
UTSW |
13 |
49,706,738 (GRCm38) |
missense |
probably damaging |
1.00 |
R7799:Iars1
|
UTSW |
13 |
49,723,018 (GRCm38) |
missense |
probably damaging |
1.00 |
R7828:Iars1
|
UTSW |
13 |
49,725,272 (GRCm38) |
missense |
probably benign |
|
R8679:Iars1
|
UTSW |
13 |
49,703,199 (GRCm38) |
unclassified |
probably benign |
|
R8768:Iars1
|
UTSW |
13 |
49,724,626 (GRCm38) |
missense |
probably damaging |
0.99 |
R8797:Iars1
|
UTSW |
13 |
49,688,262 (GRCm38) |
missense |
probably benign |
0.12 |
R8906:Iars1
|
UTSW |
13 |
49,728,701 (GRCm38) |
missense |
probably benign |
|
R8990:Iars1
|
UTSW |
13 |
49,688,276 (GRCm38) |
missense |
possibly damaging |
0.82 |
R9134:Iars1
|
UTSW |
13 |
49,701,847 (GRCm38) |
missense |
probably benign |
0.00 |
R9137:Iars1
|
UTSW |
13 |
49,701,874 (GRCm38) |
missense |
probably benign |
|
R9394:Iars1
|
UTSW |
13 |
49,730,060 (GRCm38) |
missense |
probably benign |
|
R9668:Iars1
|
UTSW |
13 |
49,687,409 (GRCm38) |
missense |
probably damaging |
0.98 |
R9741:Iars1
|
UTSW |
13 |
49,691,502 (GRCm38) |
missense |
probably damaging |
0.99 |
Z1088:Iars1
|
UTSW |
13 |
49,721,088 (GRCm38) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTATGCCTGTCTGTGTATTGC -3'
(R):5'- AAGGAGGATGCTATACCCCTGCTAC -3'
Sequencing Primer
(F):5'- GCTATTCTCCTCTCTAAAGTGACTGG -3'
(R):5'- TGCAGCCTGAGGAGTAGC -3'
|
Posted On |
2013-04-16 |