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 |
49835606-49887743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 49875688 bp (GRCm39)
|
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: 124,212,899 (GRCm39) |
V131F |
probably damaging |
Het |
Adam28 |
T |
C |
14: 68,874,822 (GRCm39) |
D285G |
probably benign |
Het |
Akr1c13 |
A |
G |
13: 4,244,055 (GRCm39) |
E36G |
probably damaging |
Het |
Antxr2 |
A |
G |
5: 98,127,889 (GRCm39) |
L214S |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 38,750,726 (GRCm39) |
D46E |
unknown |
Het |
Armc9 |
T |
C |
1: 86,126,092 (GRCm39) |
L61P |
probably damaging |
Het |
Bicc1 |
C |
A |
10: 70,915,045 (GRCm39) |
R73L |
probably benign |
Het |
Calm2 |
T |
C |
17: 87,743,269 (GRCm39) |
N43S |
probably benign |
Het |
Cct7 |
A |
G |
6: 85,438,536 (GRCm39) |
D105G |
probably null |
Het |
Cdk18 |
T |
C |
1: 132,046,276 (GRCm39) |
N215D |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,103,396 (GRCm39) |
T205A |
probably benign |
Het |
Cfap57 |
A |
T |
4: 118,456,209 (GRCm39) |
I495N |
probably damaging |
Het |
Cyp2b9 |
T |
A |
7: 25,886,432 (GRCm39) |
C152* |
probably null |
Het |
Dab2ip |
G |
A |
2: 35,608,803 (GRCm39) |
R579H |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,902,657 (GRCm39) |
V905A |
probably benign |
Het |
Eif4h |
C |
A |
5: 134,654,229 (GRCm39) |
D134Y |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,207,651 (GRCm39) |
S372T |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,187,114 (GRCm39) |
H1244L |
probably damaging |
Het |
Fbxo11 |
T |
A |
17: 88,316,101 (GRCm39) |
N443I |
probably benign |
Het |
Git2 |
G |
A |
5: 114,877,098 (GRCm39) |
T128M |
possibly damaging |
Het |
Gm10985 |
T |
A |
3: 53,752,679 (GRCm39) |
Y21N |
probably damaging |
Het |
Gm12790 |
A |
T |
4: 101,824,811 (GRCm39) |
Y152* |
probably null |
Het |
Heatr5a |
T |
C |
12: 51,956,752 (GRCm39) |
D1115G |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,695,866 (GRCm39) |
N726S |
possibly damaging |
Het |
Hrg |
T |
C |
16: 22,772,521 (GRCm39) |
|
probably null |
Het |
Igf1r |
A |
G |
7: 67,875,941 (GRCm39) |
N1301S |
possibly damaging |
Het |
Il22 |
A |
T |
10: 118,041,511 (GRCm39) |
I75F |
probably damaging |
Het |
Ilkap |
T |
C |
1: 91,304,027 (GRCm39) |
|
probably benign |
Het |
Ints13 |
A |
T |
6: 146,456,542 (GRCm39) |
Y435N |
probably benign |
Het |
Ints8 |
A |
C |
4: 11,218,637 (GRCm39) |
S797A |
probably benign |
Het |
Itgad |
T |
A |
7: 127,788,403 (GRCm39) |
D405E |
probably benign |
Het |
Itgam |
A |
T |
7: 127,685,230 (GRCm39) |
I448F |
probably damaging |
Het |
Klk1 |
C |
T |
7: 43,878,173 (GRCm39) |
T41I |
possibly damaging |
Het |
Mcrip1 |
T |
C |
11: 120,435,710 (GRCm39) |
M1V |
probably null |
Het |
Mdga1 |
A |
G |
17: 30,071,416 (GRCm39) |
Y128H |
probably damaging |
Het |
Mtor |
G |
T |
4: 148,549,428 (GRCm39) |
R604L |
probably benign |
Het |
Or52p1 |
T |
C |
7: 104,267,447 (GRCm39) |
V187A |
probably damaging |
Het |
Or5d41 |
A |
T |
2: 88,055,124 (GRCm39) |
L84* |
probably null |
Het |
Pcdhb7 |
T |
A |
18: 37,476,443 (GRCm39) |
D526E |
probably benign |
Het |
Pip4k2a |
T |
C |
2: 18,893,939 (GRCm39) |
D139G |
probably damaging |
Het |
Pkp3 |
A |
C |
7: 140,668,280 (GRCm39) |
N536T |
probably benign |
Het |
Pla2g4c |
T |
A |
7: 13,090,145 (GRCm39) |
S524T |
probably benign |
Het |
Pno1 |
T |
C |
11: 17,161,127 (GRCm39) |
E69G |
probably benign |
Het |
Pold1 |
C |
T |
7: 44,191,139 (GRCm39) |
V231M |
probably benign |
Het |
Poli |
A |
G |
18: 70,655,802 (GRCm39) |
S248P |
probably damaging |
Het |
Ppox |
C |
T |
1: 171,107,126 (GRCm39) |
S138N |
probably damaging |
Het |
Psg20 |
T |
C |
7: 18,419,901 (GRCm39) |
E6G |
probably null |
Het |
Rbmx |
C |
T |
X: 56,436,926 (GRCm39) |
|
probably null |
Het |
Rln1 |
T |
A |
19: 29,309,336 (GRCm39) |
K148* |
probably null |
Het |
Rnf213 |
C |
T |
11: 119,305,347 (GRCm39) |
T526I |
probably damaging |
Het |
Rps6kc1 |
A |
T |
1: 190,531,290 (GRCm39) |
V904E |
probably null |
Het |
Sf3b2 |
T |
A |
19: 5,333,700 (GRCm39) |
I633F |
probably damaging |
Het |
Sfswap |
T |
A |
5: 129,584,253 (GRCm39) |
I189N |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,669,649 (GRCm39) |
Y973* |
probably null |
Het |
Spink5 |
G |
A |
18: 44,136,265 (GRCm39) |
D559N |
probably benign |
Het |
Spty2d1 |
C |
T |
7: 46,647,322 (GRCm39) |
V536I |
possibly damaging |
Het |
Tbx3 |
T |
C |
5: 119,813,627 (GRCm39) |
I221T |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,736,501 (GRCm39) |
D1650V |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,358,701 (GRCm39) |
K45R |
probably benign |
Het |
Tirap |
A |
G |
9: 35,100,490 (GRCm39) |
S65P |
probably benign |
Het |
Trim25 |
C |
T |
11: 88,890,466 (GRCm39) |
P51L |
probably damaging |
Het |
Trim61 |
T |
C |
8: 65,467,069 (GRCm39) |
N64S |
probably benign |
Het |
Twf1 |
T |
A |
15: 94,478,948 (GRCm39) |
|
probably null |
Het |
Ubr4 |
A |
C |
4: 139,172,573 (GRCm39) |
T1692P |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,469,863 (GRCm39) |
M86T |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,543,362 (GRCm39) |
D1762G |
probably benign |
Het |
V1rd19 |
T |
A |
7: 23,702,632 (GRCm39) |
F33I |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,893,265 (GRCm39) |
S625G |
probably damaging |
Het |
Vmn2r90 |
G |
A |
17: 17,947,139 (GRCm39) |
W472* |
probably null |
Het |
Vrk2 |
C |
A |
11: 26,500,046 (GRCm39) |
A56S |
probably damaging |
Het |
Yeats2 |
C |
T |
16: 20,022,435 (GRCm39) |
P620S |
possibly damaging |
Het |
Zbtb21 |
C |
T |
16: 97,751,713 (GRCm39) |
D171N |
probably damaging |
Het |
Zeb1 |
A |
T |
18: 5,766,808 (GRCm39) |
I440F |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,819,563 (GRCm39) |
I253T |
probably damaging |
Het |
|
Other mutations in Iars1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00697:Iars1
|
APN |
13 |
49,863,204 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00764:Iars1
|
APN |
13 |
49,865,303 (GRCm39) |
missense |
probably benign |
0.34 |
IGL01153:Iars1
|
APN |
13 |
49,865,281 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01481:Iars1
|
APN |
13 |
49,882,174 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01596:Iars1
|
APN |
13 |
49,856,652 (GRCm39) |
missense |
probably benign |
|
IGL01682:Iars1
|
APN |
13 |
49,863,134 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01885:Iars1
|
APN |
13 |
49,844,975 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01907:Iars1
|
APN |
13 |
49,863,131 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02023:Iars1
|
APN |
13 |
49,841,725 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02121:Iars1
|
APN |
13 |
49,878,172 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02365:Iars1
|
APN |
13 |
49,844,975 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02704:Iars1
|
APN |
13 |
49,874,576 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02838:Iars1
|
APN |
13 |
49,843,965 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02975:Iars1
|
APN |
13 |
49,858,325 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02982:Iars1
|
APN |
13 |
49,863,185 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03034:Iars1
|
APN |
13 |
49,843,965 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03060:Iars1
|
APN |
13 |
49,843,923 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03156:Iars1
|
APN |
13 |
49,856,655 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03206:Iars1
|
APN |
13 |
49,846,546 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03343:Iars1
|
APN |
13 |
49,878,223 (GRCm39) |
missense |
probably benign |
0.12 |
gannett_peak
|
UTSW |
13 |
49,861,897 (GRCm39) |
missense |
probably damaging |
1.00 |
missouri
|
UTSW |
13 |
49,841,752 (GRCm39) |
missense |
possibly damaging |
0.82 |
spacex
|
UTSW |
13 |
49,876,478 (GRCm39) |
missense |
possibly damaging |
0.85 |
wind_river
|
UTSW |
13 |
49,855,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Iars1
|
UTSW |
13 |
49,846,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Iars1
|
UTSW |
13 |
49,846,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Iars1
|
UTSW |
13 |
49,879,678 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0356:Iars1
|
UTSW |
13 |
49,856,709 (GRCm39) |
missense |
probably benign |
0.03 |
R0383:Iars1
|
UTSW |
13 |
49,885,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R0657:Iars1
|
UTSW |
13 |
49,855,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R1005:Iars1
|
UTSW |
13 |
49,840,921 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1427:Iars1
|
UTSW |
13 |
49,857,745 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1449:Iars1
|
UTSW |
13 |
49,887,186 (GRCm39) |
missense |
probably damaging |
0.99 |
R1647:Iars1
|
UTSW |
13 |
49,876,478 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1648:Iars1
|
UTSW |
13 |
49,876,478 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1664:Iars1
|
UTSW |
13 |
49,865,251 (GRCm39) |
missense |
probably damaging |
0.98 |
R1763:Iars1
|
UTSW |
13 |
49,876,553 (GRCm39) |
critical splice donor site |
probably null |
|
R2192:Iars1
|
UTSW |
13 |
49,841,605 (GRCm39) |
splice site |
probably null |
|
R2203:Iars1
|
UTSW |
13 |
49,876,151 (GRCm39) |
missense |
probably benign |
0.00 |
R2357:Iars1
|
UTSW |
13 |
49,841,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R3724:Iars1
|
UTSW |
13 |
49,840,860 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4785:Iars1
|
UTSW |
13 |
49,878,139 (GRCm39) |
missense |
probably damaging |
0.99 |
R4934:Iars1
|
UTSW |
13 |
49,871,460 (GRCm39) |
missense |
probably benign |
0.17 |
R4999:Iars1
|
UTSW |
13 |
49,863,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R5048:Iars1
|
UTSW |
13 |
49,841,713 (GRCm39) |
missense |
probably damaging |
0.99 |
R5268:Iars1
|
UTSW |
13 |
49,843,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R5394:Iars1
|
UTSW |
13 |
49,875,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R5486:Iars1
|
UTSW |
13 |
49,863,049 (GRCm39) |
splice site |
probably null |
|
R5960:Iars1
|
UTSW |
13 |
49,878,113 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5972:Iars1
|
UTSW |
13 |
49,863,108 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5978:Iars1
|
UTSW |
13 |
49,876,469 (GRCm39) |
missense |
probably damaging |
0.99 |
R6031:Iars1
|
UTSW |
13 |
49,859,307 (GRCm39) |
missense |
probably damaging |
0.98 |
R6031:Iars1
|
UTSW |
13 |
49,859,307 (GRCm39) |
missense |
probably damaging |
0.98 |
R6092:Iars1
|
UTSW |
13 |
49,861,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R6167:Iars1
|
UTSW |
13 |
49,876,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R6313:Iars1
|
UTSW |
13 |
49,861,921 (GRCm39) |
missense |
probably damaging |
0.99 |
R6358:Iars1
|
UTSW |
13 |
49,880,619 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6385:Iars1
|
UTSW |
13 |
49,855,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R6403:Iars1
|
UTSW |
13 |
49,840,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R6575:Iars1
|
UTSW |
13 |
49,878,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R6675:Iars1
|
UTSW |
13 |
49,873,054 (GRCm39) |
missense |
probably damaging |
0.99 |
R6957:Iars1
|
UTSW |
13 |
49,875,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R7207:Iars1
|
UTSW |
13 |
49,841,791 (GRCm39) |
critical splice donor site |
probably null |
|
R7254:Iars1
|
UTSW |
13 |
49,876,554 (GRCm39) |
critical splice donor site |
probably null |
|
R7354:Iars1
|
UTSW |
13 |
49,857,796 (GRCm39) |
missense |
probably benign |
|
R7397:Iars1
|
UTSW |
13 |
49,882,153 (GRCm39) |
missense |
probably benign |
0.00 |
R7696:Iars1
|
UTSW |
13 |
49,860,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R7799:Iars1
|
UTSW |
13 |
49,876,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R7828:Iars1
|
UTSW |
13 |
49,878,748 (GRCm39) |
missense |
probably benign |
|
R8679:Iars1
|
UTSW |
13 |
49,856,675 (GRCm39) |
unclassified |
probably benign |
|
R8768:Iars1
|
UTSW |
13 |
49,878,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R8797:Iars1
|
UTSW |
13 |
49,841,738 (GRCm39) |
missense |
probably benign |
0.12 |
R8906:Iars1
|
UTSW |
13 |
49,882,177 (GRCm39) |
missense |
probably benign |
|
R8990:Iars1
|
UTSW |
13 |
49,841,752 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9134:Iars1
|
UTSW |
13 |
49,855,323 (GRCm39) |
missense |
probably benign |
0.00 |
R9137:Iars1
|
UTSW |
13 |
49,855,350 (GRCm39) |
missense |
probably benign |
|
R9394:Iars1
|
UTSW |
13 |
49,883,536 (GRCm39) |
missense |
probably benign |
|
R9668:Iars1
|
UTSW |
13 |
49,840,885 (GRCm39) |
missense |
probably damaging |
0.98 |
R9741:Iars1
|
UTSW |
13 |
49,844,978 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Iars1
|
UTSW |
13 |
49,874,564 (GRCm39) |
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 |