Incidental Mutation 'R1449:Iars1'
ID |
159162 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iars1
|
Ensembl Gene |
ENSMUSG00000037851 |
Gene Name |
isoleucyl-tRNA synthetase 1 |
Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
MMRRC Submission |
039504-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1449 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
49835606-49887743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 49887186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 1253
(V1253D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047363]
[ENSMUST00000164260]
[ENSMUST00000165316]
|
AlphaFold |
Q8BU30 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047363
AA Change: V1253D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000048096 Gene: ENSMUSG00000037851 AA Change: V1253D
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 damaging
Transcript: ENSMUST00000164260
AA Change: V1253D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126806 Gene: ENSMUSG00000037851 AA Change: V1253D
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 |
probably damaging
Transcript: ENSMUST00000165316
AA Change: V1253D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132082 Gene: ENSMUSG00000037851 AA Change: V1253D
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 |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.4%
|
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. 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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
A |
G |
4: 137,182,666 (GRCm39) |
N274D |
possibly damaging |
Het |
6430571L13Rik |
T |
A |
9: 107,219,689 (GRCm39) |
N47K |
probably damaging |
Het |
Aasdh |
C |
T |
5: 77,034,136 (GRCm39) |
A472T |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,248,580 (GRCm39) |
T2776A |
probably damaging |
Het |
Adamts10 |
T |
A |
17: 33,764,613 (GRCm39) |
V711D |
probably damaging |
Het |
Adrb3 |
G |
A |
8: 27,717,415 (GRCm39) |
R345C |
probably damaging |
Het |
Ak7 |
T |
C |
12: 105,708,520 (GRCm39) |
V325A |
possibly damaging |
Het |
Armc6 |
G |
A |
8: 70,677,943 (GRCm39) |
L129F |
probably benign |
Het |
Bend6 |
T |
C |
1: 33,917,424 (GRCm39) |
N10S |
probably benign |
Het |
Bmpr1b |
T |
C |
3: 141,577,134 (GRCm39) |
E59G |
possibly damaging |
Het |
Brd3 |
A |
G |
2: 27,340,263 (GRCm39) |
|
probably null |
Het |
Brd3 |
A |
G |
2: 27,347,028 (GRCm39) |
Y369H |
probably damaging |
Het |
Cacna1e |
C |
T |
1: 154,361,408 (GRCm39) |
|
probably null |
Het |
Camk4 |
A |
G |
18: 33,072,528 (GRCm39) |
D27G |
probably damaging |
Het |
Camkk1 |
T |
G |
11: 72,924,710 (GRCm39) |
S308A |
probably damaging |
Het |
Catsperb |
A |
G |
12: 101,554,456 (GRCm39) |
T717A |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,212,730 (GRCm39) |
S1563R |
probably damaging |
Het |
Cep44 |
A |
T |
8: 56,993,985 (GRCm39) |
S197R |
probably benign |
Het |
Col3a1 |
T |
A |
1: 45,360,771 (GRCm39) |
I67N |
unknown |
Het |
Dcaf12l1 |
T |
C |
X: 43,878,304 (GRCm39) |
T165A |
probably benign |
Het |
Dicer1 |
T |
C |
12: 104,695,502 (GRCm39) |
Y143C |
possibly damaging |
Het |
Dlg5 |
A |
G |
14: 24,185,711 (GRCm39) |
I1898T |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 30,985,908 (GRCm39) |
N3762D |
probably damaging |
Het |
Dscaml1 |
A |
T |
9: 45,653,521 (GRCm39) |
T1382S |
possibly damaging |
Het |
Entpd3 |
A |
T |
9: 120,395,555 (GRCm39) |
R513W |
probably damaging |
Het |
Foxred1 |
A |
G |
9: 35,120,738 (GRCm39) |
S132P |
probably damaging |
Het |
Ftsj3 |
T |
C |
11: 106,143,826 (GRCm39) |
I273V |
probably benign |
Het |
Hsd17b7 |
C |
T |
1: 169,787,251 (GRCm39) |
|
probably null |
Het |
Iqsec1 |
T |
A |
6: 90,667,790 (GRCm39) |
K216* |
probably null |
Het |
Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
Kcnk2 |
G |
A |
1: 189,072,223 (GRCm39) |
S35L |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,966,212 (GRCm39) |
Y402C |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,126,241 (GRCm39) |
S484P |
probably benign |
Het |
Lap3 |
T |
C |
5: 45,666,861 (GRCm39) |
|
probably null |
Het |
Lhx8 |
G |
T |
3: 154,033,742 (GRCm39) |
S46* |
probably null |
Het |
Lin7a |
T |
C |
10: 107,159,813 (GRCm39) |
S42P |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,261,585 (GRCm39) |
R1513Q |
probably damaging |
Het |
Maml2 |
C |
A |
9: 13,531,980 (GRCm39) |
P398Q |
possibly damaging |
Het |
Mast2 |
T |
C |
4: 116,166,210 (GRCm39) |
I1201V |
probably damaging |
Het |
Mmp20 |
A |
T |
9: 7,642,769 (GRCm39) |
D201V |
probably damaging |
Het |
Morn5 |
T |
A |
2: 35,947,092 (GRCm39) |
C123* |
probably null |
Het |
Mrpl4 |
A |
G |
9: 20,918,807 (GRCm39) |
K175E |
possibly damaging |
Het |
Nav3 |
A |
T |
10: 109,689,372 (GRCm39) |
S302T |
probably benign |
Het |
Ndrg2 |
T |
C |
14: 52,145,591 (GRCm39) |
Y217C |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 40,976,803 (GRCm39) |
D159G |
probably damaging |
Het |
Nlrp9b |
A |
T |
7: 19,757,089 (GRCm39) |
T109S |
possibly damaging |
Het |
Npepps |
A |
G |
11: 97,097,980 (GRCm39) |
Y909H |
probably benign |
Het |
Or10g1 |
A |
G |
14: 52,648,024 (GRCm39) |
C102R |
probably damaging |
Het |
Or11g7 |
A |
G |
14: 50,691,378 (GRCm39) |
N290D |
probably damaging |
Het |
Or51a25 |
A |
T |
7: 102,373,397 (GRCm39) |
F100Y |
probably damaging |
Het |
Or6c211 |
T |
A |
10: 129,506,238 (GRCm39) |
D50V |
probably damaging |
Het |
Or6c69b |
A |
C |
10: 129,626,723 (GRCm39) |
V245G |
probably damaging |
Het |
Pcdh1 |
T |
C |
18: 38,322,929 (GRCm39) |
H968R |
probably damaging |
Het |
Pde1b |
T |
A |
15: 103,433,470 (GRCm39) |
I296N |
probably damaging |
Het |
Phldb1 |
T |
A |
9: 44,627,930 (GRCm39) |
T172S |
probably benign |
Het |
Plxdc2 |
T |
C |
2: 16,665,592 (GRCm39) |
V215A |
possibly damaging |
Het |
Poln |
A |
G |
5: 34,171,682 (GRCm39) |
I695T |
probably damaging |
Het |
Pou6f2 |
G |
T |
13: 18,347,000 (GRCm39) |
Q31K |
probably damaging |
Het |
Psd |
T |
A |
19: 46,313,250 (GRCm39) |
Y40F |
probably damaging |
Het |
Rnf126 |
T |
C |
10: 79,597,448 (GRCm39) |
N155D |
probably benign |
Het |
Rpl36-ps3 |
C |
A |
12: 12,962,032 (GRCm39) |
|
noncoding transcript |
Het |
Rrp15 |
C |
A |
1: 186,468,465 (GRCm39) |
V184F |
possibly damaging |
Het |
Rslcan18 |
G |
T |
13: 67,250,164 (GRCm39) |
L24M |
possibly damaging |
Het |
Sall1 |
A |
G |
8: 89,759,111 (GRCm39) |
I331T |
probably benign |
Het |
Slamf7 |
A |
T |
1: 171,468,606 (GRCm39) |
N95K |
possibly damaging |
Het |
Slc1a6 |
T |
C |
10: 78,635,951 (GRCm39) |
Y339H |
probably damaging |
Het |
Slc39a8 |
A |
G |
3: 135,532,446 (GRCm39) |
N72D |
probably benign |
Het |
Slf1 |
A |
G |
13: 77,231,568 (GRCm39) |
S604P |
probably damaging |
Het |
Slfn4 |
C |
T |
11: 83,079,819 (GRCm39) |
T110M |
probably benign |
Het |
Tnpo1 |
T |
C |
13: 99,015,220 (GRCm39) |
T116A |
probably damaging |
Het |
Tor1b |
T |
C |
2: 30,845,893 (GRCm39) |
I190T |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,800,138 (GRCm39) |
E357* |
probably null |
Het |
Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
Ubap2 |
A |
G |
4: 41,209,351 (GRCm39) |
|
probably null |
Het |
Ube2i |
T |
C |
17: 25,487,538 (GRCm39) |
D67G |
possibly damaging |
Het |
Ubxn11 |
A |
G |
4: 133,852,203 (GRCm39) |
E50G |
probably damaging |
Het |
Wnk1 |
A |
G |
6: 119,929,779 (GRCm39) |
V1246A |
probably damaging |
Het |
Zcchc7 |
A |
G |
4: 44,929,124 (GRCm39) |
T38A |
possibly damaging |
Het |
Zfp236 |
A |
G |
18: 82,664,130 (GRCm39) |
S552P |
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 |
R0184:Iars1
|
UTSW |
13 |
49,875,688 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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'- GCTAACCAGAGGACGAGCTGTG -3'
(R):5'- GCAGCATATTTGACAAGTGCCCAAG -3'
Sequencing Primer
(F):5'- ccgctgttgcctcctcc -3'
(R):5'- TGCCCAAGGAGATAACTTCACTG -3'
|
Posted On |
2014-03-14 |