Incidental Mutation 'R6313:Iars1'
ID |
510541 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iars1
|
Ensembl Gene |
ENSMUSG00000037851 |
Gene Name |
isoleucyl-tRNA synthetase 1 |
Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
MMRRC Submission |
044470-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6313 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49835606-49887743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49861921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 491
(S491P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047363]
[ENSMUST00000164260]
[ENSMUST00000165316]
[ENSMUST00000171510]
|
AlphaFold |
Q8BU30 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047363
AA Change: S491P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000048096 Gene: ENSMUSG00000037851 AA Change: S491P
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: S491P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126806 Gene: ENSMUSG00000037851 AA Change: S491P
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: ENSMUST00000164275
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165063
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165316
AA Change: S491P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132082 Gene: ENSMUSG00000037851 AA Change: S491P
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 |
silent
Transcript: ENSMUST00000171510
|
SMART Domains |
Protein: ENSMUSP00000130204 Gene: ENSMUSG00000037851
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1
|
1 |
96 |
5.6e-28 |
PFAM |
|
Meta Mutation Damage Score |
0.4606 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (70/70) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,126,344 (GRCm39) |
F1167L |
probably damaging |
Het |
Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
Acaca |
C |
T |
11: 84,183,755 (GRCm39) |
T32I |
probably benign |
Het |
Adam6a |
A |
T |
12: 113,508,670 (GRCm39) |
N348Y |
possibly damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arhgef38 |
T |
C |
3: 132,940,469 (GRCm39) |
D39G |
possibly damaging |
Het |
Arid5b |
T |
C |
10: 67,933,412 (GRCm39) |
D587G |
possibly damaging |
Het |
Brwd1 |
A |
G |
16: 95,809,141 (GRCm39) |
V1963A |
probably benign |
Het |
Ccdc136 |
T |
A |
6: 29,410,204 (GRCm39) |
L34Q |
probably damaging |
Het |
Cdh2 |
T |
C |
18: 16,907,579 (GRCm39) |
Q53R |
probably benign |
Het |
Celsr2 |
G |
A |
3: 108,308,530 (GRCm39) |
S1799L |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,935,936 (GRCm39) |
E457G |
probably benign |
Het |
Cmtm1 |
A |
T |
8: 105,031,795 (GRCm39) |
M283K |
possibly damaging |
Het |
Dcdc5 |
T |
C |
2: 106,198,516 (GRCm39) |
|
noncoding transcript |
Het |
Decr1 |
T |
A |
4: 15,924,261 (GRCm39) |
M220L |
probably benign |
Het |
Dgkg |
T |
G |
16: 22,338,311 (GRCm39) |
D592A |
probably damaging |
Het |
Dkkl1 |
T |
C |
7: 44,860,862 (GRCm39) |
Q39R |
probably benign |
Het |
Dyrk1a |
T |
A |
16: 94,460,373 (GRCm39) |
C10S |
possibly damaging |
Het |
Efcab2 |
A |
T |
1: 178,308,936 (GRCm39) |
E146D |
probably benign |
Het |
Efhc1 |
T |
C |
1: 21,049,652 (GRCm39) |
V504A |
possibly damaging |
Het |
Ermard |
T |
G |
17: 15,273,467 (GRCm39) |
|
probably null |
Het |
Espl1 |
T |
C |
15: 102,224,247 (GRCm39) |
V1266A |
probably benign |
Het |
Fbxw22 |
A |
C |
9: 109,232,465 (GRCm39) |
V40G |
probably damaging |
Het |
Gm3629 |
A |
T |
14: 17,834,409 (GRCm39) |
I194N |
possibly damaging |
Het |
Gnai2 |
C |
T |
9: 107,497,296 (GRCm39) |
V33M |
possibly damaging |
Het |
H2-DMb1 |
T |
C |
17: 34,376,506 (GRCm39) |
|
probably null |
Het |
Hc |
T |
C |
2: 34,879,851 (GRCm39) |
|
probably null |
Het |
Knl1 |
T |
A |
2: 118,899,799 (GRCm39) |
L500H |
probably damaging |
Het |
Lamb1 |
A |
T |
12: 31,319,146 (GRCm39) |
T102S |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,866,373 (GRCm39) |
S1123P |
probably damaging |
Het |
Mettl5 |
C |
A |
2: 69,702,071 (GRCm39) |
|
probably null |
Het |
Mmp11 |
A |
G |
10: 75,759,818 (GRCm39) |
*4R |
probably null |
Het |
Myom1 |
A |
T |
17: 71,389,483 (GRCm39) |
D911V |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,638,367 (GRCm39) |
T96A |
probably benign |
Het |
Nlrp4e |
G |
T |
7: 23,052,597 (GRCm39) |
V839L |
probably benign |
Het |
Notch3 |
A |
T |
17: 32,370,128 (GRCm39) |
|
probably null |
Het |
Or8k35 |
T |
C |
2: 86,424,411 (GRCm39) |
T254A |
possibly damaging |
Het |
Pcdh8 |
T |
C |
14: 80,005,091 (GRCm39) |
H978R |
probably benign |
Het |
Pde8b |
A |
T |
13: 95,178,508 (GRCm39) |
C537* |
probably null |
Het |
Polr1b |
T |
C |
2: 128,967,366 (GRCm39) |
F920L |
probably damaging |
Het |
Polr2f |
A |
G |
15: 79,035,573 (GRCm39) |
T87A |
probably damaging |
Het |
Pon2 |
T |
A |
6: 5,272,421 (GRCm39) |
H133L |
probably damaging |
Het |
Pou2af2 |
C |
T |
9: 51,201,481 (GRCm39) |
D192N |
probably damaging |
Het |
Ptk2b |
T |
A |
14: 66,416,280 (GRCm39) |
E205V |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,314,357 (GRCm39) |
M343K |
probably benign |
Het |
Rlf |
G |
A |
4: 121,005,807 (GRCm39) |
R1058W |
probably damaging |
Het |
S100z |
T |
A |
13: 95,615,082 (GRCm39) |
K28* |
probably null |
Het |
Scarf1 |
T |
A |
11: 75,411,141 (GRCm39) |
N273K |
probably benign |
Het |
Setd2 |
A |
G |
9: 110,385,434 (GRCm39) |
I136M |
unknown |
Het |
Sfrp2 |
A |
G |
3: 83,674,291 (GRCm39) |
D148G |
probably benign |
Het |
Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
Slc2a9 |
T |
G |
5: 38,610,464 (GRCm39) |
I112L |
probably benign |
Het |
Smc5 |
A |
T |
19: 23,186,312 (GRCm39) |
Y972* |
probably null |
Het |
Sntg1 |
T |
C |
1: 8,515,248 (GRCm39) |
|
probably null |
Het |
Spata31h1 |
T |
C |
10: 82,129,470 (GRCm39) |
N1180S |
probably benign |
Het |
Stag1 |
A |
G |
9: 100,639,786 (GRCm39) |
D114G |
probably damaging |
Het |
Suclg1 |
T |
C |
6: 73,233,192 (GRCm39) |
S46P |
probably damaging |
Het |
Synj1 |
C |
T |
16: 90,743,703 (GRCm39) |
A1186T |
probably benign |
Het |
Tas2r124 |
A |
G |
6: 132,732,410 (GRCm39) |
T240A |
probably benign |
Het |
Tax1bp1 |
T |
C |
6: 52,721,341 (GRCm39) |
|
probably null |
Het |
Tchh |
C |
A |
3: 93,355,158 (GRCm39) |
Q1533K |
unknown |
Het |
Tmprss15 |
T |
C |
16: 78,759,058 (GRCm39) |
T887A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,536,937 (GRCm39) |
I34963V |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,078,878 (GRCm39) |
G1485D |
probably damaging |
Het |
Usp9y |
G |
T |
Y: 1,385,355 (GRCm39) |
H633N |
probably benign |
Homo |
Vmn2r99 |
A |
T |
17: 19,602,867 (GRCm39) |
N541Y |
probably damaging |
Het |
Zbtb11 |
T |
A |
16: 55,810,854 (GRCm39) |
N337K |
probably benign |
Het |
Zfp260 |
T |
A |
7: 29,804,267 (GRCm39) |
C56S |
possibly damaging |
Het |
Zfp457 |
C |
T |
13: 67,440,746 (GRCm39) |
E610K |
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 |
|
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 |
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'- CGGGAACAAAGCTAGCACTG -3'
(R):5'- CCCTCAATCTGAAAGGTCGTG -3'
Sequencing Primer
(F):5'- GTCAGGTTTCTACAGCCA -3'
(R):5'- CACCGAAGTTATGTGGCATTTC -3'
|
Posted On |
2018-04-02 |