Incidental Mutation 'R7254:Iars1'
ID |
564155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iars1
|
Ensembl Gene |
ENSMUSG00000037851 |
Gene Name |
isoleucyl-tRNA synthetase 1 |
Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
MMRRC Submission |
045315-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7254 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49835606-49887743 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 49876554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047363]
[ENSMUST00000047363]
[ENSMUST00000164260]
[ENSMUST00000164260]
[ENSMUST00000165316]
[ENSMUST00000165316]
|
AlphaFold |
Q8BU30 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047363
|
SMART Domains |
Protein: ENSMUSP00000048096 Gene: ENSMUSG00000037851
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 null
Transcript: ENSMUST00000047363
|
SMART Domains |
Protein: ENSMUSP00000048096 Gene: ENSMUSG00000037851
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 null
Transcript: ENSMUST00000164260
|
SMART Domains |
Protein: ENSMUSP00000126806 Gene: ENSMUSG00000037851
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 null
Transcript: ENSMUST00000164260
|
SMART Domains |
Protein: ENSMUSP00000126806 Gene: ENSMUSG00000037851
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 null
Transcript: ENSMUST00000165316
|
SMART Domains |
Protein: ENSMUSP00000132082 Gene: ENSMUSG00000037851
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 null
Transcript: ENSMUST00000165316
|
SMART Domains |
Protein: ENSMUSP00000132082 Gene: ENSMUSG00000037851
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (59/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
A |
T |
7: 43,147,623 (GRCm39) |
D249E |
probably damaging |
Het |
Acacb |
A |
C |
5: 114,347,812 (GRCm39) |
|
probably null |
Het |
Adnp |
A |
G |
2: 168,025,918 (GRCm39) |
V459A |
probably damaging |
Het |
Arid3b |
T |
C |
9: 57,704,037 (GRCm39) |
K304E |
probably damaging |
Het |
Ash1l |
G |
T |
3: 88,977,816 (GRCm39) |
R2713L |
probably damaging |
Het |
Bmpr1a |
A |
C |
14: 34,136,720 (GRCm39) |
D490E |
probably benign |
Het |
Cacna1g |
A |
T |
11: 94,323,393 (GRCm39) |
C1270* |
probably null |
Het |
Cep295nl |
G |
T |
11: 118,223,866 (GRCm39) |
P326Q |
probably damaging |
Het |
Cfap100 |
T |
C |
6: 90,383,043 (GRCm39) |
I377V |
unknown |
Het |
Creb1 |
C |
T |
1: 64,615,436 (GRCm39) |
Q223* |
probably null |
Het |
Ctsc |
G |
A |
7: 87,958,767 (GRCm39) |
G349D |
probably damaging |
Het |
Ddx41 |
G |
A |
13: 55,681,769 (GRCm39) |
R311* |
probably null |
Het |
Dpcd |
A |
G |
19: 45,565,473 (GRCm39) |
Q149R |
probably benign |
Het |
Dse |
T |
A |
10: 34,060,144 (GRCm39) |
|
probably benign |
Het |
Dync2i1 |
A |
G |
12: 116,226,205 (GRCm39) |
|
probably benign |
Het |
Eef2k |
C |
T |
7: 120,488,488 (GRCm39) |
H458Y |
probably benign |
Het |
Gipr |
A |
T |
7: 18,897,538 (GRCm39) |
V90E |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,009,189 (GRCm39) |
D22E |
probably damaging |
Het |
Gm21886 |
A |
T |
18: 80,132,950 (GRCm39) |
C69* |
probably null |
Het |
Gm5114 |
G |
A |
7: 39,058,390 (GRCm39) |
L410F |
probably benign |
Het |
Gmip |
T |
A |
8: 70,269,118 (GRCm39) |
|
probably null |
Het |
Gtf2f1 |
T |
C |
17: 57,314,101 (GRCm39) |
T128A |
possibly damaging |
Het |
Hnrnpr |
A |
G |
4: 136,059,886 (GRCm39) |
E330G |
possibly damaging |
Het |
Hoxd9 |
T |
A |
2: 74,528,718 (GRCm39) |
W107R |
probably damaging |
Het |
Idh2 |
TCCCAGGGCC |
TCC |
7: 79,748,079 (GRCm39) |
|
probably null |
Het |
Ifi213 |
G |
T |
1: 173,421,529 (GRCm39) |
P120Q |
probably damaging |
Het |
Il6 |
A |
T |
5: 30,219,906 (GRCm39) |
Q94L |
probably benign |
Het |
Kcnab1 |
A |
G |
3: 65,226,908 (GRCm39) |
S196G |
probably benign |
Het |
Kcnv1 |
C |
T |
15: 44,976,604 (GRCm39) |
V228I |
probably benign |
Het |
Lars2 |
A |
G |
9: 123,284,028 (GRCm39) |
T739A |
possibly damaging |
Het |
Med13 |
T |
C |
11: 86,210,661 (GRCm39) |
S494G |
probably benign |
Het |
Mtrf1 |
GCCTTC |
GC |
14: 79,660,931 (GRCm39) |
|
probably null |
Het |
Myh9 |
T |
G |
15: 77,650,024 (GRCm39) |
Q1646P |
probably damaging |
Het |
Nif3l1 |
T |
A |
1: 58,489,625 (GRCm39) |
S171R |
probably benign |
Het |
Or13n4 |
A |
G |
7: 106,422,777 (GRCm39) |
*319Q |
probably null |
Het |
Or1e1c |
A |
G |
11: 73,266,201 (GRCm39) |
I212V |
probably benign |
Het |
Or1r1 |
A |
G |
11: 73,874,603 (GRCm39) |
V277A |
probably benign |
Het |
Or51f23 |
A |
G |
7: 102,452,765 (GRCm39) |
T27A |
probably benign |
Het |
Or5b113 |
A |
T |
19: 13,342,475 (GRCm39) |
D161V |
probably benign |
Het |
Or6c5b |
T |
C |
10: 129,245,649 (GRCm39) |
V138A |
probably benign |
Het |
Or8c8 |
T |
C |
9: 38,164,719 (GRCm39) |
M2T |
probably benign |
Het |
Pak5 |
A |
T |
2: 135,958,684 (GRCm39) |
S135T |
possibly damaging |
Het |
Prr29 |
A |
T |
11: 106,265,684 (GRCm39) |
M1L |
probably damaging |
Het |
Ptpn13 |
T |
A |
5: 103,742,502 (GRCm39) |
V2407E |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,741,978 (GRCm39) |
H1310L |
probably damaging |
Het |
Raph1 |
T |
C |
1: 60,538,767 (GRCm39) |
S393G |
unknown |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Ror2 |
A |
G |
13: 53,272,756 (GRCm39) |
I303T |
possibly damaging |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scn10a |
C |
T |
9: 119,447,921 (GRCm39) |
D1378N |
probably damaging |
Het |
Serpinc1 |
T |
A |
1: 160,821,188 (GRCm39) |
C91S |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,889,790 (GRCm39) |
I677V |
probably benign |
Het |
Tada1 |
T |
A |
1: 166,216,217 (GRCm39) |
C139* |
probably null |
Het |
Tbr1 |
T |
A |
2: 61,636,386 (GRCm39) |
V254E |
probably damaging |
Het |
Timd4 |
A |
T |
11: 46,734,016 (GRCm39) |
I340F |
probably benign |
Het |
Tubb2a |
T |
C |
13: 34,258,515 (GRCm39) |
Y425C |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,819,476 (GRCm39) |
M287K |
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 |
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 |
|
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'- ATGAATGGCCTGGAGCTAGC -3'
(R):5'- CCCTAGTGCATTCACAAACTGC -3'
Sequencing Primer
(F):5'- GCTTAGCTAAATAGTAACCAGACAG -3'
(R):5'- GCTGGCCTTGAACTCAGAAATCTG -3'
|
Posted On |
2019-06-26 |