Incidental Mutation 'R5960:Iars1'
| ID |
471426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iars1
|
| Ensembl Gene |
ENSMUSG00000037851 |
| Gene Name |
isoleucyl-tRNA synthetase 1 |
| Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
| MMRRC Submission |
044147-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5960 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49835606-49887743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49878113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 879
(V879A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047363]
[ENSMUST00000164260]
[ENSMUST00000165316]
|
| AlphaFold |
Q8BU30 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047363
AA Change: V879A
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: V879A
| 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 |
possibly damaging
Transcript: ENSMUST00000164260
AA Change: V879A
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: V879A
| 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 |
possibly damaging
Transcript: ENSMUST00000165316
AA Change: V879A
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: V879A
| 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 |
0.7020 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
| Validation Efficiency |
99% (71/72) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,528 (GRCm39) |
T30A |
possibly damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,233 (GRCm39) |
M197V |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,115,489 (GRCm39) |
T210A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,648,178 (GRCm39) |
S886R |
possibly damaging |
Het |
| Aopep |
G |
A |
13: 63,388,087 (GRCm39) |
R22Q |
probably damaging |
Het |
| Atg2a |
T |
G |
19: 6,304,390 (GRCm39) |
F1136V |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,835,760 (GRCm39) |
T72S |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,717,869 (GRCm39) |
T219A |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,884,208 (GRCm39) |
|
probably benign |
Het |
| Cdh12 |
A |
G |
15: 21,492,562 (GRCm39) |
|
probably null |
Het |
| Cfap126 |
A |
G |
1: 170,952,882 (GRCm39) |
D45G |
probably damaging |
Het |
| Ciz1 |
C |
A |
2: 32,261,228 (GRCm39) |
Q356K |
possibly damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,194,058 (GRCm39) |
I407N |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,121,430 (GRCm39) |
E1756K |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,411,404 (GRCm39) |
K94E |
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,023,193 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,465,807 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,788,554 (GRCm39) |
G138* |
probably null |
Het |
| Fam20a |
G |
A |
11: 109,566,795 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
G |
7: 79,093,510 (GRCm39) |
T1006A |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,405 (GRCm39) |
Y3320H |
probably damaging |
Het |
| Fndc8 |
A |
G |
11: 82,788,398 (GRCm39) |
D76G |
probably benign |
Het |
| Gm19965 |
T |
C |
1: 116,749,201 (GRCm39) |
I294T |
possibly damaging |
Het |
| Gm9755 |
T |
G |
8: 67,967,840 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi209 |
A |
T |
1: 173,466,382 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
T |
C |
16: 96,227,459 (GRCm39) |
H528R |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,970,281 (GRCm39) |
Q146R |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,567,731 (GRCm39) |
T407A |
probably benign |
Het |
| Mtg1 |
T |
C |
7: 139,726,906 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,402,724 (GRCm39) |
S1317A |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,115,865 (GRCm39) |
V933A |
probably damaging |
Het |
| Nudt16 |
A |
T |
9: 105,008,698 (GRCm39) |
C63S |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,625,915 (GRCm39) |
I49V |
probably null |
Het |
| Or51a24 |
G |
T |
7: 103,733,560 (GRCm39) |
N242K |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,069 (GRCm39) |
S267T |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,495 (GRCm39) |
S671P |
possibly damaging |
Het |
| Paox |
A |
G |
7: 139,712,402 (GRCm39) |
D211G |
probably benign |
Het |
| Pck2 |
A |
G |
14: 55,786,004 (GRCm39) |
T571A |
possibly damaging |
Het |
| Pigg |
A |
G |
5: 108,484,160 (GRCm39) |
E469G |
probably benign |
Het |
| Pikfyve |
C |
A |
1: 65,292,597 (GRCm39) |
Y1349* |
probably null |
Het |
| Prickle2 |
A |
G |
6: 92,353,286 (GRCm39) |
F783L |
probably benign |
Het |
| Prpf40b |
G |
T |
15: 99,212,785 (GRCm39) |
R627L |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,903,437 (GRCm39) |
I1217V |
possibly damaging |
Het |
| Rbm26 |
A |
T |
14: 105,387,751 (GRCm39) |
V457D |
probably damaging |
Het |
| Rex1bd |
C |
A |
8: 70,959,156 (GRCm39) |
R49L |
probably null |
Het |
| Robo2 |
A |
T |
16: 73,730,603 (GRCm39) |
L1003Q |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,446,144 (GRCm39) |
D2730G |
probably benign |
Het |
| Setd6 |
T |
A |
8: 96,442,827 (GRCm39) |
L88H |
probably damaging |
Het |
| Smim35 |
T |
C |
9: 45,154,288 (GRCm39) |
Y50H |
probably damaging |
Het |
| Sncb |
A |
G |
13: 54,910,795 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,225 (GRCm39) |
H985L |
probably benign |
Het |
| Spmap2 |
T |
G |
10: 79,421,765 (GRCm39) |
K151T |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,530,442 (GRCm39) |
E2233G |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,475,770 (GRCm39) |
V410I |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,494 (GRCm39) |
S281P |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,100,598 (GRCm39) |
R330C |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,488,915 (GRCm39) |
D741V |
probably benign |
Het |
| Tph1 |
A |
G |
7: 46,311,429 (GRCm39) |
|
probably null |
Het |
| Trav7-5 |
T |
A |
14: 53,768,706 (GRCm39) |
H91Q |
probably benign |
Het |
| Tymp |
A |
T |
15: 89,260,778 (GRCm39) |
|
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
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 |
|
|
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'- TGCCTTGATCACAGATGTGC -3'
(R):5'- TAAAGATGAAGTGGTCCTCGGG -3'
Sequencing Primer
(F):5'- GTGCACATCACAGCCCC -3'
(R):5'- CTCGGGCGAGGACACGG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation