Incidental Mutation 'R7828:Iars1'
| ID |
602457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iars1
|
| Ensembl Gene |
ENSMUSG00000037851 |
| Gene Name |
isoleucyl-tRNA synthetase 1 |
| Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
| MMRRC Submission |
045882-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7828 (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 A
at 49878748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 948
(M948K)
|
| 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: M948K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: M948K
| 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: M948K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: M948K
| 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 benign
Transcript: ENSMUST00000165316
AA Change: M948K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: M948K
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (64/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,254,904 (GRCm39) |
T869A |
probably benign |
Het |
| Aqr |
T |
A |
2: 113,979,497 (GRCm39) |
I313F |
probably damaging |
Het |
| Arid1b |
C |
A |
17: 5,147,943 (GRCm39) |
P615Q |
probably damaging |
Het |
| Asb16 |
C |
A |
11: 102,168,753 (GRCm39) |
Q410K |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,313,214 (GRCm39) |
E335G |
possibly damaging |
Het |
| AU041133 |
C |
T |
10: 81,987,054 (GRCm39) |
H236Y |
probably damaging |
Het |
| Bhmt |
T |
A |
13: 93,754,156 (GRCm39) |
Y351F |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,886,501 (GRCm39) |
S610P |
probably damaging |
Het |
| Cab39l |
T |
C |
14: 59,737,159 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
A |
T |
5: 107,120,816 (GRCm39) |
Q146L |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,044,642 (GRCm39) |
H328R |
possibly damaging |
Het |
| Cdsn |
T |
C |
17: 35,865,878 (GRCm39) |
S136P |
unknown |
Het |
| Ces3b |
T |
A |
8: 105,813,228 (GRCm39) |
L203Q |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,676,489 (GRCm39) |
V840A |
probably damaging |
Het |
| Ctse |
T |
C |
1: 131,590,491 (GRCm39) |
L71P |
probably damaging |
Het |
| Ears2 |
G |
T |
7: 121,647,563 (GRCm39) |
S240R |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,687,386 (GRCm39) |
I756V |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,135,127 (GRCm39) |
Y587H |
probably benign |
Het |
| Fcamr |
G |
T |
1: 130,739,443 (GRCm39) |
A248S |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,633,171 (GRCm39) |
W51* |
probably null |
Het |
| Hfm1 |
A |
T |
5: 107,029,657 (GRCm39) |
|
probably null |
Het |
| Hhip |
T |
C |
8: 80,724,837 (GRCm39) |
I312V |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,295,887 (GRCm39) |
N2658K |
possibly damaging |
Het |
| Il27ra |
A |
G |
8: 84,758,187 (GRCm39) |
L521S |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,459,892 (GRCm39) |
D2062G |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,876,800 (GRCm39) |
R784S |
probably benign |
Het |
| Maea |
T |
A |
5: 33,517,722 (GRCm39) |
D87E |
probably benign |
Het |
| Man2a2 |
A |
G |
7: 80,016,674 (GRCm39) |
I380T |
probably damaging |
Het |
| Mprip |
G |
T |
11: 59,627,915 (GRCm39) |
G253W |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,967,436 (GRCm39) |
R462H |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,366,979 (GRCm39) |
I342F |
probably damaging |
Het |
| Oosp1 |
C |
A |
19: 11,668,369 (GRCm39) |
V5L |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,848,169 (GRCm39) |
M137K |
probably damaging |
Het |
| Or5b113 |
G |
A |
19: 13,342,510 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c74 |
A |
G |
10: 129,869,756 (GRCm39) |
D87G |
probably damaging |
Het |
| Or7g12 |
T |
C |
9: 18,900,216 (GRCm39) |
S311P |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,752,848 (GRCm39) |
M95T |
probably damaging |
Het |
| Pcdh17 |
C |
G |
14: 84,770,425 (GRCm39) |
R968G |
probably damaging |
Het |
| Pcdhb7 |
T |
G |
18: 37,476,915 (GRCm39) |
S684A |
probably damaging |
Het |
| Polr1b |
T |
G |
2: 128,947,200 (GRCm39) |
I175R |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,535 (GRCm39) |
D36G |
probably damaging |
Het |
| Prr14l |
G |
A |
5: 33,001,735 (GRCm39) |
|
probably benign |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Sbspon |
T |
G |
1: 15,930,543 (GRCm39) |
K148Q |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,918 (GRCm39) |
V587E |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,444,078 (GRCm39) |
|
probably null |
Het |
| Sh2d5 |
C |
A |
4: 137,984,108 (GRCm39) |
P85T |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,008,602 (GRCm39) |
V204D |
possibly damaging |
Het |
| Slc2a8 |
G |
A |
2: 32,870,080 (GRCm39) |
R154* |
probably null |
Het |
| Slc36a3 |
C |
T |
11: 55,042,024 (GRCm39) |
G42S |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,296 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a5 |
T |
A |
7: 13,362,768 (GRCm39) |
|
probably null |
Het |
| Thoc5 |
T |
C |
11: 4,852,306 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,805,381 (GRCm39) |
S153P |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,221,615 (GRCm39) |
L228Q |
probably benign |
Het |
| Upk3b |
G |
A |
5: 136,068,993 (GRCm39) |
G121S |
possibly damaging |
Het |
| Usp1 |
T |
A |
4: 98,820,544 (GRCm39) |
S456R |
probably damaging |
Het |
| Usp28 |
A |
T |
9: 48,915,202 (GRCm39) |
N126Y |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,710,878 (GRCm39) |
V2411M |
possibly damaging |
Het |
| Zfp595 |
C |
T |
13: 67,465,769 (GRCm39) |
E165K |
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 |
|
|
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 |
|
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'- AGTGGCTACAGTGGGCTTTC -3'
(R):5'- AGGCAGGTTAAAATATGTGCCC -3'
Sequencing Primer
(F):5'- CTACAGTGGGCTTTCCTAAAGGAC -3'
(R):5'- GGAGTTCCAGGACATTCTCAGCTAC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation