Incidental Mutation 'R9668:Iars1'
| ID |
727948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iars1
|
| Ensembl Gene |
ENSMUSG00000037851 |
| Gene Name |
isoleucyl-tRNA synthetase 1 |
| Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9668 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49835606-49887743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49840885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 6
(P6L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047363]
[ENSMUST00000164260]
[ENSMUST00000165316]
[ENSMUST00000172254]
|
| AlphaFold |
Q8BU30 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047363
AA Change: P6L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: P6L
| 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: P6L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: P6L
| 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: P6L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: P6L
| 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: ENSMUST00000172254
AA Change: P6L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130058
Gene: ENSMUSG00000037851
AA Change: P6L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1
|
17 |
92 |
5.9e-33 |
PFAM |
|
Pfam:tRNA-synt_1g
|
46 |
92 |
4.2e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
G |
T |
11: 116,089,137 (GRCm39) |
Y60* |
probably null |
Het |
| Acp7 |
T |
A |
7: 28,314,562 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
G |
A |
7: 66,797,438 (GRCm39) |
V1052I |
possibly damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,368,594 (GRCm39) |
E42V |
possibly damaging |
Het |
| Ano1 |
C |
A |
7: 144,164,579 (GRCm39) |
|
probably null |
Het |
| Atp5pb |
C |
T |
3: 105,863,356 (GRCm39) |
V27I |
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,671,418 (GRCm39) |
S494P |
probably damaging |
Het |
| Cd320 |
G |
A |
17: 34,065,113 (GRCm39) |
C82Y |
probably damaging |
Het |
| Cdc16 |
T |
A |
8: 13,817,552 (GRCm39) |
S288T |
possibly damaging |
Het |
| Chrne |
A |
G |
11: 70,507,779 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
G |
A |
9: 79,546,960 (GRCm39) |
Q2291* |
probably null |
Het |
| Cps1 |
A |
G |
1: 67,213,649 (GRCm39) |
S794G |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,261,772 (GRCm39) |
D908E |
probably benign |
Het |
| Dpf1 |
C |
T |
7: 29,009,084 (GRCm39) |
Q70* |
probably null |
Het |
| Fam227a |
A |
T |
15: 79,526,444 (GRCm39) |
N129K |
probably benign |
Het |
| Fcho2 |
T |
A |
13: 98,913,965 (GRCm39) |
I211F |
probably benign |
Het |
| Fezf1 |
T |
C |
6: 23,247,574 (GRCm39) |
D167G |
probably benign |
Het |
| Flt3 |
G |
A |
5: 147,293,694 (GRCm39) |
P461S |
probably benign |
Het |
| Fry |
G |
T |
5: 150,282,318 (GRCm39) |
A314S |
probably damaging |
Het |
| Gm6309 |
A |
G |
5: 146,105,026 (GRCm39) |
S296P |
probably benign |
Het |
| Gmppb |
T |
G |
9: 107,928,362 (GRCm39) |
V291G |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,619,492 (GRCm39) |
S1207R |
probably benign |
Het |
| Kdm5d |
T |
A |
Y: 943,075 (GRCm39) |
S1519R |
possibly damaging |
Het |
| Kpna2 |
G |
A |
11: 106,881,541 (GRCm39) |
T363I |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,075,982 (GRCm39) |
H1886Q |
|
Het |
| Meak7 |
T |
C |
8: 120,488,514 (GRCm39) |
E436G |
probably damaging |
Het |
| Mettl5 |
C |
T |
2: 69,711,723 (GRCm39) |
D48N |
probably benign |
Het |
| Mfsd4a |
C |
T |
1: 131,969,628 (GRCm39) |
G442S |
probably damaging |
Het |
| Mief2 |
A |
G |
11: 60,622,074 (GRCm39) |
T215A |
probably damaging |
Het |
| Myt1 |
C |
T |
2: 181,452,135 (GRCm39) |
T824I |
probably damaging |
Het |
| Naprt |
C |
A |
15: 75,765,281 (GRCm39) |
V148L |
possibly damaging |
Het |
| Nckap1l |
C |
T |
15: 103,382,277 (GRCm39) |
R491C |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,071,573 (GRCm39) |
M321T |
possibly damaging |
Het |
| Nup107 |
A |
T |
10: 117,610,383 (GRCm39) |
I355N |
possibly damaging |
Het |
| Or10j2 |
G |
A |
1: 173,098,183 (GRCm39) |
G147D |
possibly damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,898 (GRCm39) |
N88Y |
probably benign |
Het |
| Or1e28-ps1 |
A |
G |
11: 73,615,658 (GRCm39) |
I64T |
probably benign |
Het |
| Or1l4b |
T |
G |
2: 37,036,518 (GRCm39) |
M98R |
probably damaging |
Het |
| Or4a80 |
T |
G |
2: 89,582,636 (GRCm39) |
I179L |
probably benign |
Het |
| Or4k35 |
T |
G |
2: 111,100,287 (GRCm39) |
I142L |
probably benign |
Het |
| Pccb |
T |
C |
9: 100,876,634 (GRCm39) |
D320G |
possibly damaging |
Het |
| Pcdhgb6 |
A |
T |
18: 37,875,561 (GRCm39) |
I90L |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,221,459 (GRCm39) |
S682P |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plagl1 |
A |
G |
10: 13,004,466 (GRCm39) |
Q578R |
unknown |
Het |
| Ppp1r42 |
A |
G |
1: 10,073,563 (GRCm39) |
I9T |
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,871,275 (GRCm39) |
I315K |
possibly damaging |
Het |
| Rnf217 |
A |
G |
10: 31,484,402 (GRCm39) |
L260P |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,968,975 (GRCm39) |
H525L |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,244,347 (GRCm39) |
M303K |
probably benign |
Het |
| Shprh |
A |
T |
10: 11,082,076 (GRCm39) |
I1549F |
probably damaging |
Het |
| Slc38a7 |
G |
T |
8: 96,570,772 (GRCm39) |
A244D |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,949,740 (GRCm39) |
T63K |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,898,468 (GRCm39) |
S962P |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,711,135 (GRCm39) |
I133V |
probably damaging |
Het |
| Tars1 |
T |
A |
15: 11,394,446 (GRCm39) |
K64* |
probably null |
Het |
| Tcaf3 |
A |
T |
6: 42,566,636 (GRCm39) |
W818R |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tmem70 |
A |
C |
1: 16,735,659 (GRCm39) |
E43A |
probably benign |
Het |
| Trim72 |
C |
A |
7: 127,609,092 (GRCm39) |
A298E |
probably damaging |
Het |
| Washc5 |
C |
T |
15: 59,218,062 (GRCm39) |
|
probably null |
Het |
| Zfp707 |
C |
A |
15: 75,847,085 (GRCm39) |
F378L |
possibly damaging |
Het |
| Zfp839 |
G |
A |
12: 110,822,280 (GRCm39) |
A365T |
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 |
|
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 |
|
|
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'- AGTGGTGATGGTTACATGCC -3'
(R):5'- CCTACTGTAGGGAAAGGCACAG -3'
Sequencing Primer
(F):5'- CCTAAAAATCCTATTCAGCTGACTG -3'
(R):5'- CACAGACTCTGAGAACTTACAGGTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation