Incidental Mutation 'R8797:Iars1'
| ID |
671329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iars1
|
| Ensembl Gene |
ENSMUSG00000037851 |
| Gene Name |
isoleucyl-tRNA synthetase 1 |
| Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
| MMRRC Submission |
068638-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49835606-49887743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 49841738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 75
(S75R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047363]
[ENSMUST00000164260]
[ENSMUST00000165316]
[ENSMUST00000172254]
|
| AlphaFold |
Q8BU30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047363
AA Change: S75R
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: S75R
| 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: S75R
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: S75R
| 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: S75R
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: S75R
| 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: ENSMUST00000172254
AA Change: S75R
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000130058
Gene: ENSMUSG00000037851
AA Change: S75R
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
C |
A |
7: 119,137,374 (GRCm39) |
P397T |
probably damaging |
Het |
| Adamts14 |
C |
T |
10: 61,106,781 (GRCm39) |
R113K |
probably benign |
Het |
| Baiap2 |
G |
A |
11: 119,897,201 (GRCm39) |
V519I |
probably benign |
Het |
| Ccna1 |
C |
T |
3: 54,953,069 (GRCm39) |
A233T |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,389,931 (GRCm39) |
Y862H |
probably damaging |
Het |
| Crygc |
C |
T |
1: 65,111,030 (GRCm39) |
A86T |
probably benign |
Het |
| Cyb5d2 |
T |
G |
11: 72,669,662 (GRCm39) |
N232T |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,465,412 (GRCm39) |
H1193N |
probably benign |
Het |
| Dnah17 |
T |
G |
11: 117,992,201 (GRCm39) |
E1170A |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,162,806 (GRCm39) |
Y384C |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,053,278 (GRCm39) |
V4091I |
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| G6pc2 |
A |
G |
2: 69,050,441 (GRCm39) |
Y22C |
probably benign |
Het |
| Gpihbp1 |
A |
T |
15: 75,469,828 (GRCm39) |
Q181L |
possibly damaging |
Het |
| H2bc4 |
C |
T |
13: 23,868,552 (GRCm39) |
S113L |
probably damaging |
Het |
| Hhatl |
A |
T |
9: 121,619,965 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,902,573 (GRCm39) |
I375F |
possibly damaging |
Het |
| Itih4 |
A |
G |
14: 30,618,529 (GRCm39) |
I647V |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,060,616 (GRCm39) |
C703S |
probably benign |
Het |
| L3mbtl2 |
C |
T |
15: 81,569,615 (GRCm39) |
T619I |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,231,684 (GRCm39) |
T722A |
possibly damaging |
Het |
| Meioc |
C |
T |
11: 102,567,686 (GRCm39) |
Q827* |
probably null |
Het |
| Meis2 |
T |
C |
2: 115,694,986 (GRCm39) |
S386G |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,071,876 (GRCm39) |
D543V |
probably damaging |
Het |
| Ms4a13 |
C |
T |
19: 11,161,200 (GRCm39) |
R113H |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,613,325 (GRCm39) |
Y826C |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,366,711 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
A |
C |
14: 38,093,243 (GRCm39) |
L542R |
probably benign |
Het |
| Or13j1 |
T |
C |
4: 43,706,455 (GRCm39) |
T38A |
probably damaging |
Het |
| Or2y8 |
T |
A |
11: 52,036,340 (GRCm39) |
T6S |
probably benign |
Het |
| Or6c65 |
T |
A |
10: 129,603,674 (GRCm39) |
I103K |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,419,978 (GRCm39) |
N1212S |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,443,472 (GRCm39) |
T1229I |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,374,946 (GRCm39) |
H1483L |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,532,879 (GRCm39) |
L840* |
probably null |
Het |
| Psd4 |
A |
T |
2: 24,287,440 (GRCm39) |
R457S |
probably benign |
Het |
| Relch |
T |
C |
1: 105,678,121 (GRCm39) |
S1149P |
possibly damaging |
Het |
| Rgs12 |
A |
G |
5: 35,186,915 (GRCm39) |
S194G |
|
Het |
| Rps3 |
A |
G |
7: 99,132,797 (GRCm39) |
|
probably null |
Het |
| Saxo4 |
T |
C |
19: 10,455,602 (GRCm39) |
I216V |
probably benign |
Het |
| Sgcb |
G |
T |
5: 73,793,036 (GRCm39) |
N255K |
probably benign |
Het |
| Sla2 |
A |
G |
2: 156,717,799 (GRCm39) |
Y158H |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,823 (GRCm39) |
Q150* |
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,012,455 (GRCm39) |
Y193N |
possibly damaging |
Het |
| Supt16 |
G |
T |
14: 52,409,960 (GRCm39) |
T749K |
probably damaging |
Het |
| Uqcrc2 |
A |
G |
7: 120,239,500 (GRCm39) |
E104G |
probably damaging |
Het |
| Vasp |
T |
C |
7: 18,994,563 (GRCm39) |
N251S |
unknown |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,965 (GRCm39) |
M161T |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,619,906 (GRCm39) |
L20* |
probably null |
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 |
|
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'- CCCCAGCTCTGTCTGAATGG -3'
(R):5'- GGTTATGCTAACAGCCACACC -3'
Sequencing Primer
(F):5'- GGACCTCCAGTAGATTTCTAGTC -3'
(R):5'- GTTATGCTAACAGCCACACCTAATAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation