Incidental Mutation 'R2192:Iars1'
ID |
266101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iars1
|
Ensembl Gene |
ENSMUSG00000037851 |
Gene Name |
isoleucyl-tRNA synthetase 1 |
Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
MMRRC Submission |
040194-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2192 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
49835606-49887743 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 49841605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047363]
[ENSMUST00000164260]
[ENSMUST00000165316]
[ENSMUST00000172254]
|
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 |
noncoding transcript
Transcript: ENSMUST00000157338
|
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: ENSMUST00000172254
|
SMART Domains |
Protein: ENSMUSP00000130058 Gene: ENSMUSG00000037851
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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra1d |
A |
T |
2: 131,403,289 (GRCm39) |
M267K |
probably damaging |
Het |
Aen |
T |
C |
7: 78,555,793 (GRCm39) |
|
probably null |
Het |
Ano2 |
A |
G |
6: 125,992,502 (GRCm39) |
D825G |
probably damaging |
Het |
Bdh2 |
T |
C |
3: 135,001,025 (GRCm39) |
S142P |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,800,924 (GRCm39) |
L2507P |
possibly damaging |
Het |
Ces3a |
T |
C |
8: 105,782,212 (GRCm39) |
F308S |
probably benign |
Het |
Cfap47 |
C |
T |
X: 78,454,218 (GRCm39) |
R1646Q |
probably damaging |
Het |
Chd4 |
T |
A |
6: 125,082,320 (GRCm39) |
M603K |
probably damaging |
Het |
Cit |
T |
C |
5: 116,106,068 (GRCm39) |
V984A |
probably benign |
Het |
Clstn3 |
A |
T |
6: 124,436,166 (GRCm39) |
D194E |
probably damaging |
Het |
Ctdp1 |
T |
C |
18: 80,492,696 (GRCm39) |
R600G |
probably benign |
Het |
Ctnnd1 |
C |
T |
2: 84,439,907 (GRCm39) |
G801D |
probably damaging |
Het |
Dgkg |
A |
G |
16: 22,407,049 (GRCm39) |
F179L |
probably damaging |
Het |
Dlg3 |
G |
A |
X: 99,817,827 (GRCm39) |
D379N |
probably damaging |
Het |
Drd2 |
G |
T |
9: 49,314,571 (GRCm39) |
R267S |
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,675 (GRCm39) |
*1061Q |
probably null |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Edc3 |
T |
C |
9: 57,620,826 (GRCm39) |
V49A |
probably damaging |
Het |
Ern1 |
G |
A |
11: 106,300,750 (GRCm39) |
T548I |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,838,192 (GRCm39) |
D2684G |
possibly damaging |
Het |
Fam20a |
A |
G |
11: 109,565,449 (GRCm39) |
M454T |
probably benign |
Het |
Fbp2 |
A |
G |
13: 63,006,056 (GRCm39) |
M19T |
possibly damaging |
Het |
Frmd4b |
A |
T |
6: 97,464,577 (GRCm39) |
C47S |
probably damaging |
Het |
Gtf2h1 |
T |
A |
7: 46,464,747 (GRCm39) |
I388N |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,453,206 (GRCm39) |
V571A |
possibly damaging |
Het |
Helz2 |
T |
A |
2: 180,870,841 (GRCm39) |
K2832* |
probably null |
Het |
Herc1 |
T |
A |
9: 66,372,688 (GRCm39) |
D3081E |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,591,566 (GRCm39) |
S1878T |
probably damaging |
Het |
Il17rd |
A |
T |
14: 26,816,835 (GRCm39) |
K180M |
probably damaging |
Het |
Ints6l |
T |
A |
X: 55,550,110 (GRCm39) |
H678Q |
probably benign |
Het |
Khdrbs1 |
A |
G |
4: 129,613,830 (GRCm39) |
|
probably null |
Het |
Lce3a |
A |
C |
3: 92,832,837 (GRCm39) |
S88A |
unknown |
Het |
Lgals12 |
C |
T |
19: 7,578,606 (GRCm39) |
|
probably null |
Het |
Lnpk |
T |
C |
2: 74,399,373 (GRCm39) |
T57A |
probably benign |
Het |
Lrp2bp |
C |
T |
8: 46,466,206 (GRCm39) |
T105I |
probably benign |
Het |
Lrrc4c |
C |
G |
2: 97,459,657 (GRCm39) |
N94K |
possibly damaging |
Het |
Mag |
A |
T |
7: 30,600,066 (GRCm39) |
Y571* |
probably null |
Het |
Mbd1 |
T |
A |
18: 74,410,449 (GRCm39) |
D583E |
probably damaging |
Het |
Mill1 |
T |
A |
7: 17,998,544 (GRCm39) |
Y251* |
probably null |
Het |
Mllt10 |
T |
C |
2: 18,211,871 (GRCm39) |
I928T |
probably benign |
Het |
Ms4a18 |
T |
C |
19: 10,991,029 (GRCm39) |
T22A |
probably benign |
Het |
Mtmr14 |
T |
C |
6: 113,257,700 (GRCm39) |
F250L |
probably damaging |
Het |
Mtmr3 |
A |
T |
11: 4,449,032 (GRCm39) |
W244R |
probably damaging |
Het |
Myorg |
A |
G |
4: 41,497,704 (GRCm39) |
I642T |
probably damaging |
Het |
Nat10 |
C |
A |
2: 103,556,522 (GRCm39) |
E885D |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,321,054 (GRCm39) |
L2055H |
probably damaging |
Het |
Necab3 |
T |
A |
2: 154,388,999 (GRCm39) |
I192F |
possibly damaging |
Het |
Nedd4 |
T |
A |
9: 72,650,000 (GRCm39) |
N783K |
probably damaging |
Het |
Nf2 |
A |
T |
11: 4,749,899 (GRCm39) |
W61R |
probably damaging |
Het |
Nox4 |
T |
A |
7: 87,023,588 (GRCm39) |
F491L |
probably benign |
Het |
Omt2b |
G |
A |
9: 78,235,457 (GRCm39) |
|
probably benign |
Het |
Or4c125 |
A |
T |
2: 89,170,009 (GRCm39) |
Y212* |
probably null |
Het |
Or4c127 |
T |
A |
2: 89,832,774 (GRCm39) |
I8N |
probably damaging |
Het |
Or8i2 |
A |
G |
2: 86,852,855 (GRCm39) |
V11A |
probably benign |
Het |
Osbpl5 |
A |
T |
7: 143,247,596 (GRCm39) |
Y723* |
probably null |
Het |
Otop2 |
T |
C |
11: 115,217,757 (GRCm39) |
S198P |
possibly damaging |
Het |
Pgam5 |
T |
G |
5: 110,413,785 (GRCm39) |
H126P |
probably damaging |
Het |
Phip |
A |
T |
9: 82,753,868 (GRCm39) |
N1625K |
probably damaging |
Het |
Phospho2 |
T |
A |
2: 69,626,451 (GRCm39) |
Y202* |
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,347,156 (GRCm39) |
H176Q |
unknown |
Het |
Plxdc2 |
A |
G |
2: 16,570,147 (GRCm39) |
R109G |
probably damaging |
Het |
Prorsd1 |
T |
C |
11: 29,463,592 (GRCm39) |
K57E |
probably benign |
Het |
Rnf150 |
A |
T |
8: 83,591,020 (GRCm39) |
R128W |
probably damaging |
Het |
Samm50 |
G |
A |
15: 84,084,625 (GRCm39) |
|
probably null |
Het |
Skint6 |
A |
T |
4: 112,722,909 (GRCm39) |
Y889* |
probably null |
Het |
Slc35b1 |
T |
C |
11: 95,276,640 (GRCm39) |
Y40H |
probably damaging |
Het |
Speg |
A |
G |
1: 75,394,371 (GRCm39) |
H1722R |
probably damaging |
Het |
Suz12 |
T |
C |
11: 79,913,024 (GRCm39) |
L356P |
probably damaging |
Het |
Tln2 |
T |
G |
9: 67,262,503 (GRCm39) |
I585L |
probably damaging |
Het |
Trim2 |
G |
A |
3: 84,098,225 (GRCm39) |
Q359* |
probably null |
Het |
Ttc28 |
T |
C |
5: 111,371,362 (GRCm39) |
Y635H |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,543,549 (GRCm39) |
E33146K |
probably damaging |
Het |
Vcp |
G |
T |
4: 42,982,547 (GRCm39) |
T715K |
probably benign |
Het |
Vmn1r230 |
T |
A |
17: 21,067,355 (GRCm39) |
N181K |
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,582,144 (GRCm39) |
M511K |
possibly damaging |
Het |
Wdfy3 |
C |
T |
5: 102,055,408 (GRCm39) |
R1554Q |
possibly damaging |
Het |
Zfp112 |
A |
T |
7: 23,824,863 (GRCm39) |
Q277L |
probably damaging |
Het |
Zfp850 |
T |
C |
7: 27,684,620 (GRCm39) |
E42G |
probably damaging |
Het |
Zfp976 |
G |
A |
7: 42,262,695 (GRCm39) |
P381S |
probably damaging |
Het |
Zzef1 |
A |
T |
11: 72,800,982 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
Posted On |
2015-02-05 |