Incidental Mutation 'R6167:Iars1'
ID |
490214 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iars1
|
Ensembl Gene |
ENSMUSG00000037851 |
Gene Name |
isoleucyl-tRNA synthetase 1 |
Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
MMRRC Submission |
044313-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6167 (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 49876190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 825
(M825K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047363]
[ENSMUST00000164260]
[ENSMUST00000165316]
|
AlphaFold |
Q8BU30 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047363
AA Change: M825K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000048096 Gene: ENSMUSG00000037851 AA Change: M825K
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: M825K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126806 Gene: ENSMUSG00000037851 AA Change: M825K
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 |
probably damaging
Transcript: ENSMUST00000165316
AA Change: M825K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132082 Gene: ENSMUSG00000037851 AA Change: M825K
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (50/51) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,182,931 (GRCm39) |
E1042V |
probably benign |
Het |
Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
Aip |
T |
G |
19: 4,165,188 (GRCm39) |
D227A |
probably benign |
Het |
Ankrd13d |
T |
C |
19: 4,323,081 (GRCm39) |
H283R |
probably damaging |
Het |
Aox4 |
C |
T |
1: 58,303,094 (GRCm39) |
T1175I |
probably damaging |
Het |
Atn1 |
T |
C |
6: 124,723,700 (GRCm39) |
|
probably benign |
Het |
Camkk2 |
A |
G |
5: 122,902,187 (GRCm39) |
S41P |
probably damaging |
Het |
Ceacam16 |
G |
A |
7: 19,595,182 (GRCm39) |
|
probably benign |
Het |
Dcaf15 |
T |
C |
8: 84,824,626 (GRCm39) |
N524D |
possibly damaging |
Het |
Dcaf7 |
A |
T |
11: 105,928,077 (GRCm39) |
Y43F |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,433,287 (GRCm39) |
I453V |
probably benign |
Het |
Etv1 |
A |
T |
12: 38,915,640 (GRCm39) |
T413S |
possibly damaging |
Het |
Evx2 |
A |
C |
2: 74,489,606 (GRCm39) |
L53R |
probably damaging |
Het |
Fam168b |
G |
A |
1: 34,858,684 (GRCm39) |
A166V |
probably damaging |
Het |
Fancm |
A |
T |
12: 65,141,669 (GRCm39) |
Y430F |
probably benign |
Het |
Fyb2 |
A |
G |
4: 104,802,661 (GRCm39) |
T188A |
possibly damaging |
Het |
Gabbr1 |
T |
C |
17: 37,374,271 (GRCm39) |
I538T |
probably damaging |
Het |
Glyctk |
T |
A |
9: 106,033,691 (GRCm39) |
T208S |
possibly damaging |
Het |
Golga7 |
T |
C |
8: 23,735,904 (GRCm39) |
D114G |
probably damaging |
Het |
Grip1 |
T |
C |
10: 119,733,702 (GRCm39) |
|
probably null |
Het |
Gtf2f1 |
G |
T |
17: 57,311,161 (GRCm39) |
S351R |
probably damaging |
Het |
Hook2 |
T |
C |
8: 85,721,642 (GRCm39) |
L300P |
probably damaging |
Het |
Hsf4 |
A |
G |
8: 105,997,481 (GRCm39) |
S45G |
probably damaging |
Het |
Kcnj2 |
A |
G |
11: 110,963,315 (GRCm39) |
I236V |
probably benign |
Het |
Large2 |
G |
A |
2: 92,197,433 (GRCm39) |
T354I |
probably benign |
Het |
Mak |
C |
A |
13: 41,206,828 (GRCm39) |
V101F |
probably benign |
Het |
Mylk2 |
A |
G |
2: 152,757,673 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
T |
5: 113,020,373 (GRCm39) |
|
probably null |
Het |
Neb |
T |
A |
2: 52,037,249 (GRCm39) |
H2955L |
probably benign |
Het |
Neurl1a |
G |
C |
19: 47,228,367 (GRCm39) |
G71A |
probably damaging |
Het |
Ogfrl1 |
A |
T |
1: 23,415,309 (GRCm39) |
L142Q |
probably damaging |
Het |
Or11g27 |
C |
A |
14: 50,771,612 (GRCm39) |
H248N |
probably damaging |
Het |
Or1e27-ps1 |
A |
G |
11: 73,556,160 (GRCm39) |
T242A |
probably damaging |
Het |
P3h4 |
C |
A |
11: 100,302,671 (GRCm39) |
A322S |
probably damaging |
Het |
Piwil2 |
A |
C |
14: 70,660,342 (GRCm39) |
|
probably null |
Het |
Pkd2l2 |
A |
G |
18: 34,561,297 (GRCm39) |
D435G |
probably damaging |
Het |
Plekha6 |
A |
G |
1: 133,207,145 (GRCm39) |
N567S |
probably null |
Het |
Prss54 |
G |
A |
8: 96,286,173 (GRCm39) |
P300L |
possibly damaging |
Het |
Pxdn |
G |
A |
12: 30,024,000 (GRCm39) |
R67Q |
probably damaging |
Het |
Rapgef3 |
C |
A |
15: 97,665,292 (GRCm39) |
|
probably benign |
Het |
Sec24b |
C |
T |
3: 129,782,550 (GRCm39) |
G1147S |
possibly damaging |
Het |
Sh2b3 |
A |
T |
5: 121,966,418 (GRCm39) |
|
probably null |
Het |
Sh3glb1 |
A |
T |
3: 144,397,664 (GRCm39) |
D358E |
probably damaging |
Het |
Shmt2 |
C |
T |
10: 127,353,731 (GRCm39) |
R478H |
probably benign |
Het |
Slc1a6 |
A |
G |
10: 78,637,671 (GRCm39) |
E399G |
probably benign |
Het |
Slc22a23 |
T |
A |
13: 34,528,542 (GRCm39) |
Y80F |
probably damaging |
Het |
Slc25a19 |
A |
G |
11: 115,506,377 (GRCm39) |
V272A |
probably benign |
Het |
Stk32a |
A |
T |
18: 43,446,474 (GRCm39) |
D308V |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,707,657 (GRCm39) |
I1698V |
possibly damaging |
Het |
Thoc5 |
G |
A |
11: 4,865,497 (GRCm39) |
V359M |
probably benign |
Het |
Tmpo |
C |
T |
10: 90,998,800 (GRCm39) |
R329H |
probably benign |
Het |
Trim8 |
T |
C |
19: 46,503,626 (GRCm39) |
S393P |
probably benign |
Het |
Vill |
A |
T |
9: 118,895,932 (GRCm39) |
Y103F |
probably damaging |
Het |
Zfp948 |
T |
G |
17: 21,807,911 (GRCm39) |
F368V |
probably benign |
Het |
Zpld1 |
C |
T |
16: 55,053,962 (GRCm39) |
E277K |
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 |
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'- GCAGTGGGTGACATCTTTTC -3'
(R):5'- TGTTGAACGCTCATCTGTCTGG -3'
Sequencing Primer
(F):5'- CTCAGTTATCGCTGGAGACCTAG -3'
(R):5'- TAAGCTAGCTCCAGGCCATTC -3'
|
Posted On |
2017-10-10 |