Incidental Mutation 'R5972:Iars1'
| ID |
471482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iars1
|
| Ensembl Gene |
ENSMUSG00000037851 |
| Gene Name |
isoleucyl-tRNA synthetase 1 |
| Synonyms |
Iars, 2510016L12Rik, E430001P04Rik |
| MMRRC Submission |
044155-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49835606-49887743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49863108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 520
(V520A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047363]
[ENSMUST00000164260]
[ENSMUST00000165316]
[ENSMUST00000171510]
|
| AlphaFold |
Q8BU30 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047363
AA Change: V520A
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: V520A
| 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: ENSMUST00000104172
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164260
AA Change: V520A
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: V520A
| 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: ENSMUST00000164275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165063
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165316
AA Change: V520A
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: V520A
| 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: ENSMUST00000171510
|
| SMART Domains |
Protein: ENSMUSP00000130204
Gene: ENSMUSG00000037851
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1
|
1 |
96 |
5.6e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,649,070 (GRCm39) |
M305K |
probably benign |
Het |
| Accs |
G |
T |
2: 93,669,572 (GRCm39) |
H283N |
probably damaging |
Het |
| Actl6b |
A |
T |
5: 137,564,818 (GRCm39) |
H283L |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,425,583 (GRCm39) |
L32P |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,733,756 (GRCm39) |
I1672T |
probably damaging |
Het |
| Bambi |
T |
A |
18: 3,512,354 (GRCm39) |
V246E |
probably damaging |
Het |
| BC048679 |
A |
G |
7: 81,145,479 (GRCm39) |
L29P |
probably damaging |
Het |
| Bmal2 |
A |
G |
6: 146,711,187 (GRCm39) |
M64V |
probably damaging |
Het |
| Camk4 |
T |
C |
18: 33,240,979 (GRCm39) |
L92P |
probably damaging |
Het |
| Ddx11 |
C |
A |
17: 66,455,085 (GRCm39) |
Q655K |
probably benign |
Het |
| Ddx52 |
A |
G |
11: 83,844,051 (GRCm39) |
|
probably null |
Het |
| Entrep3 |
T |
A |
3: 89,093,115 (GRCm39) |
V213D |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,791,763 (GRCm39) |
|
probably null |
Het |
| Erap1 |
T |
A |
13: 74,810,423 (GRCm39) |
|
probably null |
Het |
| Flg |
T |
A |
3: 93,186,849 (GRCm39) |
N100K |
probably benign |
Het |
| Grip2 |
A |
T |
6: 91,784,262 (GRCm39) |
V13E |
probably benign |
Het |
| Impa1 |
A |
G |
3: 10,394,064 (GRCm39) |
M1T |
probably null |
Het |
| Ip6k3 |
T |
C |
17: 27,368,934 (GRCm39) |
T179A |
possibly damaging |
Het |
| Krt87 |
T |
A |
15: 101,385,467 (GRCm39) |
M302L |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,726,267 (GRCm39) |
Y899H |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,020,250 (GRCm39) |
I1145N |
possibly damaging |
Het |
| Mapk11 |
A |
T |
15: 89,028,387 (GRCm39) |
D324E |
probably benign |
Het |
| Melk |
C |
T |
4: 44,351,007 (GRCm39) |
T516I |
probably benign |
Het |
| Mia2 |
C |
T |
12: 59,193,723 (GRCm39) |
H130Y |
probably damaging |
Het |
| Mroh5 |
C |
T |
15: 73,662,568 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
T |
C |
9: 49,418,829 (GRCm39) |
T824A |
possibly damaging |
Het |
| Neurog1 |
T |
C |
13: 56,399,211 (GRCm39) |
S179G |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 58,985,633 (GRCm39) |
L79Q |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,457,290 (GRCm39) |
M46K |
probably damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,491,366 (GRCm39) |
K626E |
probably benign |
Het |
| Pdss2 |
T |
A |
10: 43,174,922 (GRCm39) |
Y143N |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,408,812 (GRCm39) |
S2433N |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,518,639 (GRCm39) |
T309A |
possibly damaging |
Het |
| Prdm4 |
C |
T |
10: 85,743,365 (GRCm39) |
V297M |
probably damaging |
Het |
| Rab15 |
T |
C |
12: 76,847,377 (GRCm39) |
Y148C |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,664,409 (GRCm39) |
N1627K |
probably damaging |
Het |
| Scn1a |
G |
T |
2: 66,181,454 (GRCm39) |
A23E |
possibly damaging |
Het |
| Smtn |
A |
T |
11: 3,483,486 (GRCm39) |
I30N |
probably damaging |
Het |
| Sympk |
A |
G |
7: 18,780,749 (GRCm39) |
K751E |
probably benign |
Het |
| Usp24 |
C |
T |
4: 106,225,264 (GRCm39) |
P632L |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,498,738 (GRCm39) |
I391T |
probably benign |
Het |
| Vmn2r54 |
G |
A |
7: 12,349,279 (GRCm39) |
P768S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,369,874 (GRCm39) |
C63Y |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,677,483 (GRCm39) |
C2844W |
possibly 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 |
|
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 |
PCR Primer
(F):5'- CACCACTGTACATGTAGTCCCC -3'
(R):5'- CAGAGGCATGTGGGCATTTAG -3'
Sequencing Primer
(F):5'- GTACATGTAGTCCCCCACTCAC -3'
(R):5'- TAGAAACTCATGCTTGGCGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation