Incidental Mutation 'R5286:Iars2'
| ID |
424337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iars2
|
| Ensembl Gene |
ENSMUSG00000026618 |
| Gene Name |
isoleucine-tRNA synthetase 2, mitochondrial |
| Synonyms |
2010002H18Rik |
| MMRRC Submission |
042870-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5286 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
185018839-185061615 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 185055318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027921]
[ENSMUST00000110974]
[ENSMUST00000110975]
|
| AlphaFold |
Q8BIJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027921
|
| SMART Domains |
Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
87 |
712 |
3.6e-172 |
PFAM |
|
Pfam:tRNA-synt_1g
|
112 |
268 |
7e-15 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
334 |
462 |
3.8e-7 |
PFAM |
|
Pfam:Anticodon_1
|
756 |
920 |
1.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110974
|
| SMART Domains |
Protein: ENSMUSP00000106601
Gene: ENSMUSG00000026618
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
87 |
552 |
2e-130 |
PFAM |
|
Pfam:tRNA-synt_1g
|
113 |
269 |
2.2e-17 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
293 |
462 |
9e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110975
|
| SMART Domains |
Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
87 |
712 |
1.2e-171 |
PFAM |
|
Pfam:tRNA-synt_1g
|
113 |
269 |
3.4e-17 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
293 |
462 |
1.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153211
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (64/64) |
| 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. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,742,358 (GRCm39) |
I417V |
probably benign |
Het |
| Adad1 |
T |
C |
3: 37,119,399 (GRCm39) |
V160A |
possibly damaging |
Het |
| Adcy7 |
A |
G |
8: 89,051,487 (GRCm39) |
E869G |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,977,242 (GRCm39) |
A4352T |
probably damaging |
Het |
| Brd2 |
T |
A |
17: 34,334,205 (GRCm39) |
T286S |
probably damaging |
Het |
| Bsn |
G |
T |
9: 107,988,123 (GRCm39) |
|
probably benign |
Het |
| Cables1 |
A |
G |
18: 12,057,884 (GRCm39) |
T335A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 30,072,682 (GRCm39) |
S98T |
possibly damaging |
Het |
| Ccdc181 |
A |
G |
1: 164,105,810 (GRCm39) |
Y15C |
probably damaging |
Het |
| Dlgap4 |
T |
G |
2: 156,587,839 (GRCm39) |
V39G |
probably damaging |
Het |
| Epb41l3 |
G |
A |
17: 69,569,268 (GRCm39) |
R504H |
probably benign |
Het |
| Fbxo7 |
T |
C |
10: 85,857,954 (GRCm39) |
L23P |
probably damaging |
Het |
| Gm42791 |
A |
C |
5: 148,887,178 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
A |
T |
7: 118,582,910 (GRCm39) |
F320I |
possibly damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,262,580 (GRCm39) |
T1093M |
possibly damaging |
Het |
| Hddc3 |
G |
T |
7: 79,993,543 (GRCm39) |
R83L |
probably damaging |
Het |
| Ift25 |
T |
A |
4: 107,136,998 (GRCm39) |
I132N |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,599 (GRCm39) |
K1656E |
probably benign |
Het |
| Itk |
A |
C |
11: 46,228,926 (GRCm39) |
|
probably null |
Het |
| Klra6 |
G |
A |
6: 129,995,932 (GRCm39) |
T142I |
probably benign |
Het |
| Knop1 |
C |
T |
7: 118,454,993 (GRCm39) |
A3T |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,808,608 (GRCm39) |
H788R |
probably damaging |
Het |
| Lrif1 |
A |
G |
3: 106,639,859 (GRCm39) |
R315G |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,109,903 (GRCm39) |
D93G |
probably benign |
Het |
| Ngef |
T |
C |
1: 87,473,552 (GRCm39) |
S77G |
probably benign |
Het |
| Nt5dc3 |
T |
C |
10: 86,640,656 (GRCm39) |
S13P |
probably benign |
Het |
| Or9s13 |
T |
C |
1: 92,548,084 (GRCm39) |
V152A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,729,761 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,378,368 (GRCm39) |
Q1041* |
probably null |
Het |
| Ppl |
G |
A |
16: 4,906,987 (GRCm39) |
R1103* |
probably null |
Het |
| Ppp4r3b |
T |
A |
11: 29,161,667 (GRCm39) |
D680E |
probably benign |
Het |
| Rasgrf2 |
T |
G |
13: 92,267,941 (GRCm39) |
K21T |
possibly damaging |
Het |
| Rev1 |
T |
A |
1: 38,094,407 (GRCm39) |
K1004* |
probably null |
Het |
| Rgs9 |
T |
G |
11: 109,130,277 (GRCm39) |
|
probably null |
Het |
| Rnf31 |
T |
C |
14: 55,829,693 (GRCm39) |
L86P |
probably damaging |
Het |
| Rps13 |
A |
G |
7: 115,933,155 (GRCm39) |
Y18H |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,958,909 (GRCm39) |
F33S |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,532,428 (GRCm39) |
V2895D |
probably benign |
Het |
| Syn3 |
T |
C |
10: 86,187,428 (GRCm39) |
N232S |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,404,140 (GRCm39) |
Y772N |
probably damaging |
Het |
| Tspan4 |
A |
G |
7: 141,062,483 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
A |
2: 76,684,530 (GRCm39) |
|
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,084,120 (GRCm39) |
W98R |
probably damaging |
Het |
| Vwa5b2 |
A |
T |
16: 20,415,058 (GRCm39) |
D360V |
probably damaging |
Het |
| Wdr73 |
A |
T |
7: 80,541,557 (GRCm39) |
D328E |
probably benign |
Het |
| Xpo5 |
A |
G |
17: 46,545,406 (GRCm39) |
N824S |
probably benign |
Het |
| Zbtb2 |
C |
T |
10: 4,318,566 (GRCm39) |
G487S |
possibly damaging |
Het |
|
| Other mutations in Iars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Iars2
|
APN |
1 |
185,048,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00906:Iars2
|
APN |
1 |
185,028,600 (GRCm39) |
splice site |
probably benign |
|
|
IGL01287:Iars2
|
APN |
1 |
185,028,625 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01814:Iars2
|
APN |
1 |
185,034,972 (GRCm39) |
nonsense |
probably null |
|
|
IGL02016:Iars2
|
APN |
1 |
185,035,503 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02995:Iars2
|
APN |
1 |
185,035,498 (GRCm39) |
missense |
probably benign |
|
|
IGL03002:Iars2
|
APN |
1 |
185,055,013 (GRCm39) |
splice site |
probably null |
|
|
IGL03248:Iars2
|
APN |
1 |
185,023,629 (GRCm39) |
unclassified |
probably benign |
|
|
R0304:Iars2
|
UTSW |
1 |
185,019,353 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0711:Iars2
|
UTSW |
1 |
185,054,585 (GRCm39) |
splice site |
probably benign |
|
|
R0783:Iars2
|
UTSW |
1 |
185,053,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0990:Iars2
|
UTSW |
1 |
185,050,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Iars2
|
UTSW |
1 |
185,050,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1868:Iars2
|
UTSW |
1 |
185,050,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1957:Iars2
|
UTSW |
1 |
185,027,868 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2378:Iars2
|
UTSW |
1 |
185,059,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3784:Iars2
|
UTSW |
1 |
185,019,328 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4061:Iars2
|
UTSW |
1 |
185,035,583 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4334:Iars2
|
UTSW |
1 |
185,035,591 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4708:Iars2
|
UTSW |
1 |
185,021,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4723:Iars2
|
UTSW |
1 |
185,048,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Iars2
|
UTSW |
1 |
185,048,248 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4851:Iars2
|
UTSW |
1 |
185,059,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5033:Iars2
|
UTSW |
1 |
185,050,125 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5215:Iars2
|
UTSW |
1 |
185,026,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5260:Iars2
|
UTSW |
1 |
185,055,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5614:Iars2
|
UTSW |
1 |
185,021,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6659:Iars2
|
UTSW |
1 |
185,020,273 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6838:Iars2
|
UTSW |
1 |
185,061,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7057:Iars2
|
UTSW |
1 |
185,021,564 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7462:Iars2
|
UTSW |
1 |
185,055,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Iars2
|
UTSW |
1 |
185,053,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Iars2
|
UTSW |
1 |
185,054,654 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8097:Iars2
|
UTSW |
1 |
185,061,586 (GRCm39) |
unclassified |
probably benign |
|
|
R8198:Iars2
|
UTSW |
1 |
185,029,703 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8283:Iars2
|
UTSW |
1 |
185,020,288 (GRCm39) |
nonsense |
probably null |
|
|
R8543:Iars2
|
UTSW |
1 |
185,019,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8710:Iars2
|
UTSW |
1 |
185,027,783 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8713:Iars2
|
UTSW |
1 |
185,023,615 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8856:Iars2
|
UTSW |
1 |
185,028,621 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9206:Iars2
|
UTSW |
1 |
185,050,146 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9304:Iars2
|
UTSW |
1 |
185,055,400 (GRCm39) |
nonsense |
probably null |
|
|
R9435:Iars2
|
UTSW |
1 |
185,034,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9634:Iars2
|
UTSW |
1 |
185,027,727 (GRCm39) |
makesense |
probably null |
|
|
Z1177:Iars2
|
UTSW |
1 |
185,048,092 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATCGTAACTCCATGACGTCATC -3'
(R):5'- AATCCCAGCCTCAGTACTGC -3'
Sequencing Primer
(F):5'- TGACGTCATCAAAACTGAGCTC -3'
(R):5'- CCATGGAGGAGTGCTACTTAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation