Incidental Mutation 'IGL02439:Kars1'
| ID |
293378 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kars1
|
| Ensembl Gene |
ENSMUSG00000031948 |
| Gene Name |
lysyl-tRNA synthetase 1 |
| Synonyms |
D8Ertd698e, LysRS, Kars, D8Wsu108e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02439
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
112720075-112737955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112724268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 453
(T453I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034426]
[ENSMUST00000093120]
[ENSMUST00000164470]
|
| AlphaFold |
Q99MN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034426
AA Change: T453I
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
AA Change: T453I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
14 |
53 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
124 |
204 |
2.8e-15 |
PFAM |
|
Pfam:tRNA-synt_2
|
220 |
573 |
4.9e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093120
AA Change: T482I
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948
AA Change: T482I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
44 |
82 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
153 |
233 |
3.6e-17 |
PFAM |
|
Pfam:tRNA-synt_2
|
249 |
601 |
1.1e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164470
AA Change: T482I
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948
AA Change: T482I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
44 |
82 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
153 |
233 |
1.6e-16 |
PFAM |
|
Pfam:tRNA-synt_2
|
249 |
602 |
1.8e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212693
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
A |
T |
14: 4,348,890 (GRCm38) |
Y17F |
probably benign |
Het |
| Ablim2 |
A |
C |
5: 36,015,206 (GRCm39) |
T507P |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,067,647 (GRCm39) |
Y1426C |
possibly damaging |
Het |
| Cftr |
T |
A |
6: 18,258,237 (GRCm39) |
Y592* |
probably null |
Het |
| Eogt |
C |
T |
6: 97,120,934 (GRCm39) |
G93D |
possibly damaging |
Het |
| Exosc9 |
A |
G |
3: 36,607,180 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,874,582 (GRCm39) |
I1329V |
probably benign |
Het |
| Gal3st1 |
T |
C |
11: 3,948,110 (GRCm39) |
F106L |
possibly damaging |
Het |
| Gulp1 |
A |
T |
1: 44,820,164 (GRCm39) |
I216F |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,455,721 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,417,999 (GRCm39) |
D844G |
probably damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,289,046 (GRCm39) |
C93S |
probably damaging |
Het |
| Lst1 |
T |
C |
17: 35,405,958 (GRCm39) |
I32V |
probably benign |
Het |
| Malsu1 |
T |
A |
6: 49,052,121 (GRCm39) |
Y114N |
probably damaging |
Het |
| Ndufa5 |
A |
T |
6: 24,519,201 (GRCm39) |
V41E |
probably damaging |
Het |
| Nme6 |
C |
A |
9: 109,670,999 (GRCm39) |
P80T |
probably damaging |
Het |
| Odad2 |
T |
A |
18: 7,268,444 (GRCm39) |
R358S |
probably benign |
Het |
| Or5ac20 |
A |
G |
16: 59,104,818 (GRCm39) |
L14P |
probably damaging |
Het |
| Padi4 |
T |
C |
4: 140,473,532 (GRCm39) |
D635G |
probably damaging |
Het |
| Pcf11 |
C |
T |
7: 92,311,049 (GRCm39) |
S313N |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,006,015 (GRCm39) |
H309R |
probably benign |
Het |
| Pdk2 |
A |
T |
11: 94,930,323 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,060,758 (GRCm39) |
S1606G |
possibly damaging |
Het |
| Ptch1 |
A |
G |
13: 63,692,910 (GRCm39) |
I230T |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,447,914 (GRCm39) |
R1381Q |
probably benign |
Het |
| Sestd1 |
T |
C |
2: 77,027,174 (GRCm39) |
K479E |
possibly damaging |
Het |
| Sez6l2 |
C |
T |
7: 126,567,361 (GRCm39) |
S892L |
probably damaging |
Het |
| Slc39a9 |
G |
T |
12: 80,713,350 (GRCm39) |
A83S |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,726,808 (GRCm39) |
Y483C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tas2r131 |
A |
G |
6: 132,934,732 (GRCm39) |
S26P |
probably damaging |
Het |
| Timd2 |
A |
G |
11: 46,569,063 (GRCm39) |
|
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,104,641 (GRCm39) |
E27G |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,022,978 (GRCm39) |
G1256E |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,602,421 (GRCm39) |
I322F |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,504,321 (GRCm39) |
V420M |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,596,431 (GRCm39) |
A20161S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,654,455 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
T |
A |
18: 5,213,216 (GRCm39) |
S581C |
probably damaging |
Het |
|
| Other mutations in Kars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Kars1
|
APN |
8 |
112,721,606 (GRCm39) |
missense |
probably benign |
|
|
IGL02005:Kars1
|
APN |
8 |
112,726,736 (GRCm39) |
nonsense |
probably null |
|
|
IGL03240:Kars1
|
APN |
8 |
112,732,271 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03399:Kars1
|
APN |
8 |
112,734,926 (GRCm39) |
missense |
probably benign |
0.25 |
|
LCD18:Kars1
|
UTSW |
8 |
111,993,708 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R0325:Kars1
|
UTSW |
8 |
112,734,848 (GRCm39) |
missense |
probably benign |
|
|
R0570:Kars1
|
UTSW |
8 |
112,721,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1566:Kars1
|
UTSW |
8 |
112,724,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2023:Kars1
|
UTSW |
8 |
112,728,484 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4690:Kars1
|
UTSW |
8 |
112,729,216 (GRCm39) |
missense |
probably benign |
|
|
R4839:Kars1
|
UTSW |
8 |
112,729,158 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4946:Kars1
|
UTSW |
8 |
112,728,352 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5716:Kars1
|
UTSW |
8 |
112,730,074 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5882:Kars1
|
UTSW |
8 |
112,730,057 (GRCm39) |
nonsense |
probably null |
|
|
R6188:Kars1
|
UTSW |
8 |
112,735,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6212:Kars1
|
UTSW |
8 |
112,726,829 (GRCm39) |
splice site |
probably null |
|
|
R6594:Kars1
|
UTSW |
8 |
112,720,299 (GRCm39) |
unclassified |
probably benign |
|
|
R7528:Kars1
|
UTSW |
8 |
112,737,866 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8225:Kars1
|
UTSW |
8 |
112,729,970 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation