Incidental Mutation 'IGL01341:Kars1'
| ID |
74852 |
| 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 # |
IGL01341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
112720075-112737955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112721606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 556
(I556V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034426]
[ENSMUST00000034427]
[ENSMUST00000093120]
[ENSMUST00000120457]
[ENSMUST00000139820]
[ENSMUST00000164470]
|
| AlphaFold |
Q99MN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034426
AA Change: I527V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
AA Change: I527V
| 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: ENSMUST00000034427
|
| SMART Domains |
Protein: ENSMUSP00000034427
Gene: ENSMUSG00000031949
| Domain | Start | End | E-Value | Type |
|---|
|
ADEAMc
|
2 |
499 |
4.19e-176 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093120
AA Change: I556V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948
AA Change: I556V
| 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: ENSMUST00000120457
|
| SMART Domains |
Protein: ENSMUSP00000113201
Gene: ENSMUSG00000031949
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deamin
|
63 |
354 |
8.1e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139820
|
| SMART Domains |
Protein: ENSMUSP00000117279
Gene: ENSMUSG00000031949
| Domain | Start | End | E-Value | Type |
|---|
|
ADEAMc
|
2 |
453 |
1e-141 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164470
AA Change: I556V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948
AA Change: I556V
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,067 (GRCm39) |
H3450Q |
probably benign |
Het |
| Arcn1 |
A |
G |
9: 44,668,489 (GRCm39) |
I249T |
possibly damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,260,925 (GRCm39) |
R1450H |
probably damaging |
Het |
| Cdh26 |
A |
T |
2: 178,099,240 (GRCm39) |
D113V |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,047,189 (GRCm39) |
V141A |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,946,813 (GRCm39) |
D269N |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,261 (GRCm39) |
I492T |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,635,701 (GRCm39) |
S489G |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,107,562 (GRCm39) |
D46G |
probably damaging |
Het |
| Gm7094 |
A |
G |
1: 21,343,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
C |
3: 63,922,861 (GRCm39) |
I608T |
probably damaging |
Het |
| Gzma |
A |
G |
13: 113,230,418 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,601,978 (GRCm39) |
V280E |
probably damaging |
Het |
| Jak1 |
C |
T |
4: 101,032,290 (GRCm39) |
G439S |
probably damaging |
Het |
| Kifc2 |
T |
C |
15: 76,547,098 (GRCm39) |
|
probably null |
Het |
| Kit |
T |
C |
5: 75,767,734 (GRCm39) |
I39T |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,975,371 (GRCm39) |
R702L |
possibly damaging |
Het |
| Marveld3 |
T |
A |
8: 110,675,049 (GRCm39) |
T256S |
possibly damaging |
Het |
| Nkd1 |
G |
A |
8: 89,318,180 (GRCm39) |
|
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,643 (GRCm39) |
I33L |
probably benign |
Het |
| Or6c212 |
G |
A |
10: 129,558,747 (GRCm39) |
T222I |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,779,127 (GRCm39) |
S167G |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,368,277 (GRCm39) |
D258E |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,173,691 (GRCm39) |
C393* |
probably null |
Het |
| Pxdn |
T |
C |
12: 30,052,486 (GRCm39) |
S888P |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Reln |
T |
A |
5: 22,174,077 (GRCm39) |
I2009F |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,427,653 (GRCm39) |
S627P |
probably benign |
Het |
| Slc2a8 |
T |
A |
2: 32,866,003 (GRCm39) |
Q39L |
probably damaging |
Het |
| Tmem143 |
T |
C |
7: 45,565,558 (GRCm39) |
Y340H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,560,663 (GRCm39) |
V29246A |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,336,427 (GRCm39) |
D1654G |
probably damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,811,294 (GRCm39) |
L484R |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,842,632 (GRCm39) |
V367A |
probably benign |
Het |
|
| Other mutations in Kars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02005:Kars1
|
APN |
8 |
112,726,736 (GRCm39) |
nonsense |
probably null |
|
|
IGL02439:Kars1
|
APN |
8 |
112,724,268 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
2013-10-07 |
Incidental Mutation