Incidental Mutation 'R5882:Kars1'
| ID |
454475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kars1
|
| Ensembl Gene |
ENSMUSG00000031948 |
| Gene Name |
lysyl-tRNA synthetase 1 |
| Synonyms |
D8Ertd698e, LysRS, Kars, D8Wsu108e |
| MMRRC Submission |
043236-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5882 (G1)
|
| Quality Score |
184 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
112720075-112737955 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 112730057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 107
(R107*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034426]
[ENSMUST00000093120]
[ENSMUST00000164470]
[ENSMUST00000211990]
|
| AlphaFold |
Q99MN1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034426
AA Change: R78*
|
| SMART Domains |
Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
AA Change: R78*
| 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 null
Transcript: ENSMUST00000093120
AA Change: R107*
|
| SMART Domains |
Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948
AA Change: R107*
| 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 null
Transcript: ENSMUST00000164470
AA Change: R107*
|
| SMART Domains |
Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948
AA Change: R107*
| 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 |
probably benign
Transcript: ENSMUST00000211990
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212693
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.5%
- 20x: 86.5%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
T |
A |
15: 77,602,447 (GRCm39) |
H348Q |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,350,645 (GRCm39) |
E400V |
probably damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,839 (GRCm39) |
K176N |
probably benign |
Het |
| Dcaf4 |
T |
C |
12: 83,586,203 (GRCm39) |
V377A |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,851,675 (GRCm39) |
L71P |
probably damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,777,498 (GRCm39) |
R117S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,903,453 (GRCm39) |
V382A |
probably benign |
Het |
| Kif16b |
C |
T |
2: 142,549,178 (GRCm39) |
|
probably null |
Het |
| Lrrc69 |
A |
G |
4: 14,708,690 (GRCm39) |
F218S |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,760,422 (GRCm39) |
Y1158C |
probably damaging |
Het |
| Myom1 |
G |
C |
17: 71,417,717 (GRCm39) |
A1307P |
probably damaging |
Het |
| Nacad |
C |
T |
11: 6,548,568 (GRCm39) |
V1389I |
possibly damaging |
Het |
| Nit2 |
T |
C |
16: 56,979,829 (GRCm39) |
D132G |
probably benign |
Het |
| Nln |
G |
T |
13: 104,196,006 (GRCm39) |
D60E |
probably benign |
Het |
| Oas1f |
G |
A |
5: 120,986,316 (GRCm39) |
E90K |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,893 (GRCm39) |
V82A |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,484 (GRCm39) |
V76E |
probably damaging |
Het |
| Or8b12 |
C |
T |
9: 37,657,928 (GRCm39) |
T166I |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,230 (GRCm39) |
Q727L |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 42,863,327 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
T |
19: 31,563,097 (GRCm39) |
N116K |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,366,581 (GRCm39) |
S593C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,494 (GRCm39) |
N85S |
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,596,965 (GRCm39) |
T93A |
probably benign |
Het |
| St7 |
T |
C |
6: 17,846,248 (GRCm39) |
L121P |
probably damaging |
Het |
| Stoml2 |
G |
C |
4: 43,031,003 (GRCm39) |
R57G |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,837,371 (GRCm39) |
R532C |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,254,142 (GRCm39) |
N660S |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,339,731 (GRCm39) |
H233R |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,269,777 (GRCm39) |
V304A |
possibly damaging |
Het |
| Ush1g |
C |
A |
11: 115,209,368 (GRCm39) |
M275I |
probably damaging |
Het |
| Zfp882 |
A |
T |
8: 72,667,303 (GRCm39) |
|
probably null |
Het |
| Zim1 |
A |
T |
7: 6,685,737 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAGGCGAGTGAACTGTC -3'
(R):5'- TGACGGTCATAAACCTCTGAAG -3'
Sequencing Primer
(F):5'- AACTGTCAGGGACCTGCCTAC -3'
(R):5'- ACAAGCCACTGTGCTGTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation