Incidental Mutation 'R5716:Kars1'
| ID |
451181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kars1
|
| Ensembl Gene |
ENSMUSG00000031948 |
| Gene Name |
lysyl-tRNA synthetase 1 |
| Synonyms |
D8Ertd698e, LysRS, Kars, D8Wsu108e |
| MMRRC Submission |
043187-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5716 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
112720075-112737955 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 112730074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
| 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
|
| SMART Domains |
Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948
| 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
|
| SMART Domains |
Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
C |
11: 58,312,594 (GRCm39) |
V24A |
possibly damaging |
Het |
| Abca14 |
G |
A |
7: 119,846,217 (GRCm39) |
|
probably null |
Het |
| Acad12 |
A |
G |
5: 121,748,046 (GRCm39) |
V124A |
probably benign |
Het |
| Alg1 |
A |
T |
16: 5,057,820 (GRCm39) |
D238V |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,306,564 (GRCm39) |
E179G |
probably damaging |
Het |
| Brf2 |
A |
G |
8: 27,616,074 (GRCm39) |
S104P |
probably benign |
Het |
| Coq8a |
A |
T |
1: 180,006,825 (GRCm39) |
Y21N |
possibly damaging |
Het |
| Cramp1 |
A |
G |
17: 25,193,709 (GRCm39) |
F924L |
probably damaging |
Het |
| Dpyd |
G |
T |
3: 118,692,828 (GRCm39) |
C324F |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 101,990,494 (GRCm39) |
Y33H |
probably benign |
Het |
| Fry |
C |
T |
5: 150,293,686 (GRCm39) |
Q460* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,257,808 (GRCm39) |
I665V |
probably benign |
Het |
| Gpank1 |
A |
G |
17: 35,342,229 (GRCm39) |
K90E |
probably damaging |
Het |
| Hexd |
A |
G |
11: 121,112,388 (GRCm39) |
I482V |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,226,579 (GRCm39) |
E185K |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,348,750 (GRCm39) |
E4922G |
possibly damaging |
Het |
| Ino80d |
A |
T |
1: 63,097,856 (GRCm39) |
D679E |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,807,546 (GRCm39) |
C2608S |
probably benign |
Het |
| Lcn2 |
A |
G |
2: 32,275,825 (GRCm39) |
V211A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,230,692 (GRCm39) |
V70E |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,208,798 (GRCm39) |
|
probably null |
Het |
| Megf11 |
T |
C |
9: 64,413,392 (GRCm39) |
F60L |
possibly damaging |
Het |
| Muc21 |
A |
C |
17: 35,931,675 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,100,596 (GRCm39) |
H4438L |
probably benign |
Het |
| Nuf2 |
C |
A |
1: 169,349,958 (GRCm39) |
V107F |
probably benign |
Het |
| Or14j6 |
A |
T |
17: 38,214,719 (GRCm39) |
Y94F |
probably benign |
Het |
| Or6c8 |
T |
A |
10: 128,915,424 (GRCm39) |
N136I |
probably benign |
Het |
| Or9i2 |
C |
T |
19: 13,816,003 (GRCm39) |
C178Y |
probably damaging |
Het |
| Pabpn1l |
A |
G |
8: 123,347,160 (GRCm39) |
V215A |
probably damaging |
Het |
| Pnn |
A |
G |
12: 59,118,658 (GRCm39) |
I414V |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,255,638 (GRCm39) |
Y539H |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,638,828 (GRCm39) |
V13A |
probably benign |
Het |
| Sephs1 |
T |
C |
2: 4,889,389 (GRCm39) |
F56L |
probably benign |
Het |
| Sh3rf3 |
C |
T |
10: 58,967,105 (GRCm39) |
P816S |
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,568,844 (GRCm39) |
L291P |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,343,147 (GRCm39) |
I1157L |
probably benign |
Het |
| Tmem184c |
T |
C |
8: 78,333,036 (GRCm39) |
H85R |
possibly damaging |
Het |
| Tmem94 |
T |
C |
11: 115,683,254 (GRCm39) |
V679A |
probably benign |
Het |
| Tpcn2 |
A |
C |
7: 144,811,550 (GRCm39) |
F566V |
possibly damaging |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,473 (GRCm39) |
N298D |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTACCTGCCACTTTGAG -3'
(R):5'- ACGATCTGCAGAGATGACGG -3'
Sequencing Primer
(F):5'- CTGCCACTTTGAGGGTGACATC -3'
(R):5'- TGACGGTCATAAACCTCTGAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation