Incidental Mutation 'R0045:Vars1'
| ID |
15450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vars1
|
| Ensembl Gene |
ENSMUSG00000007029 |
| Gene Name |
valyl-tRNA synthetase 1 |
| Synonyms |
Bat6, Vars2, G7a, Bat-6, D17H6S56E, Vars |
| MMRRC Submission |
038339-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R0045 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35229595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 404
(H404L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087315]
[ENSMUST00000173584]
|
| AlphaFold |
Q9Z1Q9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087315
AA Change: H404L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
AA Change: H404L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
2 |
81 |
5.7e-16 |
PFAM |
|
Pfam:GST_C
|
107 |
198 |
7.3e-13 |
PFAM |
|
low complexity region
|
234 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
307 |
938 |
2e-197 |
PFAM |
|
Pfam:tRNA-synt_1g
|
336 |
496 |
6e-6 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
555 |
623 |
1.9e-11 |
PFAM |
|
Pfam:Anticodon_1
|
983 |
1138 |
2.6e-34 |
PFAM |
|
low complexity region
|
1153 |
1174 |
N/A |
INTRINSIC |
|
low complexity region
|
1207 |
1225 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172999
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173142
|
| SMART Domains |
Protein: ENSMUSP00000134669
Gene: ENSMUSG00000007029
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gaxa3
|
32 |
67 |
3e-7 |
SMART |
|
PDB:1IYW|B
|
36 |
122 |
4e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173302
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173336
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173584
AA Change: H404L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: H404L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
89 |
N/A |
INTRINSIC |
|
Pfam:GST_C
|
96 |
198 |
7.8e-14 |
PFAM |
|
low complexity region
|
234 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
307 |
938 |
1.9e-200 |
PFAM |
|
Pfam:tRNA-synt_1g
|
336 |
493 |
2.1e-7 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
555 |
623 |
1.1e-12 |
PFAM |
|
Pfam:Anticodon_1
|
983 |
1138 |
7.2e-36 |
PFAM |
|
low complexity region
|
1153 |
1174 |
N/A |
INTRINSIC |
|
coiled coil region
|
1197 |
1225 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173911
|
| Meta Mutation Damage Score |
0.5635 |
| Coding Region Coverage |
- 1x: 81.3%
- 3x: 72.5%
- 10x: 50.2%
- 20x: 29.9%
|
| Validation Efficiency |
92% (56/61) |
| 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. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
C |
7: 76,348,588 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,115,941 (GRCm39) |
D650G |
possibly damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,235,998 (GRCm39) |
S791G |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,594,498 (GRCm39) |
R1198* |
probably null |
Het |
| Atf2 |
G |
T |
2: 73,660,200 (GRCm39) |
T189N |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,536,814 (GRCm39) |
K16E |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,684,012 (GRCm39) |
K368E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,366,757 (GRCm39) |
Y241C |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,103 (GRCm39) |
S940N |
probably benign |
Het |
| Cds2 |
G |
T |
2: 132,147,075 (GRCm39) |
G402V |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,900,171 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
C |
3: 106,478,133 (GRCm39) |
V155A |
possibly damaging |
Het |
| Exoc3l |
C |
T |
8: 106,020,317 (GRCm39) |
V203M |
probably damaging |
Het |
| Fsip1 |
C |
A |
2: 118,078,773 (GRCm39) |
|
probably null |
Het |
| Htra1 |
T |
A |
7: 130,563,262 (GRCm39) |
S164R |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,555,152 (GRCm39) |
D677V |
probably damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,710 (GRCm39) |
S133P |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,786,803 (GRCm39) |
Y271C |
probably damaging |
Het |
| Lpcat3 |
T |
C |
6: 124,678,437 (GRCm39) |
I228T |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,612,676 (GRCm39) |
C315S |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,029,122 (GRCm39) |
H398R |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,378,601 (GRCm39) |
T509S |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,622 (GRCm39) |
I1032T |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,286,487 (GRCm39) |
T723I |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,774,518 (GRCm39) |
S189P |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,363,584 (GRCm39) |
D340N |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,618,174 (GRCm39) |
L693* |
probably null |
Het |
|
| Other mutations in Vars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01520:Vars1
|
APN |
17 |
35,232,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02160:Vars1
|
APN |
17 |
35,220,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02303:Vars1
|
APN |
17 |
35,234,460 (GRCm39) |
splice site |
probably benign |
|
|
IGL03027:Vars1
|
APN |
17 |
35,232,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Maladroit
|
UTSW |
17 |
35,224,451 (GRCm39) |
missense |
probably benign |
0.30 |
|
Whoops
|
UTSW |
17 |
35,232,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Vars1
|
UTSW |
17 |
35,234,965 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Vars1
|
UTSW |
17 |
35,234,967 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Vars1
|
UTSW |
17 |
35,234,965 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Vars1
|
UTSW |
17 |
35,234,964 (GRCm39) |
small insertion |
probably benign |
|
|
R0045:Vars1
|
UTSW |
17 |
35,229,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Vars1
|
UTSW |
17 |
35,217,042 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0266:Vars1
|
UTSW |
17 |
35,232,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0267:Vars1
|
UTSW |
17 |
35,230,572 (GRCm39) |
splice site |
probably benign |
|
|
R0391:Vars1
|
UTSW |
17 |
35,230,462 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0445:Vars1
|
UTSW |
17 |
35,230,785 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0449:Vars1
|
UTSW |
17 |
35,231,703 (GRCm39) |
splice site |
probably null |
|
|
R0557:Vars1
|
UTSW |
17 |
35,223,960 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0559:Vars1
|
UTSW |
17 |
35,233,034 (GRCm39) |
nonsense |
probably null |
|
|
R0730:Vars1
|
UTSW |
17 |
35,233,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0748:Vars1
|
UTSW |
17 |
35,216,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Vars1
|
UTSW |
17 |
35,232,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Vars1
|
UTSW |
17 |
35,217,172 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1697:Vars1
|
UTSW |
17 |
35,217,198 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1699:Vars1
|
UTSW |
17 |
35,233,734 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1712:Vars1
|
UTSW |
17 |
35,233,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Vars1
|
UTSW |
17 |
35,230,814 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2349:Vars1
|
UTSW |
17 |
35,234,728 (GRCm39) |
missense |
probably benign |
|
|
R2365:Vars1
|
UTSW |
17 |
35,234,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3790:Vars1
|
UTSW |
17 |
35,218,310 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4615:Vars1
|
UTSW |
17 |
35,232,857 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4844:Vars1
|
UTSW |
17 |
35,230,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Vars1
|
UTSW |
17 |
35,234,702 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4886:Vars1
|
UTSW |
17 |
35,234,702 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5570:Vars1
|
UTSW |
17 |
35,235,214 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5706:Vars1
|
UTSW |
17 |
35,224,457 (GRCm39) |
splice site |
probably null |
|
|
R5858:Vars1
|
UTSW |
17 |
35,224,451 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5907:Vars1
|
UTSW |
17 |
35,231,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5917:Vars1
|
UTSW |
17 |
35,231,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5944:Vars1
|
UTSW |
17 |
35,232,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6023:Vars1
|
UTSW |
17 |
35,220,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Vars1
|
UTSW |
17 |
35,220,505 (GRCm39) |
missense |
probably benign |
|
|
R6273:Vars1
|
UTSW |
17 |
35,232,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6390:Vars1
|
UTSW |
17 |
35,234,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6658:Vars1
|
UTSW |
17 |
35,234,717 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7067:Vars1
|
UTSW |
17 |
35,230,455 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7387:Vars1
|
UTSW |
17 |
35,223,768 (GRCm39) |
nonsense |
probably null |
|
|
R7954:Vars1
|
UTSW |
17 |
35,234,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8139:Vars1
|
UTSW |
17 |
35,230,480 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8347:Vars1
|
UTSW |
17 |
35,234,953 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8387:Vars1
|
UTSW |
17 |
35,229,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8855:Vars1
|
UTSW |
17 |
35,234,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8866:Vars1
|
UTSW |
17 |
35,234,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9131:Vars1
|
UTSW |
17 |
35,223,773 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9620:Vars1
|
UTSW |
17 |
35,235,001 (GRCm39) |
missense |
unknown |
|
|
R9695:Vars1
|
UTSW |
17 |
35,231,564 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1177:Vars1
|
UTSW |
17 |
35,230,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-21 |
Incidental Mutation