Incidental Mutation 'R9695:Vars1'
| ID |
729250 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R9695 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35231564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 696
(D696G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000087315]
[ENSMUST00000172499]
[ENSMUST00000173584]
|
| AlphaFold |
Q9Z1Q9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007245
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
VWA
|
314 |
499 |
2.59e0 |
SMART |
|
low complexity region
|
683 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
861 |
N/A |
INTRINSIC |
|
low complexity region
|
864 |
877 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087315
AA Change: D696G
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
AA Change: D696G
| 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 |
probably benign
Transcript: ENSMUST00000172499
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
VWA
|
314 |
478 |
7.28e0 |
SMART |
|
low complexity region
|
662 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
840 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
856 |
N/A |
INTRINSIC |
|
| 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 |
possibly damaging
Transcript: ENSMUST00000173584
AA Change: D696G
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: D696G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
C |
19: 57,170,739 (GRCm39) |
T1A |
|
Het |
| Adgrl1 |
G |
A |
8: 84,665,060 (GRCm39) |
R1249Q |
probably damaging |
Het |
| Apeh |
G |
A |
9: 107,963,483 (GRCm39) |
R580C |
probably damaging |
Het |
| Armc12 |
T |
A |
17: 28,749,993 (GRCm39) |
C46S |
probably benign |
Het |
| Avpr1a |
C |
T |
10: 122,284,845 (GRCm39) |
R46C |
probably damaging |
Het |
| Cbln4 |
C |
G |
2: 171,879,469 (GRCm39) |
G140R |
probably damaging |
Het |
| Ccdc89 |
A |
G |
7: 90,076,552 (GRCm39) |
N254S |
probably benign |
Het |
| Cd96 |
T |
A |
16: 45,919,410 (GRCm39) |
I204F |
probably damaging |
Het |
| Cel |
G |
T |
2: 28,450,961 (GRCm39) |
L101I |
probably damaging |
Het |
| Crtap |
A |
T |
9: 114,215,378 (GRCm39) |
Y170* |
probably null |
Het |
| Ctxn3 |
A |
G |
18: 57,610,185 (GRCm39) |
M1V |
probably null |
Het |
| Cwf19l1 |
G |
T |
19: 44,101,425 (GRCm39) |
H478N |
probably damaging |
Het |
| Dpysl3 |
A |
T |
18: 43,571,192 (GRCm39) |
D27E |
probably damaging |
Het |
| Dsg1b |
A |
G |
18: 20,532,389 (GRCm39) |
T478A |
probably damaging |
Het |
| Dvl2 |
G |
A |
11: 69,899,976 (GRCm39) |
R590Q |
possibly damaging |
Het |
| Elovl7 |
C |
A |
13: 108,416,242 (GRCm39) |
Q211K |
probably damaging |
Het |
| Fech |
A |
G |
18: 64,600,803 (GRCm39) |
I233T |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,806,226 (GRCm39) |
Q848H |
probably benign |
Het |
| Gna15 |
A |
G |
10: 81,359,752 (GRCm39) |
C13R |
probably damaging |
Het |
| Gstt4 |
A |
T |
10: 75,657,072 (GRCm39) |
S65T |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,438,624 (GRCm39) |
V1353A |
probably damaging |
Het |
| Hip1r |
A |
T |
5: 124,139,916 (GRCm39) |
K1006N |
possibly damaging |
Het |
| Hspg2 |
T |
A |
4: 137,265,701 (GRCm39) |
V1804E |
probably damaging |
Het |
| Ifi206 |
T |
C |
1: 173,301,249 (GRCm39) |
T810A |
unknown |
Het |
| Ighv1-69 |
T |
C |
12: 115,586,987 (GRCm39) |
T49A |
probably benign |
Het |
| Il4i1 |
A |
T |
7: 44,489,033 (GRCm39) |
D266V |
probably damaging |
Het |
| Itga3 |
A |
T |
11: 94,946,520 (GRCm39) |
|
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,378,311 (GRCm39) |
N1279S |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,992,929 (GRCm39) |
T997A |
probably benign |
Het |
| Mal |
C |
T |
2: 127,482,308 (GRCm39) |
V32I |
probably benign |
Het |
| Map9 |
T |
A |
3: 82,284,292 (GRCm39) |
S289T |
probably benign |
Het |
| Mmp15 |
G |
T |
8: 96,097,414 (GRCm39) |
R461L |
possibly damaging |
Het |
| Nelfcd |
T |
A |
2: 174,266,923 (GRCm39) |
I395N |
probably benign |
Het |
| Neurog2 |
T |
A |
3: 127,427,694 (GRCm39) |
V106E |
probably damaging |
Het |
| Nup160 |
T |
A |
2: 90,538,486 (GRCm39) |
N761K |
probably damaging |
Het |
| Oasl1 |
G |
A |
5: 115,074,054 (GRCm39) |
R321Q |
probably damaging |
Het |
| Oosp2 |
T |
C |
19: 11,628,994 (GRCm39) |
T36A |
|
Het |
| Or2a52 |
A |
T |
6: 43,144,510 (GRCm39) |
I173L |
probably benign |
Het |
| Or7g22 |
A |
G |
9: 19,049,171 (GRCm39) |
N294S |
probably damaging |
Het |
| Or8k30 |
T |
C |
2: 86,339,100 (GRCm39) |
V99A |
probably benign |
Het |
| Or9s27 |
A |
G |
1: 92,516,595 (GRCm39) |
D181G |
probably benign |
Het |
| Otx2 |
T |
G |
14: 48,899,952 (GRCm39) |
S16R |
probably damaging |
Het |
| Phactr2 |
A |
G |
10: 13,349,908 (GRCm39) |
S39P |
unknown |
Het |
| Piwil2 |
A |
G |
14: 70,627,349 (GRCm39) |
Y797H |
possibly damaging |
Het |
| Plxna4 |
T |
G |
6: 32,183,056 (GRCm39) |
Y949S |
probably benign |
Het |
| Prss35 |
A |
G |
9: 86,637,761 (GRCm39) |
Y177C |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,335,986 (GRCm39) |
I934T |
probably damaging |
Het |
| Rictor |
T |
G |
15: 6,816,010 (GRCm39) |
V1094G |
probably benign |
Het |
| Riok1 |
A |
G |
13: 38,242,676 (GRCm39) |
T467A |
possibly damaging |
Het |
| Slc15a4 |
G |
A |
5: 127,694,400 (GRCm39) |
R12W |
possibly damaging |
Het |
| Slc44a5 |
T |
A |
3: 153,956,588 (GRCm39) |
I280K |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,368,026 (GRCm39) |
L205S |
probably benign |
Het |
| Slco2a1 |
A |
G |
9: 102,962,139 (GRCm39) |
R604G |
possibly damaging |
Het |
| Slmap |
T |
A |
14: 26,183,496 (GRCm39) |
T296S |
probably damaging |
Het |
| Snrk |
T |
C |
9: 121,995,640 (GRCm39) |
V473A |
probably benign |
Het |
| Spart |
A |
G |
3: 55,033,955 (GRCm39) |
T394A |
probably benign |
Het |
| Stil |
T |
C |
4: 114,881,378 (GRCm39) |
S641P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,268,461 (GRCm39) |
V2076A |
probably benign |
Het |
| Tcirg1 |
G |
A |
19: 3,952,360 (GRCm39) |
A336V |
probably null |
Het |
| Tespa1 |
T |
C |
10: 130,198,285 (GRCm39) |
S436P |
probably benign |
Het |
| Thumpd3 |
G |
T |
6: 113,024,622 (GRCm39) |
R72L |
possibly damaging |
Het |
| Tmem70 |
A |
C |
1: 16,735,659 (GRCm39) |
E43A |
probably benign |
Het |
| Vwa5b2 |
A |
T |
16: 20,422,975 (GRCm39) |
H991L |
probably benign |
Het |
| Zfp160 |
A |
G |
17: 21,245,746 (GRCm39) |
K99E |
possibly damaging |
Het |
| Zfp759 |
G |
A |
13: 67,287,198 (GRCm39) |
V250I |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 127,016,340 (GRCm39) |
V707A |
probably benign |
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 |
35,229,595 (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 |
|
|
Z1177:Vars1
|
UTSW |
17 |
35,230,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCAAGTGAGACTGGGGC -3'
(R):5'- GCCAGGAAACAGCTAGCTATAG -3'
Sequencing Primer
(F):5'- TGAGACTGGGGCAGGCG -3'
(R):5'- TACTGCCGGGTCATGGAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation