Incidental Mutation 'R0557:Vars1'
| ID |
45678 |
| 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 |
038749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R0557 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35223960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 264
(P264Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087315]
[ENSMUST00000172570]
[ENSMUST00000173584]
[ENSMUST00000174260]
|
| AlphaFold |
Q9Z1Q9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087315
AA Change: P264Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
AA Change: P264Q
| 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: ENSMUST00000172570
|
| SMART Domains |
Protein: ENSMUSP00000134245
Gene: ENSMUSG00000007029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_C
|
2 |
76 |
1.2e-13 |
PFAM |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172741
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173584
AA Change: P264Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: P264Q
| 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 |
probably benign
Transcript: ENSMUST00000174260
|
| SMART Domains |
Protein: ENSMUSP00000134313
Gene: ENSMUSG00000007029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
2 |
81 |
2.2e-16 |
PFAM |
|
Pfam:GST_C
|
96 |
198 |
2.1e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,903,519 (GRCm39) |
H266Y |
probably damaging |
Het |
| Abi3bp |
C |
T |
16: 56,488,750 (GRCm39) |
R1294C |
probably damaging |
Het |
| Acot3 |
T |
C |
12: 84,105,630 (GRCm39) |
Y366H |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,353,817 (GRCm39) |
V254A |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,308 (GRCm39) |
D197E |
probably benign |
Het |
| Aldh1b1 |
A |
T |
4: 45,802,647 (GRCm39) |
T62S |
probably benign |
Het |
| Alox12e |
T |
C |
11: 70,212,274 (GRCm39) |
R135G |
possibly damaging |
Het |
| Amn1 |
T |
C |
6: 149,072,503 (GRCm39) |
Y78C |
possibly damaging |
Het |
| Ankmy2 |
G |
A |
12: 36,237,765 (GRCm39) |
S288N |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,693,297 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
T |
C |
15: 83,187,386 (GRCm39) |
D491G |
probably damaging |
Het |
| Arhgap15 |
T |
C |
2: 44,006,629 (GRCm39) |
S249P |
possibly damaging |
Het |
| Atp9b |
A |
G |
18: 80,809,137 (GRCm39) |
V211A |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,562,751 (GRCm39) |
Y12H |
probably damaging |
Het |
| Cdkn2aip |
T |
C |
8: 48,165,977 (GRCm39) |
T110A |
probably damaging |
Het |
| Cemip2 |
C |
T |
19: 21,789,267 (GRCm39) |
A567V |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,551,569 (GRCm39) |
S31P |
probably damaging |
Het |
| Chrna3 |
A |
G |
9: 54,923,149 (GRCm39) |
Y220H |
probably damaging |
Het |
| Ctu1 |
A |
G |
7: 43,326,583 (GRCm39) |
D414G |
unknown |
Het |
| Cxxc1 |
C |
T |
18: 74,351,845 (GRCm39) |
R241W |
possibly damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,406,398 (GRCm39) |
I18T |
unknown |
Het |
| Dip2c |
A |
T |
13: 9,603,495 (GRCm39) |
I405F |
possibly damaging |
Het |
| Disp3 |
A |
T |
4: 148,325,861 (GRCm39) |
M1299K |
possibly damaging |
Het |
| Dnah9 |
T |
G |
11: 65,975,492 (GRCm39) |
H1519P |
probably damaging |
Het |
| Ehd3 |
C |
A |
17: 74,136,928 (GRCm39) |
Q366K |
probably benign |
Het |
| Exosc3 |
A |
T |
4: 45,316,957 (GRCm39) |
M232K |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,165,216 (GRCm39) |
|
probably null |
Het |
| Fgfr2 |
A |
G |
7: 129,820,811 (GRCm39) |
V241A |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
| Hars2 |
T |
C |
18: 36,924,130 (GRCm39) |
I489T |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,749,310 (GRCm39) |
I1945V |
probably benign |
Het |
| Il33 |
A |
C |
19: 29,932,036 (GRCm39) |
N143T |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,419,321 (GRCm39) |
W313* |
probably null |
Het |
| Insyn2a |
A |
G |
7: 134,520,434 (GRCm39) |
L32P |
probably damaging |
Het |
| Isca1 |
G |
T |
13: 59,904,788 (GRCm39) |
Q91K |
possibly damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,161,323 (GRCm39) |
Y195F |
probably damaging |
Het |
| Lama4 |
T |
G |
10: 38,964,393 (GRCm39) |
I1355S |
probably benign |
Het |
| Lonrf1 |
T |
C |
8: 36,697,574 (GRCm39) |
D470G |
probably benign |
Het |
| Mak |
A |
G |
13: 41,193,135 (GRCm39) |
Y446H |
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,300,990 (GRCm39) |
S1348N |
possibly damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,977,806 (GRCm39) |
Y138C |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,192,624 (GRCm39) |
L1501P |
possibly damaging |
Het |
| Naa35 |
A |
G |
13: 59,775,778 (GRCm39) |
E552G |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,183,369 (GRCm39) |
L200* |
probably null |
Het |
| Nrm |
T |
C |
17: 36,175,524 (GRCm39) |
V210A |
probably damaging |
Het |
| Nt5e |
T |
A |
9: 88,248,519 (GRCm39) |
N405K |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,760 (GRCm39) |
I234N |
possibly damaging |
Het |
| Or1o11 |
T |
A |
17: 37,756,712 (GRCm39) |
I100N |
probably damaging |
Het |
| Orc2 |
T |
C |
1: 58,508,846 (GRCm39) |
S434G |
probably damaging |
Het |
| Plcb4 |
G |
A |
2: 135,796,269 (GRCm39) |
V388I |
probably damaging |
Het |
| Ppm1l |
A |
G |
3: 69,405,234 (GRCm39) |
D177G |
probably benign |
Het |
| Prl8a2 |
A |
T |
13: 27,536,875 (GRCm39) |
R165* |
probably null |
Het |
| Ptbp3 |
G |
A |
4: 59,517,684 (GRCm39) |
R66* |
probably null |
Het |
| Pten |
A |
G |
19: 32,795,290 (GRCm39) |
T286A |
probably benign |
Het |
| Rac2 |
C |
T |
15: 78,449,174 (GRCm39) |
V113M |
probably damaging |
Het |
| Rai1 |
C |
T |
11: 60,081,321 (GRCm39) |
T1795I |
probably benign |
Het |
| Ros1 |
T |
G |
10: 51,961,359 (GRCm39) |
K1792Q |
possibly damaging |
Het |
| Sema6a |
A |
G |
18: 47,382,567 (GRCm39) |
V660A |
probably benign |
Het |
| Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,024,762 (GRCm39) |
S441P |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,163 (GRCm39) |
L462P |
probably damaging |
Het |
| Spag5 |
T |
A |
11: 78,205,037 (GRCm39) |
S607R |
probably damaging |
Het |
| Spata18 |
A |
T |
5: 73,809,013 (GRCm39) |
N29Y |
probably damaging |
Het |
| Spata20 |
C |
T |
11: 94,376,048 (GRCm39) |
R22H |
probably benign |
Het |
| Spsb2 |
A |
C |
6: 124,787,355 (GRCm39) |
Y263S |
probably damaging |
Het |
| Sptbn4 |
C |
A |
7: 27,107,753 (GRCm39) |
E885* |
probably null |
Het |
| Syne2 |
T |
C |
12: 75,976,075 (GRCm39) |
I1175T |
probably benign |
Het |
| Tmem209 |
A |
C |
6: 30,501,913 (GRCm39) |
H253Q |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,702,468 (GRCm39) |
D788E |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,353,848 (GRCm39) |
S1509P |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,584,173 (GRCm39) |
D2661E |
probably damaging |
Het |
| Vmn2r66 |
T |
G |
7: 84,643,972 (GRCm39) |
S813R |
probably damaging |
Het |
| Wipf2 |
C |
A |
11: 98,782,915 (GRCm39) |
Q114K |
possibly damaging |
Het |
| Wnt5b |
G |
T |
6: 119,410,779 (GRCm39) |
H220Q |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,695 (GRCm39) |
T2979A |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,531,708 (GRCm39) |
V408A |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,808,556 (GRCm39) |
S2744P |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCACTCTTCACAGAGAGTCCC -3'
(R):5'- AGCAACAGGCCGTTTGCCATTC -3'
Sequencing Primer
(F):5'- CAGCAACCTTGAGTCTGAATTTCTG -3'
(R):5'- GCCATTCTCCCCACAGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation