Incidental Mutation 'R8139:Vars1'
ID |
632443 |
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 |
067567-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R8139 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35230480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 521
(V521A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133994
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087315]
[ENSMUST00000173584]
|
AlphaFold |
Q9Z1Q9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087315
AA Change: V521A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000084572 Gene: ENSMUSG00000007029 AA Change: V521A
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: 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 |
probably benign
Transcript: ENSMUST00000173584
AA Change: V521A
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000133994 Gene: ENSMUSG00000007029 AA Change: V521A
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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.2%
|
Validation Efficiency |
100% (84/84) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
G |
T |
X: 69,438,120 (GRCm39) |
Q58K |
possibly damaging |
Het |
Aamdc |
T |
C |
7: 97,214,450 (GRCm39) |
M42V |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,074,959 (GRCm39) |
Q1368L |
probably damaging |
Het |
Best3 |
G |
A |
10: 116,840,331 (GRCm39) |
G254R |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,602,697 (GRCm39) |
I1478N |
probably damaging |
Het |
Ccdc113 |
T |
A |
8: 96,285,366 (GRCm39) |
M350K |
possibly damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,896,884 (GRCm39) |
H389L |
probably damaging |
Het |
Cnn3 |
G |
T |
3: 121,248,718 (GRCm39) |
M208I |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,890,698 (GRCm39) |
D345G |
unknown |
Het |
Degs1l |
A |
G |
1: 180,882,358 (GRCm39) |
D40G |
probably damaging |
Het |
Dnah14 |
G |
T |
1: 181,582,853 (GRCm39) |
V3131F |
probably damaging |
Het |
Dst |
T |
A |
1: 34,230,933 (GRCm39) |
M2842K |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,074,058 (GRCm39) |
Q211* |
probably null |
Het |
Eftud2 |
A |
G |
11: 102,758,685 (GRCm39) |
F171S |
probably benign |
Het |
Elac2 |
T |
C |
11: 64,871,440 (GRCm39) |
I117T |
probably benign |
Het |
Fam13b |
A |
G |
18: 34,606,686 (GRCm39) |
C302R |
possibly damaging |
Het |
Fbxl5 |
G |
A |
5: 43,916,087 (GRCm39) |
Q442* |
probably null |
Het |
Fhdc1 |
A |
G |
3: 84,358,790 (GRCm39) |
S370P |
probably damaging |
Het |
Gtf3c6 |
T |
C |
10: 40,133,469 (GRCm39) |
|
probably null |
Het |
I830077J02Rik |
A |
G |
3: 105,835,314 (GRCm39) |
V21A |
probably benign |
Het |
Inf2 |
G |
T |
12: 112,568,074 (GRCm39) |
E209* |
probably null |
Het |
Irag1 |
A |
G |
7: 110,498,879 (GRCm39) |
|
probably null |
Het |
Irs1 |
A |
T |
1: 82,267,460 (GRCm39) |
M252K |
probably damaging |
Het |
Kcng3 |
C |
A |
17: 83,938,516 (GRCm39) |
V178L |
probably damaging |
Het |
Kif16b |
A |
C |
2: 142,743,285 (GRCm39) |
S3A |
probably benign |
Het |
Kit |
T |
C |
5: 75,813,465 (GRCm39) |
M884T |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,730,587 (GRCm39) |
|
probably benign |
Het |
Kptn |
T |
C |
7: 15,857,901 (GRCm39) |
I243T |
probably benign |
Het |
Loxhd1 |
G |
A |
18: 77,468,192 (GRCm39) |
E947K |
possibly damaging |
Het |
Lyl1 |
A |
T |
8: 85,429,476 (GRCm39) |
I62L |
probably damaging |
Het |
Mmp24 |
C |
T |
2: 155,655,965 (GRCm39) |
R468* |
probably null |
Het |
Mtx2 |
G |
A |
2: 74,706,714 (GRCm39) |
D230N |
probably benign |
Het |
Ndufa5 |
A |
T |
6: 24,522,757 (GRCm39) |
Y28* |
probably null |
Het |
Notch4 |
G |
T |
17: 34,803,774 (GRCm39) |
E1515* |
probably null |
Het |
Nrxn3 |
A |
G |
12: 90,171,438 (GRCm39) |
N923S |
probably benign |
Het |
Ogfod2 |
C |
T |
5: 124,251,538 (GRCm39) |
T116M |
possibly damaging |
Het |
Oosp1 |
T |
C |
19: 11,645,118 (GRCm39) |
E182G |
possibly damaging |
Het |
Or4c115 |
A |
G |
2: 88,928,187 (GRCm39) |
V28A |
probably benign |
Het |
Or5p67 |
T |
A |
7: 107,922,113 (GRCm39) |
T257S |
probably benign |
Het |
Or7g20 |
A |
T |
9: 18,946,871 (GRCm39) |
I151F |
probably benign |
Het |
Or7g28 |
A |
C |
9: 19,272,504 (GRCm39) |
V49G |
probably damaging |
Het |
Oxnad1 |
C |
A |
14: 31,814,048 (GRCm39) |
T47K |
possibly damaging |
Het |
Pcdha5 |
A |
G |
18: 37,095,791 (GRCm39) |
M767V |
possibly damaging |
Het |
Pcnx3 |
A |
T |
19: 5,715,773 (GRCm39) |
H1444Q |
probably benign |
Het |
Pde4dip |
G |
T |
3: 97,604,309 (GRCm39) |
Q2224K |
probably benign |
Het |
Pgr |
A |
T |
9: 8,956,341 (GRCm39) |
H763L |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,058,510 (GRCm39) |
D3809G |
probably damaging |
Het |
Ppfia1 |
A |
G |
7: 144,074,430 (GRCm39) |
S155P |
probably damaging |
Het |
Ppfia4 |
A |
G |
1: 134,228,266 (GRCm39) |
V1090A |
probably benign |
Het |
Ptgdr |
T |
C |
14: 45,096,142 (GRCm39) |
E190G |
probably benign |
Het |
Rhbdd2 |
T |
A |
5: 135,665,189 (GRCm39) |
C173* |
probably null |
Het |
Rhobtb1 |
C |
A |
10: 69,102,120 (GRCm39) |
P134T |
probably damaging |
Het |
Slc25a36 |
A |
T |
9: 96,962,505 (GRCm39) |
F161L |
probably benign |
Het |
Slc5a11 |
A |
G |
7: 122,869,199 (GRCm39) |
T596A |
probably benign |
Het |
Slco1a6 |
T |
C |
6: 142,035,626 (GRCm39) |
Y566C |
probably damaging |
Het |
Snx15 |
T |
G |
19: 6,169,945 (GRCm39) |
K321T |
probably damaging |
Het |
Snx15 |
T |
C |
19: 6,169,946 (GRCm39) |
K321E |
probably damaging |
Het |
Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
Syt8 |
T |
C |
7: 141,992,005 (GRCm39) |
I32T |
probably benign |
Het |
Thumpd1 |
T |
C |
7: 119,319,808 (GRCm39) |
N53D |
possibly damaging |
Het |
Timm21 |
T |
C |
18: 84,969,263 (GRCm39) |
T54A |
probably benign |
Het |
Tmed10 |
A |
G |
12: 85,391,091 (GRCm39) |
V149A |
probably damaging |
Het |
Tmem108 |
T |
A |
9: 103,377,084 (GRCm39) |
M122L |
probably benign |
Het |
Tram1l1 |
A |
G |
3: 124,115,436 (GRCm39) |
I199V |
probably benign |
Het |
Tspan8 |
A |
G |
10: 115,675,802 (GRCm39) |
N156S |
probably benign |
Het |
Vamp9 |
A |
G |
5: 100,072,785 (GRCm39) |
I111V |
probably benign |
Het |
Vmn2r54 |
G |
T |
7: 12,349,743 (GRCm39) |
T613N |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,607,418 (GRCm39) |
L1117* |
probably null |
Het |
Vps33a |
T |
C |
5: 123,672,015 (GRCm39) |
K451R |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,113,153 (GRCm39) |
I35T |
probably benign |
Het |
Xpnpep3 |
T |
A |
15: 81,332,660 (GRCm39) |
L399Q |
probably damaging |
Het |
Zfp438 |
T |
C |
18: 5,214,013 (GRCm39) |
E315G |
probably benign |
Het |
Zfp467 |
C |
T |
6: 48,416,268 (GRCm39) |
G128D |
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 |
|
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 |
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'- CATTGAGGTGTGTCTCTGCC -3'
(R):5'- AGGACACAGGCACGAATGTC -3'
Sequencing Primer
(F):5'- AGGTGTGTCTCTGCCCACAG -3'
(R):5'- CACCTGGTATCTGGGATCCTTG -3'
|
Posted On |
2020-06-30 |