Incidental Mutation 'R6073:Vars1'
| ID |
482606 |
| 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 |
044234-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R6073 (G1)
|
| Quality Score |
148.008 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35220505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 29
(D29G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087315]
[ENSMUST00000172570]
[ENSMUST00000173584]
[ENSMUST00000174260]
|
| AlphaFold |
Q9Z1Q9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087315
AA Change: D29G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
AA Change: D29G
| 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 |
probably benign
Transcript: ENSMUST00000173584
AA Change: D29G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: D29G
| 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
AA Change: D29G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134313
Gene: ENSMUSG00000007029
AA Change: D29G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
2 |
81 |
2.2e-16 |
PFAM |
|
Pfam:GST_C
|
96 |
198 |
2.1e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (57/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb2 |
A |
T |
18: 62,312,537 (GRCm39) |
M96K |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,143,668 (GRCm39) |
|
probably null |
Het |
| Bnip5 |
A |
T |
17: 29,123,597 (GRCm39) |
V367D |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,513,223 (GRCm39) |
G183R |
probably null |
Het |
| Cad |
A |
G |
5: 31,219,906 (GRCm39) |
T753A |
possibly damaging |
Het |
| Cc2d2a |
C |
T |
5: 43,887,317 (GRCm39) |
T1249M |
probably damaging |
Het |
| Cd74 |
G |
A |
18: 60,944,558 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
G |
5: 86,206,012 (GRCm39) |
|
probably null |
Het |
| Cenpe |
T |
A |
3: 134,965,834 (GRCm39) |
L2104* |
probably null |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,232 (GRCm39) |
I542T |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,448,368 (GRCm39) |
D97G |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,896,274 (GRCm39) |
D3546G |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,361,881 (GRCm39) |
V214I |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epb41l2 |
T |
G |
10: 25,377,730 (GRCm39) |
H597Q |
probably damaging |
Het |
| Erbin |
G |
A |
13: 103,981,429 (GRCm39) |
Q499* |
probably null |
Het |
| Erc2 |
A |
T |
14: 27,733,593 (GRCm39) |
I556F |
probably benign |
Het |
| Fscn2 |
G |
T |
11: 120,252,613 (GRCm39) |
E27* |
probably null |
Het |
| Fsd1l |
A |
G |
4: 53,679,994 (GRCm39) |
T231A |
probably damaging |
Het |
| G6pc1 |
T |
A |
11: 101,258,802 (GRCm39) |
N60K |
probably benign |
Het |
| Gm43302 |
A |
G |
5: 105,438,825 (GRCm39) |
V21A |
probably damaging |
Het |
| Heatr3 |
G |
T |
8: 88,864,768 (GRCm39) |
A41S |
probably benign |
Het |
| Hrct1 |
T |
C |
4: 43,727,543 (GRCm39) |
|
probably benign |
Het |
| Ihh |
T |
C |
1: 74,990,438 (GRCm39) |
|
probably benign |
Het |
| Jph3 |
A |
T |
8: 122,480,291 (GRCm39) |
Y323F |
probably damaging |
Het |
| Kcnj5 |
T |
C |
9: 32,229,096 (GRCm39) |
D34G |
probably damaging |
Het |
| Magi2 |
G |
A |
5: 20,774,286 (GRCm39) |
E231K |
probably damaging |
Het |
| Muc5b |
A |
C |
7: 141,412,025 (GRCm39) |
Y1657S |
unknown |
Het |
| Muc5b |
G |
A |
7: 141,402,797 (GRCm39) |
C667Y |
unknown |
Het |
| Myo10 |
G |
A |
15: 25,736,728 (GRCm39) |
C459Y |
probably damaging |
Het |
| Nemp1 |
A |
G |
10: 127,525,112 (GRCm39) |
K40E |
probably benign |
Het |
| Nipsnap1 |
T |
C |
11: 4,838,895 (GRCm39) |
F107S |
possibly damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,698,677 (GRCm39) |
|
probably null |
Het |
| Pabpc1 |
A |
G |
15: 36,600,895 (GRCm39) |
I305T |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,145,716 (GRCm39) |
F2736S |
probably damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,109,250 (GRCm39) |
Y450C |
probably null |
Het |
| Polr2g |
A |
T |
19: 8,774,673 (GRCm39) |
V70E |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,838 (GRCm39) |
I202V |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,384,848 (GRCm39) |
|
probably null |
Het |
| Rfxap |
T |
C |
3: 54,714,708 (GRCm39) |
Y130C |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,949,861 (GRCm39) |
E20G |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,871,772 (GRCm39) |
D389G |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,303,101 (GRCm39) |
H496R |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,680,300 (GRCm39) |
V420M |
probably damaging |
Het |
| Spata13 |
C |
T |
14: 60,987,470 (GRCm39) |
T876I |
probably damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,850,808 (GRCm39) |
N440I |
probably damaging |
Het |
| Tdrd1 |
G |
T |
19: 56,831,655 (GRCm39) |
E349* |
probably null |
Het |
| Tie1 |
A |
G |
4: 118,339,587 (GRCm39) |
V398A |
probably benign |
Het |
| Tmem255b |
T |
A |
8: 13,506,958 (GRCm39) |
L229Q |
probably damaging |
Het |
| Tmem59 |
T |
A |
4: 107,050,598 (GRCm39) |
|
probably null |
Het |
| Trim3 |
G |
A |
7: 105,266,746 (GRCm39) |
R479C |
probably damaging |
Het |
| Ucp2 |
G |
A |
7: 100,147,338 (GRCm39) |
V131M |
possibly damaging |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,184 (GRCm39) |
K343R |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,207,019 (GRCm39) |
K1085E |
possibly damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp963 |
A |
T |
8: 70,195,853 (GRCm39) |
C86* |
probably null |
Het |
| Zfp977 |
A |
G |
7: 42,230,165 (GRCm39) |
I120T |
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 |
|
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'- AACGTGCGCTGTCACAAAG -3'
(R):5'- ATAACTGACCCACTGCTGGAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation