Incidental Mutation 'IGL01520:Vars1'
ID |
90478 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vars1
|
Ensembl Gene |
ENSMUSG00000007029 |
Gene Name |
valyl-tRNA synthetase 1 |
Synonyms |
Bat6, Vars2, G7a, Bat-6, D17H6S56E, Vars |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL01520
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 35232849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 898
(V898L)
|
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 |
probably benign
Transcript: ENSMUST00000087315
AA Change: V898L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000084572 Gene: ENSMUSG00000007029 AA Change: V898L
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 |
noncoding transcript
Transcript: ENSMUST00000172637
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172999
|
Predicted Effect |
unknown
Transcript: ENSMUST00000173142
AA Change: V16L
|
SMART Domains |
Protein: ENSMUSP00000134669 Gene: ENSMUSG00000007029 AA Change: V16L
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 |
probably benign
Transcript: ENSMUST00000173584
AA Change: V898L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133994 Gene: ENSMUSG00000007029 AA Change: V898L
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: ENSMUST00000173911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174084
|
Coding Region Coverage |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
A |
7: 78,734,318 (GRCm39) |
H58Q |
probably damaging |
Het |
Atp6v1c2 |
A |
T |
12: 17,347,754 (GRCm39) |
L149Q |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,027,409 (GRCm39) |
Y2265* |
probably null |
Het |
Cd40lg |
A |
G |
X: 56,265,148 (GRCm39) |
N132D |
probably benign |
Het |
Cemip |
G |
T |
7: 83,597,830 (GRCm39) |
T1060K |
probably benign |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Ces5a |
A |
T |
8: 94,246,206 (GRCm39) |
S328T |
probably benign |
Het |
Cfap70 |
A |
G |
14: 20,470,755 (GRCm39) |
C497R |
probably benign |
Het |
Cndp2 |
T |
C |
18: 84,686,732 (GRCm39) |
K430R |
probably benign |
Het |
Cplane1 |
C |
A |
15: 8,251,395 (GRCm39) |
T1889K |
probably damaging |
Het |
Crlf3 |
T |
C |
11: 79,950,972 (GRCm39) |
D126G |
probably benign |
Het |
Cxcr1 |
A |
T |
1: 74,231,434 (GRCm39) |
L196Q |
probably damaging |
Het |
E330013P04Rik |
A |
G |
19: 60,150,329 (GRCm39) |
|
noncoding transcript |
Het |
Erbb2 |
C |
T |
11: 98,324,835 (GRCm39) |
H810Y |
probably benign |
Het |
Fmn1 |
C |
A |
2: 113,274,713 (GRCm39) |
|
probably benign |
Het |
Fpr3 |
A |
G |
17: 18,191,325 (GRCm39) |
T199A |
possibly damaging |
Het |
Gcsh |
A |
G |
8: 117,710,688 (GRCm39) |
|
probably benign |
Het |
Gm10073 |
T |
A |
8: 107,299,901 (GRCm39) |
I28F |
probably benign |
Het |
Gucy1a2 |
C |
A |
9: 3,759,561 (GRCm39) |
Q456K |
probably damaging |
Het |
Hgs |
C |
A |
11: 120,369,174 (GRCm39) |
P317T |
probably damaging |
Het |
Inmt |
C |
A |
6: 55,148,213 (GRCm39) |
V139F |
probably damaging |
Het |
Kcnma1 |
C |
A |
14: 23,551,211 (GRCm39) |
M460I |
possibly damaging |
Het |
Map9 |
A |
T |
3: 82,286,272 (GRCm39) |
N359I |
probably damaging |
Het |
Mavs |
T |
C |
2: 131,087,263 (GRCm39) |
S254P |
probably benign |
Het |
Mcts1 |
T |
A |
X: 37,700,636 (GRCm39) |
|
probably benign |
Het |
Mecp2 |
C |
A |
X: 73,079,447 (GRCm39) |
R344L |
possibly damaging |
Het |
Or1e32 |
T |
G |
11: 73,705,612 (GRCm39) |
T99P |
probably damaging |
Het |
Or4z4 |
A |
G |
19: 12,077,000 (GRCm39) |
M1T |
probably null |
Het |
Or5b3 |
G |
T |
19: 13,388,114 (GRCm39) |
M60I |
probably damaging |
Het |
Or8g36 |
T |
C |
9: 39,422,342 (GRCm39) |
I225V |
possibly damaging |
Het |
Or8g54 |
T |
G |
9: 39,706,674 (GRCm39) |
M1R |
probably null |
Het |
Or9g4 |
T |
C |
2: 85,504,701 (GRCm39) |
T265A |
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,119,144 (GRCm39) |
I498V |
probably damaging |
Het |
Rbbp6 |
T |
A |
7: 122,584,898 (GRCm39) |
S185T |
possibly damaging |
Het |
Rd3 |
A |
T |
1: 191,717,283 (GRCm39) |
H251L |
possibly damaging |
Het |
Rnf180 |
T |
A |
13: 105,386,864 (GRCm39) |
D148V |
probably damaging |
Het |
Rnf43 |
C |
A |
11: 87,555,542 (GRCm39) |
A34E |
probably damaging |
Het |
Rslcan18 |
A |
G |
13: 67,250,172 (GRCm39) |
V21A |
probably benign |
Het |
Septin9 |
T |
C |
11: 117,243,469 (GRCm39) |
V128A |
probably damaging |
Het |
Slc36a1 |
A |
G |
11: 55,110,482 (GRCm39) |
H103R |
probably benign |
Het |
Spata6l |
A |
T |
19: 28,873,532 (GRCm39) |
|
probably null |
Het |
Ssh2 |
A |
G |
11: 77,340,732 (GRCm39) |
D628G |
probably damaging |
Het |
Tlcd3a |
T |
C |
11: 76,098,051 (GRCm39) |
|
probably null |
Het |
Tmem119 |
A |
G |
5: 113,933,546 (GRCm39) |
F85S |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,396,936 (GRCm39) |
I398N |
probably benign |
Het |
Ttc3 |
T |
C |
16: 94,191,066 (GRCm39) |
Y203H |
probably benign |
Het |
Vmn1r85 |
A |
C |
7: 12,819,081 (GRCm39) |
V21G |
probably damaging |
Het |
Zfp521 |
T |
C |
18: 14,072,045 (GRCm39) |
H65R |
possibly damaging |
Het |
|
Other mutations in Vars1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-12-09 |