Incidental Mutation 'R6658:Vars1'
ID |
526740 |
Institutional Source |
Beutler Lab
|
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 # |
R6658 (G1)
|
Quality Score |
196.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35234717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1182
(D1182G)
|
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: D1182G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000084572 Gene: ENSMUSG00000007029 AA Change: D1182G
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000173302
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173584
AA Change: D1182G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000133994 Gene: ENSMUSG00000007029 AA Change: D1182G
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: ENSMUST00000174084
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173911
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
96% (53/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
A |
G |
9: 90,077,353 (GRCm39) |
N1340S |
probably damaging |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Antxr1 |
C |
A |
6: 87,261,291 (GRCm39) |
R167L |
probably damaging |
Het |
BC107364 |
T |
C |
3: 96,348,026 (GRCm39) |
S88G |
unknown |
Het |
Cfap100 |
T |
G |
6: 90,390,400 (GRCm39) |
E80A |
probably damaging |
Het |
Dhx8 |
C |
A |
11: 101,655,748 (GRCm39) |
H1107Q |
probably damaging |
Het |
Dip2c |
G |
A |
13: 9,543,213 (GRCm39) |
|
probably null |
Het |
Dpep2 |
A |
T |
8: 106,716,542 (GRCm39) |
D212E |
probably benign |
Het |
Dpep3 |
T |
C |
8: 106,705,728 (GRCm39) |
T66A |
probably benign |
Het |
Fat4 |
G |
T |
3: 38,997,077 (GRCm39) |
M1765I |
probably benign |
Het |
Gbgt1 |
G |
A |
2: 28,394,998 (GRCm39) |
R212H |
probably benign |
Het |
Gimap4 |
T |
C |
6: 48,668,338 (GRCm39) |
S215P |
possibly damaging |
Het |
Gpr161 |
A |
T |
1: 165,134,136 (GRCm39) |
T133S |
possibly damaging |
Het |
Grin2c |
G |
T |
11: 115,149,108 (GRCm39) |
S163R |
possibly damaging |
Het |
Grip2 |
T |
A |
6: 91,763,472 (GRCm39) |
N109Y |
probably damaging |
Het |
H60c |
G |
A |
10: 3,210,270 (GRCm39) |
T93I |
possibly damaging |
Het |
Hmgcl |
A |
G |
4: 135,682,962 (GRCm39) |
N138S |
probably damaging |
Het |
Hoxa3 |
G |
T |
6: 52,147,058 (GRCm39) |
Y398* |
probably null |
Het |
Igkv1-132 |
A |
G |
6: 67,737,091 (GRCm39) |
N19S |
probably benign |
Het |
Ikbip |
A |
G |
10: 90,932,181 (GRCm39) |
N275S |
probably benign |
Het |
Il7 |
T |
A |
3: 7,642,239 (GRCm39) |
T33S |
probably benign |
Het |
Iqgap2 |
A |
T |
13: 95,796,840 (GRCm39) |
Y1105N |
probably damaging |
Het |
Lmo7 |
A |
G |
14: 102,148,281 (GRCm39) |
D934G |
possibly damaging |
Het |
Mroh4 |
T |
C |
15: 74,492,978 (GRCm39) |
Q310R |
possibly damaging |
Het |
Mtmr14 |
C |
A |
6: 113,242,437 (GRCm39) |
Y22* |
probably null |
Het |
Muc5b |
G |
T |
7: 141,422,244 (GRCm39) |
|
probably null |
Het |
Naga |
T |
G |
15: 82,214,975 (GRCm39) |
K328Q |
probably benign |
Het |
Neo1 |
G |
A |
9: 58,829,132 (GRCm39) |
T589I |
probably benign |
Het |
Nme5 |
A |
C |
18: 34,711,639 (GRCm39) |
I34S |
probably damaging |
Het |
Nrip2 |
T |
C |
6: 128,385,199 (GRCm39) |
L210P |
possibly damaging |
Het |
Nup93 |
A |
G |
8: 95,030,807 (GRCm39) |
D424G |
probably benign |
Het |
Or12e9 |
T |
C |
2: 87,202,497 (GRCm39) |
V207A |
probably benign |
Het |
Or1e26 |
G |
A |
11: 73,479,874 (GRCm39) |
S230F |
probably damaging |
Het |
Papss1 |
T |
A |
3: 131,311,696 (GRCm39) |
V308E |
probably benign |
Het |
Pilrb1 |
T |
A |
5: 137,855,789 (GRCm39) |
Y34F |
probably benign |
Het |
Pira2 |
T |
A |
7: 3,845,300 (GRCm39) |
E319D |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,682,929 (GRCm39) |
T91M |
probably damaging |
Het |
Prph2 |
A |
G |
17: 47,230,790 (GRCm39) |
T228A |
probably benign |
Het |
Ranbp17 |
G |
T |
11: 33,169,214 (GRCm39) |
S1000* |
probably null |
Het |
Rbm27 |
A |
C |
18: 42,457,178 (GRCm39) |
H651P |
probably damaging |
Het |
Scyl2 |
A |
T |
10: 89,476,835 (GRCm39) |
D763E |
probably benign |
Het |
Sltm |
A |
G |
9: 70,488,644 (GRCm39) |
Y598C |
probably damaging |
Het |
Smc2 |
A |
T |
4: 52,451,322 (GRCm39) |
K322I |
probably benign |
Het |
Tcf4 |
G |
A |
18: 69,790,873 (GRCm39) |
R271Q |
probably null |
Het |
Tex36 |
C |
T |
7: 133,196,140 (GRCm39) |
D87N |
probably damaging |
Het |
Tex44 |
A |
C |
1: 86,354,751 (GRCm39) |
H220P |
probably benign |
Het |
Tjp1 |
T |
C |
7: 64,950,825 (GRCm39) |
D1683G |
possibly damaging |
Het |
Trav7-2 |
T |
C |
14: 53,628,573 (GRCm39) |
S104P |
probably damaging |
Het |
Trim55 |
C |
T |
3: 19,745,719 (GRCm39) |
R532C |
probably damaging |
Het |
Ube3c |
T |
A |
5: 29,807,215 (GRCm39) |
L338Q |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,546,556 (GRCm39) |
H3444R |
possibly damaging |
Het |
Vit |
T |
A |
17: 78,930,232 (GRCm39) |
I399N |
possibly damaging |
Het |
Vmn1r16 |
A |
T |
6: 57,300,091 (GRCm39) |
L177* |
probably null |
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 |
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'- TGCTGACTACAACCTGACCC -3'
(R):5'- AGTACAGTGACAAAGGGCCC -3'
Sequencing Primer
(F):5'- ACCAGGCCCGACTGTAAG -3'
(R):5'- TGTGCAGGAGTCCACAGG -3'
|
Posted On |
2018-07-23 |