Incidental Mutation 'R8347:Vars1'
| ID |
645334 |
| 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 |
067867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R8347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35234953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1261
(L1261F)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000173584
AA Change: L1261F
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: L1261F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
A |
5: 138,561,153 (GRCm39) |
I170L |
probably benign |
Het |
| Adamts15 |
C |
T |
9: 30,813,846 (GRCm39) |
R773Q |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,797,065 (GRCm39) |
L249P |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,578,201 (GRCm39) |
F499L |
probably damaging |
Het |
| Cdhr17 |
G |
A |
5: 17,006,572 (GRCm39) |
M96I |
probably benign |
Het |
| Clec12b |
C |
T |
6: 129,357,450 (GRCm39) |
|
probably null |
Het |
| Col23a1 |
G |
A |
11: 51,462,083 (GRCm39) |
G373D |
probably damaging |
Het |
| Cse1l |
C |
T |
2: 166,769,505 (GRCm39) |
T304I |
possibly damaging |
Het |
| D6Wsu163e |
T |
A |
6: 126,932,251 (GRCm39) |
L330* |
probably null |
Het |
| Dbi |
A |
C |
1: 120,048,550 (GRCm39) |
L32R |
possibly damaging |
Het |
| Dennd2c |
A |
G |
3: 103,065,025 (GRCm39) |
Y716C |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,236,812 (GRCm39) |
M379I |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,720,709 (GRCm39) |
D17G |
probably benign |
Het |
| Dync2h1 |
C |
T |
9: 7,116,578 (GRCm39) |
S2319N |
possibly damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,888 (GRCm39) |
K457E |
probably damaging |
Het |
| Efs |
A |
G |
14: 55,157,241 (GRCm39) |
C357R |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,828,174 (GRCm39) |
W516R |
probably damaging |
Het |
| Folh1 |
T |
A |
7: 86,378,326 (GRCm39) |
R529* |
probably null |
Het |
| Fsip2 |
A |
C |
2: 82,818,198 (GRCm39) |
I4644L |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,975,903 (GRCm39) |
Y66C |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,898,110 (GRCm39) |
L730P |
probably damaging |
Het |
| Gm19668 |
T |
C |
10: 77,634,221 (GRCm39) |
*249W |
probably null |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,759,947 (GRCm39) |
D54G |
probably benign |
Het |
| Irs2 |
C |
A |
8: 11,058,000 (GRCm39) |
S144I |
possibly damaging |
Het |
| Itgb5 |
T |
C |
16: 33,761,048 (GRCm39) |
C628R |
probably damaging |
Het |
| Kcnh4 |
A |
T |
11: 100,648,575 (GRCm39) |
V43D |
probably damaging |
Het |
| Krtap16-3 |
A |
T |
16: 88,759,507 (GRCm39) |
Y69N |
unknown |
Het |
| Lcn12 |
A |
C |
2: 25,382,045 (GRCm39) |
D176E |
possibly damaging |
Het |
| Lilrb4b |
T |
A |
10: 51,357,850 (GRCm39) |
F181L |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,880,662 (GRCm39) |
H1251Q |
probably benign |
Het |
| Nppb |
C |
A |
4: 148,070,756 (GRCm39) |
L44M |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,626,373 (GRCm39) |
V320A |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,020 (GRCm39) |
W300R |
probably benign |
Het |
| Or52a24 |
A |
G |
7: 103,381,150 (GRCm39) |
S6G |
probably benign |
Het |
| Or5ae2 |
C |
T |
7: 84,505,963 (GRCm39) |
P131S |
probably damaging |
Het |
| Or5ak4 |
T |
A |
2: 85,162,047 (GRCm39) |
H65L |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,462,719 (GRCm39) |
M301V |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,245,302 (GRCm39) |
R1530Q |
probably damaging |
Het |
| Pcgf6 |
C |
T |
19: 47,034,277 (GRCm39) |
D255N |
possibly damaging |
Het |
| Pgap3 |
TCAGCAGCAGCAGCAGCAG |
TCAGCAGCAGCAGCAG |
11: 98,281,575 (GRCm39) |
|
probably benign |
Het |
| Phip |
A |
G |
9: 82,790,816 (GRCm39) |
I710T |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,365,247 (GRCm39) |
Y108N |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Rint1 |
C |
G |
5: 24,016,770 (GRCm39) |
L512V |
probably damaging |
Het |
| Sdad1 |
A |
C |
5: 92,446,088 (GRCm39) |
F282L |
probably benign |
Het |
| Sirt5 |
G |
T |
13: 43,533,977 (GRCm39) |
A189S |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,154,646 (GRCm39) |
T247A |
probably benign |
Het |
| Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,104,415 (GRCm39) |
K429E |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,934,957 (GRCm39) |
F721S |
probably benign |
Het |
| Spata31d1e |
T |
A |
13: 59,890,050 (GRCm39) |
D590V |
possibly damaging |
Het |
| St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
| Sult2a6 |
A |
G |
7: 13,959,883 (GRCm39) |
Y217H |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,060,060 (GRCm39) |
N394S |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,323,611 (GRCm39) |
Y605* |
probably null |
Het |
| Trank1 |
T |
A |
9: 111,196,317 (GRCm39) |
L1447Q |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,446 (GRCm39) |
L690P |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,376,417 (GRCm39) |
T325A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,539,811 (GRCm39) |
T34392S |
probably benign |
Het |
| Uncx |
A |
G |
5: 139,532,571 (GRCm39) |
E212G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,679,281 (GRCm39) |
T4830A |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,362,345 (GRCm39) |
T1616N |
|
Het |
| Vmn1r223 |
T |
C |
13: 23,434,020 (GRCm39) |
S205P |
probably damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,423 (GRCm39) |
I363K |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,064,838 (GRCm39) |
M16K |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,962,128 (GRCm39) |
T428I |
possibly damaging |
Het |
| Yeats4 |
A |
T |
10: 117,053,374 (GRCm39) |
L129Q |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,509,784 (GRCm39) |
R187G |
probably damaging |
Het |
| Zfp853 |
A |
T |
5: 143,274,702 (GRCm39) |
L321Q |
unknown |
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 |
|
R8139:Vars1
|
UTSW |
17 |
35,230,480 (GRCm39) |
missense |
probably benign |
0.16 |
|
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'- TTCTTGGAAGTAGCCGATGAGG -3'
(R):5'- AAGAGGTATGTGGTGACCCC -3'
Sequencing Primer
(F):5'- ATGAGGCCACAGGTGCCTTG -3'
(R):5'- GGTATGTGGTGACCCCATACCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation