Incidental Mutation 'R8855:Vars1'
| ID |
675285 |
| 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 |
068736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R8855 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35234620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1150
(S1150P)
|
| 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: S1150P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
AA Change: S1150P
| 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 |
probably benign
Transcript: ENSMUST00000173584
AA Change: S1150P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: S1150P
| 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: 99.6%
- 20x: 98.8%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
C |
T |
3: 59,914,511 (GRCm39) |
T38I |
probably benign |
Het |
| Ace |
T |
A |
11: 105,861,424 (GRCm39) |
L191* |
probably null |
Het |
| Ahctf1 |
G |
A |
1: 179,614,341 (GRCm39) |
H451Y |
probably damaging |
Het |
| Amotl1 |
C |
A |
9: 14,466,869 (GRCm39) |
|
probably null |
Het |
| Angptl6 |
T |
A |
9: 20,786,940 (GRCm39) |
Y261F |
probably damaging |
Het |
| Arhgap1 |
G |
T |
2: 91,499,744 (GRCm39) |
S293I |
probably benign |
Het |
| Atg9a |
A |
C |
1: 75,161,867 (GRCm39) |
F560V |
probably damaging |
Het |
| B4galnt4 |
G |
A |
7: 140,648,488 (GRCm39) |
G668D |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,935,901 (GRCm39) |
N230K |
probably benign |
Het |
| Ccne1 |
A |
C |
7: 37,800,046 (GRCm39) |
H179Q |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,218,887 (GRCm39) |
D623E |
probably damaging |
Het |
| Cenpf |
C |
A |
1: 189,385,430 (GRCm39) |
K2283N |
probably benign |
Het |
| Clec16a |
A |
T |
16: 10,462,731 (GRCm39) |
D683V |
probably damaging |
Het |
| Clvs2 |
T |
C |
10: 33,404,400 (GRCm39) |
D272G |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,959,494 (GRCm39) |
V380A |
probably damaging |
Het |
| Col20a1 |
C |
A |
2: 180,655,684 (GRCm39) |
P42T |
|
Het |
| Ddx47 |
A |
G |
6: 135,000,356 (GRCm39) |
K451E |
probably benign |
Het |
| Dennd4a |
G |
A |
9: 64,819,672 (GRCm39) |
G1761D |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 118,156,107 (GRCm39) |
H181L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,602,333 (GRCm39) |
C2074R |
probably damaging |
Het |
| Ell2 |
A |
T |
13: 75,917,793 (GRCm39) |
Q574H |
probably damaging |
Het |
| Enpp7 |
A |
G |
11: 118,879,191 (GRCm39) |
N50S |
possibly damaging |
Het |
| Fbp2 |
T |
C |
13: 62,989,709 (GRCm39) |
K199R |
probably benign |
Het |
| Fetub |
A |
T |
16: 22,758,321 (GRCm39) |
E368V |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,507,682 (GRCm39) |
D1209E |
probably benign |
Het |
| Flt1 |
A |
T |
5: 147,618,460 (GRCm39) |
N260K |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,917,465 (GRCm39) |
H3495R |
|
Het |
| Fsip2 |
A |
G |
2: 82,810,521 (GRCm39) |
Q2280R |
probably benign |
Het |
| Gja10 |
A |
T |
4: 32,601,573 (GRCm39) |
C270* |
probably null |
Het |
| Gpld1 |
A |
G |
13: 25,170,890 (GRCm39) |
T794A |
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,004,900 (GRCm39) |
Y157C |
probably damaging |
Het |
| Gsta2 |
T |
C |
9: 78,244,880 (GRCm39) |
K78R |
probably damaging |
Het |
| Gtf3a |
A |
G |
5: 146,885,721 (GRCm39) |
D44G |
probably benign |
Het |
| Hap1 |
C |
A |
11: 100,246,864 (GRCm39) |
G14W |
probably damaging |
Het |
| Hcn4 |
T |
A |
9: 58,765,387 (GRCm39) |
I623N |
unknown |
Het |
| Kank1 |
T |
C |
19: 25,388,702 (GRCm39) |
S792P |
possibly damaging |
Het |
| Klra5 |
A |
T |
6: 129,880,533 (GRCm39) |
W212R |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,754,237 (GRCm39) |
L1622Q |
unknown |
Het |
| Lipi |
T |
A |
16: 75,355,481 (GRCm39) |
D343V |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,445,785 (GRCm39) |
N1009K |
probably benign |
Het |
| Lrrc39 |
T |
A |
3: 116,363,790 (GRCm39) |
I121N |
probably damaging |
Het |
| Mamstr |
A |
T |
7: 45,294,403 (GRCm39) |
D419V |
probably benign |
Het |
| Map2k7 |
C |
T |
8: 4,293,594 (GRCm39) |
T119I |
probably damaging |
Het |
| Mov10l1 |
A |
T |
15: 88,896,169 (GRCm39) |
D671V |
probably benign |
Het |
| Mrps24 |
A |
T |
11: 5,654,642 (GRCm39) |
L104Q |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,102,247 (GRCm39) |
L846H |
probably damaging |
Het |
| Ndufaf5 |
T |
A |
2: 140,025,840 (GRCm39) |
I133N |
possibly damaging |
Het |
| Ndufs5 |
A |
G |
4: 123,609,655 (GRCm39) |
|
probably null |
Het |
| Numa1 |
G |
C |
7: 101,639,835 (GRCm39) |
D62H |
possibly damaging |
Het |
| Or10g3 |
A |
T |
14: 52,610,196 (GRCm39) |
Y105N |
probably damaging |
Het |
| Or52e19 |
T |
A |
7: 102,959,168 (GRCm39) |
I80N |
probably damaging |
Het |
| Or52p2 |
G |
T |
7: 102,237,945 (GRCm39) |
Q2K |
probably benign |
Het |
| Or8b12c |
C |
G |
9: 37,715,709 (GRCm39) |
F167L |
probably damaging |
Het |
| Pag1 |
T |
C |
3: 9,764,529 (GRCm39) |
K208R |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,792,051 (GRCm39) |
V1246A |
probably damaging |
Het |
| Plekhg2 |
T |
C |
7: 28,069,526 (GRCm39) |
T144A |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,361,658 (GRCm39) |
S262T |
probably benign |
Het |
| Pramel14 |
A |
T |
4: 143,720,905 (GRCm39) |
L12Q |
probably damaging |
Het |
| Prpf4 |
A |
G |
4: 62,334,235 (GRCm39) |
D230G |
probably benign |
Het |
| Rbm15b |
C |
T |
9: 106,763,595 (GRCm39) |
R191Q |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,329,852 (GRCm39) |
T721I |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,083,309 (GRCm39) |
I35N |
probably damaging |
Het |
| Sgk1 |
T |
G |
10: 21,871,726 (GRCm39) |
S181A |
probably benign |
Het |
| Slc25a10 |
T |
C |
11: 120,385,795 (GRCm39) |
S74P |
probably damaging |
Het |
| Slc30a3 |
C |
A |
5: 31,245,325 (GRCm39) |
V332F |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,806,122 (GRCm39) |
S240P |
unknown |
Het |
| Snapc4 |
G |
A |
2: 26,264,545 (GRCm39) |
R265W |
probably damaging |
Het |
| Taar1 |
C |
T |
10: 23,796,976 (GRCm39) |
R225C |
possibly damaging |
Het |
| Tmem74 |
A |
G |
15: 43,730,231 (GRCm39) |
S271P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,141,289 (GRCm39) |
V127A |
unknown |
Het |
| Trim66 |
G |
T |
7: 109,081,188 (GRCm39) |
H244N |
probably damaging |
Het |
| Tshz2 |
T |
A |
2: 169,728,425 (GRCm39) |
L1007H |
probably damaging |
Het |
| Ttc39c |
A |
T |
18: 12,831,003 (GRCm39) |
S288C |
probably benign |
Het |
| Twnk |
C |
T |
19: 45,000,272 (GRCm39) |
Q663* |
probably null |
Het |
| Ucn |
T |
A |
5: 31,295,857 (GRCm39) |
Q3L |
probably benign |
Het |
| Usp9y |
C |
T |
Y: 1,395,758 (GRCm39) |
R492H |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfand1 |
T |
C |
3: 10,405,811 (GRCm39) |
D264G |
probably benign |
Het |
| Zfp839 |
A |
G |
12: 110,834,848 (GRCm39) |
E701G |
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 |
|
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 |
|
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'- ACTGTAAGCCTCAGTCCCTC -3'
(R):5'- GCGCTTCTTTTCTTGAGAGTACAG -3'
Sequencing Primer
(F):5'- GTAAGCCTCAGTCCCTCGCATC -3'
(R):5'- GTACAGTGACAAAGGGCCCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation