Incidental Mutation 'R6390:Vars'
| ID |
515743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vars
|
| Ensembl Gene |
ENSMUSG00000007029 |
| Gene Name |
valyl-tRNA synthetase |
| Synonyms |
Bat-6, Bat6, G7a, D17H6S56E, Vars2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35000987-35016322 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35015639 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 1148
(A1148E)
|
| 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: A1148E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
AA Change: A1148E
| 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 |
noncoding transcript
Transcript: ENSMUST00000173336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173584
AA Change: A1148E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: A1148E
| 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: ENSMUST00000174084
|
| Meta Mutation Damage Score |
0.0978 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9a |
G |
T |
1: 75,187,981 |
P113Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,368,017 |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,373,929 |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,936,375 |
M68T |
probably damaging |
Het |
| Cyp2d26 |
G |
A |
15: 82,792,624 |
P174S |
possibly damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 |
N311H |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,315,857 |
M183V |
probably benign |
Het |
| Fam111a |
T |
G |
19: 12,588,160 |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 38,980,380 |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,436,611 |
Y107N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,306,823 |
E49Q |
possibly damaging |
Het |
| Hibadh |
A |
C |
6: 52,556,489 |
L214R |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,762,473 |
|
probably null |
Het |
| Irak4 |
T |
C |
15: 94,561,486 |
S328P |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,419,946 |
Y44* |
probably null |
Het |
| Lrrc46 |
T |
C |
11: 97,040,931 |
T22A |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,752,146 |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,115,249 |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 33,881,181 |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,570,992 |
T493K |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 45,287,002 |
M135L |
probably benign |
Het |
| Sprtn |
A |
G |
8: 124,903,219 |
N417S |
probably benign |
Het |
| Trim61 |
T |
A |
8: 65,014,190 |
M140L |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,268,463 |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,605,249 |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,460,114 |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 33,104,094 |
D1200G |
probably damaging |
Het |
| Wdr63 |
A |
G |
3: 146,095,388 |
L105P |
probably damaging |
Het |
| Zbtb6 |
A |
T |
2: 37,428,678 |
S413T |
probably benign |
Het |
| Zp2 |
G |
T |
7: 120,141,230 |
N170K |
probably benign |
Het |
|
| Other mutations in Vars |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01520:Vars
|
APN |
17 |
35013873 |
missense |
probably benign |
0.00 |
|
IGL02160:Vars
|
APN |
17 |
35001502 |
missense |
probably damaging |
1.00 |
|
IGL02303:Vars
|
APN |
17 |
35015484 |
splice site |
probably benign |
|
|
IGL03027:Vars
|
APN |
17 |
35013687 |
missense |
probably damaging |
1.00 |
|
Maladroit
|
UTSW |
17 |
35005475 |
missense |
probably benign |
0.30 |
|
Whoops
|
UTSW |
17 |
35013644 |
missense |
probably damaging |
1.00 |
|
FR4304:Vars
|
UTSW |
17 |
35015989 |
small insertion |
probably benign |
|
|
FR4548:Vars
|
UTSW |
17 |
35015989 |
small insertion |
probably benign |
|
|
FR4548:Vars
|
UTSW |
17 |
35015991 |
small insertion |
probably benign |
|
|
FR4589:Vars
|
UTSW |
17 |
35015988 |
small insertion |
probably benign |
|
|
R0045:Vars
|
UTSW |
17 |
35010619 |
missense |
probably damaging |
1.00 |
|
R0045:Vars
|
UTSW |
17 |
34998066 |
missense |
probably benign |
0.13 |
|
R0045:Vars
|
UTSW |
17 |
35010619 |
missense |
probably damaging |
1.00 |
|
R0266:Vars
|
UTSW |
17 |
35013869 |
missense |
probably benign |
0.00 |
|
R0267:Vars
|
UTSW |
17 |
35011596 |
splice site |
probably benign |
|
|
R0391:Vars
|
UTSW |
17 |
35011486 |
missense |
possibly damaging |
0.79 |
|
R0445:Vars
|
UTSW |
17 |
35011809 |
missense |
probably benign |
0.31 |
|
R0449:Vars
|
UTSW |
17 |
35012727 |
splice site |
probably null |
|
|
R0557:Vars
|
UTSW |
17 |
35004984 |
missense |
possibly damaging |
0.90 |
|
R0559:Vars
|
UTSW |
17 |
35014058 |
nonsense |
probably null |
|
|
R0730:Vars
|
UTSW |
17 |
35014300 |
missense |
probably damaging |
1.00 |
|
R0748:Vars
|
UTSW |
17 |
34998012 |
missense |
probably damaging |
1.00 |
|
R1692:Vars
|
UTSW |
17 |
35013725 |
missense |
probably damaging |
1.00 |
|
R1693:Vars
|
UTSW |
17 |
34998196 |
missense |
probably benign |
0.31 |
|
R1697:Vars
|
UTSW |
17 |
34998222 |
missense |
probably benign |
0.43 |
|
R1699:Vars
|
UTSW |
17 |
35014758 |
missense |
possibly damaging |
0.93 |
|
R1712:Vars
|
UTSW |
17 |
35014752 |
missense |
probably damaging |
1.00 |
|
R1989:Vars
|
UTSW |
17 |
35011838 |
missense |
possibly damaging |
0.94 |
|
R2349:Vars
|
UTSW |
17 |
35015752 |
missense |
probably benign |
|
|
R2365:Vars
|
UTSW |
17 |
35015452 |
missense |
probably benign |
0.01 |
|
R3790:Vars
|
UTSW |
17 |
34999334 |
missense |
probably benign |
0.34 |
|
R4615:Vars
|
UTSW |
17 |
35013881 |
missense |
probably damaging |
0.97 |
|
R4844:Vars
|
UTSW |
17 |
35011612 |
missense |
probably damaging |
1.00 |
|
R4856:Vars
|
UTSW |
17 |
35015726 |
missense |
probably benign |
0.37 |
|
R4886:Vars
|
UTSW |
17 |
35015726 |
missense |
probably benign |
0.37 |
|
R5570:Vars
|
UTSW |
17 |
35016238 |
missense |
probably benign |
0.04 |
|
R5706:Vars
|
UTSW |
17 |
35005481 |
splice site |
probably null |
|
|
R5858:Vars
|
UTSW |
17 |
35005475 |
missense |
probably benign |
0.30 |
|
R5907:Vars
|
UTSW |
17 |
35012376 |
missense |
probably damaging |
1.00 |
|
R5917:Vars
|
UTSW |
17 |
35012515 |
missense |
probably damaging |
0.99 |
|
R5944:Vars
|
UTSW |
17 |
35013644 |
missense |
probably damaging |
1.00 |
|
R6023:Vars
|
UTSW |
17 |
35001609 |
missense |
probably damaging |
1.00 |
|
R6073:Vars
|
UTSW |
17 |
35001529 |
missense |
probably benign |
|
|
R6273:Vars
|
UTSW |
17 |
35013743 |
missense |
probably damaging |
1.00 |
|
R6658:Vars
|
UTSW |
17 |
35015741 |
missense |
probably benign |
0.03 |
|
R7067:Vars
|
UTSW |
17 |
35011479 |
missense |
probably damaging |
0.98 |
|
R7387:Vars
|
UTSW |
17 |
35004792 |
nonsense |
probably null |
|
|
R7954:Vars
|
UTSW |
17 |
35015984 |
missense |
probably benign |
0.01 |
|
R8139:Vars
|
UTSW |
17 |
35011504 |
missense |
probably benign |
0.16 |
|
R8347:Vars
|
UTSW |
17 |
35015977 |
missense |
possibly damaging |
0.92 |
|
R8387:Vars
|
UTSW |
17 |
35010514 |
missense |
probably damaging |
0.99 |
|
R8855:Vars
|
UTSW |
17 |
35015644 |
missense |
probably benign |
0.00 |
|
R8866:Vars
|
UTSW |
17 |
35015644 |
missense |
probably benign |
0.00 |
|
R9131:Vars
|
UTSW |
17 |
35004797 |
missense |
possibly damaging |
0.77 |
|
R9620:Vars
|
UTSW |
17 |
35016025 |
missense |
unknown |
|
|
R9695:Vars
|
UTSW |
17 |
35012588 |
missense |
possibly damaging |
0.82 |
|
Z1177:Vars
|
UTSW |
17 |
35011477 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGACTACAACCTGACCC -3'
(R):5'- GCGCTTCTTTTCTTGAGAGTAC -3'
Sequencing Primer
(F):5'- TACAACCTGACCCGCACCAG -3'
(R):5'- GTACAGTGACAAAGGGCCCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation