Incidental Mutation 'IGL03027:Vars1'
| ID |
408203 |
| 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: 0.963)
|
| Stock # |
IGL03027
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35232663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 862
(M862I)
|
| 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 damaging
Transcript: ENSMUST00000087315
AA Change: M862I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
AA Change: M862I
| 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 damaging
Transcript: ENSMUST00000173584
AA Change: M862I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: M862I
| 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: ENSMUST00000173911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173336
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
A |
T |
17: 43,607,605 (GRCm39) |
Y108F |
probably damaging |
Het |
| Afap1 |
T |
C |
5: 36,119,094 (GRCm39) |
I243T |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,216,025 (GRCm39) |
D320G |
probably damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,623,157 (GRCm39) |
I423K |
probably damaging |
Het |
| Casp9 |
A |
G |
4: 141,539,584 (GRCm39) |
E410G |
probably benign |
Het |
| Ccdc39 |
A |
C |
3: 33,884,267 (GRCm39) |
H358Q |
probably benign |
Het |
| Ces5a |
A |
T |
8: 94,249,742 (GRCm39) |
|
probably null |
Het |
| Clip1 |
A |
T |
5: 123,759,919 (GRCm39) |
M935K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,548,833 (GRCm39) |
Y2171H |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,996 (GRCm39) |
N417I |
possibly damaging |
Het |
| Dock3 |
G |
A |
9: 106,870,677 (GRCm39) |
P579L |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,866,164 (GRCm39) |
M1209V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,958,450 (GRCm39) |
T334A |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,225,106 (GRCm39) |
I1171F |
possibly damaging |
Het |
| Eya1 |
G |
T |
1: 14,241,190 (GRCm39) |
H576N |
probably damaging |
Het |
| Fam117a |
A |
G |
11: 95,268,399 (GRCm39) |
T267A |
probably benign |
Het |
| Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,205,980 (GRCm39) |
H291R |
probably damaging |
Het |
| Gm7145 |
T |
C |
1: 117,895,417 (GRCm39) |
S27P |
probably benign |
Het |
| Gpt |
C |
T |
15: 76,582,289 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
| Hif1a |
C |
T |
12: 73,987,251 (GRCm39) |
P448L |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,684,290 (GRCm39) |
V427I |
probably benign |
Het |
| Ipo8 |
C |
A |
6: 148,678,737 (GRCm39) |
V954L |
probably benign |
Het |
| Kdm5a |
G |
T |
6: 120,351,951 (GRCm39) |
|
probably null |
Het |
| Klhl36 |
T |
A |
8: 120,603,229 (GRCm39) |
S495T |
probably benign |
Het |
| Lpar5 |
T |
A |
6: 125,059,203 (GRCm39) |
L308Q |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,367,897 (GRCm39) |
D205A |
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,063,057 (GRCm39) |
I83T |
probably benign |
Het |
| Mapk8ip2 |
A |
T |
15: 89,342,310 (GRCm39) |
D507V |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,355,501 (GRCm39) |
|
probably benign |
Het |
| Myef2 |
T |
A |
2: 124,930,954 (GRCm39) |
H539L |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,221,007 (GRCm39) |
E972G |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,359,524 (GRCm39) |
Y571H |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,538,207 (GRCm39) |
N478I |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,780 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,130,627 (GRCm39) |
Q89L |
probably benign |
Het |
| Ppard |
C |
A |
17: 28,518,765 (GRCm39) |
T422K |
possibly damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,796,830 (GRCm39) |
Y904* |
probably null |
Het |
| Ptx4 |
T |
A |
17: 25,344,022 (GRCm39) |
I424K |
possibly damaging |
Het |
| Rab19 |
A |
G |
6: 39,360,927 (GRCm39) |
D25G |
probably damaging |
Het |
| Rbl2 |
T |
A |
8: 91,805,534 (GRCm39) |
I197N |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,997,814 (GRCm39) |
D273G |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,313,601 (GRCm39) |
R1920C |
probably benign |
Het |
| Sec23b |
A |
T |
2: 144,429,465 (GRCm39) |
N731I |
possibly damaging |
Het |
| Serpinb9d |
G |
A |
13: 33,386,698 (GRCm39) |
W255* |
probably null |
Het |
| Sim2 |
G |
A |
16: 93,910,351 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,920,167 (GRCm39) |
|
probably null |
Het |
| Tmem176b |
C |
T |
6: 48,812,573 (GRCm39) |
A131T |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,348,494 (GRCm39) |
V332D |
probably damaging |
Het |
| Trgc1 |
G |
T |
13: 19,398,563 (GRCm39) |
G97* |
probably null |
Het |
| Tuba3b |
T |
A |
6: 145,565,117 (GRCm39) |
L195Q |
probably damaging |
Het |
| Ubc |
A |
T |
5: 125,464,565 (GRCm39) |
V254D |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,465,734 (GRCm39) |
P239T |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,777 (GRCm39) |
|
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,188,824 (GRCm39) |
A720V |
probably damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,519,820 (GRCm39) |
R314Q |
probably damaging |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation