Incidental Mutation 'IGL02160:Vars1'
| ID |
282405 |
| 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 # |
IGL02160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35219963-35235298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35220478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 20
(I20N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087315]
[ENSMUST00000172570]
[ENSMUST00000173584]
[ENSMUST00000174260]
|
| AlphaFold |
Q9Z1Q9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087315
AA Change: I20N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
AA Change: I20N
| 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: ENSMUST00000172570
|
| SMART Domains |
Protein: ENSMUSP00000134245
Gene: ENSMUSG00000007029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_C
|
2 |
76 |
1.2e-13 |
PFAM |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172741
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173584
AA Change: I20N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: I20N
| 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 |
probably damaging
Transcript: ENSMUST00000174260
AA Change: I20N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134313
Gene: ENSMUSG00000007029
AA Change: I20N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
2 |
81 |
2.2e-16 |
PFAM |
|
Pfam:GST_C
|
96 |
198 |
2.1e-13 |
PFAM |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
A |
G |
9: 53,503,287 (GRCm39) |
V184A |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,030,522 (GRCm39) |
C750Y |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cabp2 |
T |
A |
19: 4,134,868 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
T |
C |
14: 55,731,015 (GRCm39) |
M94T |
possibly damaging |
Het |
| Ccdc107 |
A |
G |
4: 43,495,736 (GRCm39) |
D213G |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,433,544 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
A |
T |
5: 123,394,081 (GRCm39) |
E323D |
unknown |
Het |
| Cfhr2 |
T |
A |
1: 139,738,664 (GRCm39) |
D299V |
probably benign |
Het |
| Clcn7 |
T |
C |
17: 25,368,004 (GRCm39) |
|
probably benign |
Het |
| Clspn |
G |
A |
4: 126,475,303 (GRCm39) |
E1019K |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,086,477 (GRCm39) |
T350A |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,684,418 (GRCm39) |
G638E |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,643,929 (GRCm39) |
D117E |
probably benign |
Het |
| Fem1al |
A |
T |
11: 29,773,593 (GRCm39) |
Y621* |
probably null |
Het |
| Ffar4 |
T |
A |
19: 38,085,903 (GRCm39) |
V110D |
possibly damaging |
Het |
| Foxred2 |
G |
T |
15: 77,839,850 (GRCm39) |
Q147K |
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,409,651 (GRCm39) |
D107G |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,304,308 (GRCm39) |
A94V |
probably damaging |
Het |
| Htr5b |
A |
T |
1: 121,455,774 (GRCm39) |
S49T |
possibly damaging |
Het |
| Il1rl1 |
A |
T |
1: 40,500,997 (GRCm39) |
M458L |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,400,562 (GRCm39) |
N589K |
probably benign |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,801 (GRCm39) |
V467M |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,054,110 (GRCm39) |
Y537N |
probably damaging |
Het |
| Kif27 |
T |
A |
13: 58,473,812 (GRCm39) |
E728D |
probably damaging |
Het |
| Lum |
T |
C |
10: 97,404,443 (GRCm39) |
S113P |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,469,726 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
A |
G |
5: 129,672,633 (GRCm39) |
D195G |
possibly damaging |
Het |
| Naa38 |
T |
A |
11: 69,287,194 (GRCm39) |
|
probably benign |
Het |
| Naalad2 |
G |
A |
9: 18,291,233 (GRCm39) |
A191V |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,933 (GRCm39) |
H863Q |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,263,003 (GRCm39) |
V477A |
possibly damaging |
Het |
| Nipal3 |
G |
T |
4: 135,201,728 (GRCm39) |
Y153* |
probably null |
Het |
| Or10s1 |
A |
T |
9: 39,986,482 (GRCm39) |
N297I |
probably damaging |
Het |
| Or13d1 |
A |
G |
4: 52,971,194 (GRCm39) |
D191G |
probably damaging |
Het |
| Or4c12 |
G |
T |
2: 89,774,149 (GRCm39) |
H103Q |
probably damaging |
Het |
| Or4g16 |
G |
A |
2: 111,137,143 (GRCm39) |
V198I |
probably benign |
Het |
| Or9s23 |
T |
A |
1: 92,501,079 (GRCm39) |
L62Q |
probably damaging |
Het |
| Pik3c2a |
G |
A |
7: 115,987,299 (GRCm39) |
P541S |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,506 (GRCm39) |
D552E |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,009,475 (GRCm39) |
|
probably benign |
Het |
| Prcp |
G |
A |
7: 92,566,969 (GRCm39) |
S227N |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,489,426 (GRCm39) |
T900S |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,190,360 (GRCm39) |
|
probably benign |
Het |
| Rcsd1 |
A |
G |
1: 165,485,148 (GRCm39) |
S102P |
probably damaging |
Het |
| Rfwd3 |
T |
A |
8: 111,999,707 (GRCm39) |
N757I |
possibly damaging |
Het |
| Rnf217 |
A |
T |
10: 31,381,767 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
G |
2: 65,560,460 (GRCm39) |
D1230G |
probably damaging |
Het |
| Sdc3 |
T |
C |
4: 130,545,886 (GRCm39) |
|
probably benign |
Het |
| Slc27a4 |
G |
T |
2: 29,695,974 (GRCm39) |
D170Y |
probably benign |
Het |
| Tcof1 |
A |
G |
18: 60,981,815 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
T |
A |
17: 56,577,560 (GRCm39) |
I512F |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,343,767 (GRCm39) |
C1211R |
probably benign |
Het |
| Tlr2 |
A |
T |
3: 83,744,678 (GRCm39) |
N468K |
possibly damaging |
Het |
| Tmod4 |
T |
C |
3: 95,036,424 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,933,719 (GRCm39) |
S2380P |
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,713,612 (GRCm39) |
D276G |
probably damaging |
Het |
| Tox |
A |
G |
4: 6,711,537 (GRCm39) |
V309A |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,273,637 (GRCm39) |
F175L |
possibly damaging |
Het |
| Trim43b |
A |
G |
9: 88,973,683 (GRCm39) |
S17P |
probably benign |
Het |
| Ttc21a |
G |
T |
9: 119,785,989 (GRCm39) |
L662F |
probably damaging |
Het |
| Ubqln1 |
A |
T |
13: 58,339,951 (GRCm39) |
N261K |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,205,091 (GRCm39) |
V562A |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
C |
13: 89,832,612 (GRCm39) |
N3092D |
probably damaging |
Het |
| Zc3h6 |
G |
T |
2: 128,839,605 (GRCm39) |
E139D |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation