Incidental Mutation 'IGL02106:Vars2'
ID |
280002 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vars2
|
Ensembl Gene |
ENSMUSG00000038838 |
Gene Name |
valyl-tRNA synthetase 2, mitochondrial |
Synonyms |
Vars2l, 1190004I24Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02106
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35966526-35978484 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 35975513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001565]
[ENSMUST00000043674]
[ENSMUST00000160734]
[ENSMUST00000160752]
[ENSMUST00000165144]
[ENSMUST00000169093]
|
AlphaFold |
Q3U2A8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001565
|
SMART Domains |
Protein: ENSMUSP00000001565 Gene: ENSMUSG00000001524
Domain | Start | End | E-Value | Type |
Pfam:Tfb2
|
22 |
375 |
6.4e-141 |
PFAM |
PDB:3DOM|C
|
383 |
459 |
7e-13 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043674
|
SMART Domains |
Protein: ENSMUSP00000047917 Gene: ENSMUSG00000038838
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1
|
112 |
736 |
3.3e-179 |
PFAM |
Pfam:tRNA-synt_1g
|
141 |
221 |
2e-8 |
PFAM |
Pfam:Anticodon_1
|
780 |
932 |
3.6e-32 |
PFAM |
low complexity region
|
1005 |
1015 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160535
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160734
|
SMART Domains |
Protein: ENSMUSP00000124335 Gene: ENSMUSG00000001524
Domain | Start | End | E-Value | Type |
Pfam:Tfb2
|
22 |
375 |
1.9e-137 |
PFAM |
PDB:3DOM|C
|
383 |
459 |
7e-13 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160752
|
SMART Domains |
Protein: ENSMUSP00000124458 Gene: ENSMUSG00000001524
Domain | Start | End | E-Value | Type |
Pfam:Tfb2
|
22 |
160 |
6.4e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162927
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164978
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165787
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174129
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168885
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168922
|
SMART Domains |
Protein: ENSMUSP00000129196 Gene: ENSMUSG00000038838
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1
|
2 |
386 |
3e-105 |
PFAM |
Pfam:Anticodon_1
|
430 |
566 |
8.2e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165144
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169093
|
SMART Domains |
Protein: ENSMUSP00000126794 Gene: ENSMUSG00000038838
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1
|
1 |
109 |
1.7e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164404
|
SMART Domains |
Protein: ENSMUSP00000126084 Gene: ENSMUSG00000038838
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1
|
1 |
201 |
1e-49 |
PFAM |
Pfam:tRNA-synt_1g
|
68 |
172 |
4e-7 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl9l |
A |
G |
9: 44,420,496 (GRCm39) |
N1264D |
probably benign |
Het |
Bmyc |
A |
G |
2: 25,597,082 (GRCm39) |
K49E |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Ceacam2 |
A |
G |
7: 25,230,166 (GRCm39) |
S147P |
probably benign |
Het |
Cep152 |
G |
T |
2: 125,444,856 (GRCm39) |
|
probably null |
Het |
Cnbd1 |
G |
T |
4: 18,894,993 (GRCm39) |
P250T |
possibly damaging |
Het |
Col6a4 |
A |
G |
9: 105,940,304 (GRCm39) |
C1209R |
possibly damaging |
Het |
Coro1c |
T |
C |
5: 113,990,334 (GRCm39) |
T116A |
probably benign |
Het |
Ddx46 |
A |
G |
13: 55,825,416 (GRCm39) |
|
probably benign |
Het |
Dnaaf5 |
T |
C |
5: 139,137,268 (GRCm39) |
I207T |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,794,758 (GRCm39) |
D139G |
probably benign |
Het |
Fbxw22 |
A |
T |
9: 109,231,087 (GRCm39) |
I121N |
possibly damaging |
Het |
Fcmr |
T |
C |
1: 130,802,872 (GRCm39) |
S162P |
probably benign |
Het |
Gadl1 |
A |
G |
9: 115,766,225 (GRCm39) |
|
probably benign |
Het |
Gli2 |
T |
A |
1: 118,764,465 (GRCm39) |
S1229C |
probably benign |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Gne |
T |
C |
4: 44,037,306 (GRCm39) |
N692D |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,902,489 (GRCm39) |
T1397A |
possibly damaging |
Het |
Lama3 |
C |
A |
18: 12,601,371 (GRCm39) |
A1016E |
probably damaging |
Het |
Lhfpl2 |
A |
G |
13: 94,328,419 (GRCm39) |
D160G |
probably benign |
Het |
Lmtk2 |
T |
A |
5: 144,112,769 (GRCm39) |
V1163E |
probably benign |
Het |
Lrrtm2 |
G |
T |
18: 35,345,868 (GRCm39) |
S478* |
probably null |
Het |
Nfatc2ip |
T |
C |
7: 125,989,736 (GRCm39) |
|
probably null |
Het |
Nlrp12 |
A |
G |
7: 3,282,574 (GRCm39) |
I775T |
probably benign |
Het |
Npr1 |
A |
G |
3: 90,372,165 (GRCm39) |
F216L |
probably benign |
Het |
Or4m1 |
A |
T |
14: 50,557,617 (GRCm39) |
L225H |
probably damaging |
Het |
Or5ac24 |
T |
A |
16: 59,165,387 (GRCm39) |
N226Y |
probably benign |
Het |
Or5b99 |
G |
T |
19: 12,976,929 (GRCm39) |
S193I |
possibly damaging |
Het |
Pkd1l1 |
C |
A |
11: 8,783,800 (GRCm39) |
G2052C |
probably damaging |
Het |
Ppp1r16b |
A |
G |
2: 158,588,451 (GRCm39) |
N112S |
possibly damaging |
Het |
Prr11 |
A |
G |
11: 86,994,141 (GRCm39) |
|
probably benign |
Het |
Scap |
A |
G |
9: 110,210,724 (GRCm39) |
|
probably benign |
Het |
Sirt1 |
C |
T |
10: 63,171,608 (GRCm39) |
R191Q |
probably damaging |
Het |
Slc38a6 |
A |
C |
12: 73,397,320 (GRCm39) |
S321R |
possibly damaging |
Het |
Sp140 |
T |
C |
1: 85,570,940 (GRCm39) |
V460A |
probably benign |
Het |
Spdye4c |
A |
T |
2: 128,434,586 (GRCm39) |
K54N |
possibly damaging |
Het |
Spta1 |
T |
A |
1: 174,030,860 (GRCm39) |
N947K |
probably benign |
Het |
Srgap1 |
A |
G |
10: 121,621,598 (GRCm39) |
V965A |
possibly damaging |
Het |
Tmem209 |
A |
C |
6: 30,508,659 (GRCm39) |
|
probably null |
Het |
Trim37 |
A |
T |
11: 87,092,230 (GRCm39) |
K123* |
probably null |
Het |
Trio |
T |
C |
15: 27,744,244 (GRCm39) |
T2563A |
possibly damaging |
Het |
Utrn |
A |
T |
10: 12,289,717 (GRCm39) |
S734T |
possibly damaging |
Het |
Xrn1 |
G |
A |
9: 95,859,858 (GRCm39) |
E417K |
probably benign |
Het |
Yeats2 |
T |
A |
16: 20,011,970 (GRCm39) |
V515E |
possibly damaging |
Het |
|
Other mutations in Vars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02320:Vars2
|
APN |
17 |
35,971,346 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02580:Vars2
|
APN |
17 |
35,971,777 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02691:Vars2
|
APN |
17 |
35,971,140 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03039:Vars2
|
APN |
17 |
35,975,013 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4445001:Vars2
|
UTSW |
17 |
35,977,103 (GRCm39) |
nonsense |
probably null |
|
R0079:Vars2
|
UTSW |
17 |
35,970,048 (GRCm39) |
missense |
probably damaging |
0.99 |
R0152:Vars2
|
UTSW |
17 |
35,970,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R0346:Vars2
|
UTSW |
17 |
35,975,756 (GRCm39) |
unclassified |
probably benign |
|
R0426:Vars2
|
UTSW |
17 |
35,975,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R0584:Vars2
|
UTSW |
17 |
35,977,578 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0589:Vars2
|
UTSW |
17 |
35,970,068 (GRCm39) |
missense |
probably benign |
|
R0882:Vars2
|
UTSW |
17 |
35,968,191 (GRCm39) |
missense |
probably benign |
0.41 |
R1234:Vars2
|
UTSW |
17 |
35,978,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R1263:Vars2
|
UTSW |
17 |
35,972,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R1559:Vars2
|
UTSW |
17 |
35,977,150 (GRCm39) |
unclassified |
probably benign |
|
R1772:Vars2
|
UTSW |
17 |
35,970,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R1809:Vars2
|
UTSW |
17 |
35,973,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R1913:Vars2
|
UTSW |
17 |
35,977,814 (GRCm39) |
missense |
probably benign |
0.02 |
R1986:Vars2
|
UTSW |
17 |
35,970,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Vars2
|
UTSW |
17 |
35,975,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R3426:Vars2
|
UTSW |
17 |
35,972,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R4539:Vars2
|
UTSW |
17 |
35,977,780 (GRCm39) |
missense |
probably damaging |
0.99 |
R4751:Vars2
|
UTSW |
17 |
35,970,235 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4861:Vars2
|
UTSW |
17 |
35,972,825 (GRCm39) |
missense |
probably benign |
0.00 |
R4861:Vars2
|
UTSW |
17 |
35,972,825 (GRCm39) |
missense |
probably benign |
0.00 |
R5028:Vars2
|
UTSW |
17 |
35,970,365 (GRCm39) |
critical splice donor site |
probably null |
|
R5217:Vars2
|
UTSW |
17 |
35,969,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R5292:Vars2
|
UTSW |
17 |
35,971,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Vars2
|
UTSW |
17 |
35,976,680 (GRCm39) |
missense |
probably benign |
0.01 |
R6211:Vars2
|
UTSW |
17 |
35,976,554 (GRCm39) |
splice site |
probably null |
|
R6213:Vars2
|
UTSW |
17 |
35,971,332 (GRCm39) |
missense |
probably benign |
0.27 |
R6374:Vars2
|
UTSW |
17 |
35,970,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R6746:Vars2
|
UTSW |
17 |
35,971,294 (GRCm39) |
critical splice donor site |
probably null |
|
R6749:Vars2
|
UTSW |
17 |
35,977,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R6957:Vars2
|
UTSW |
17 |
35,977,967 (GRCm39) |
missense |
probably benign |
0.39 |
R7107:Vars2
|
UTSW |
17 |
35,969,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R7428:Vars2
|
UTSW |
17 |
35,977,578 (GRCm39) |
missense |
probably benign |
0.00 |
R7538:Vars2
|
UTSW |
17 |
35,971,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R7553:Vars2
|
UTSW |
17 |
35,975,680 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7741:Vars2
|
UTSW |
17 |
35,971,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R7784:Vars2
|
UTSW |
17 |
35,969,050 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7823:Vars2
|
UTSW |
17 |
35,970,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R7915:Vars2
|
UTSW |
17 |
35,975,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R8201:Vars2
|
UTSW |
17 |
35,969,202 (GRCm39) |
missense |
probably benign |
|
R8955:Vars2
|
UTSW |
17 |
35,972,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R8964:Vars2
|
UTSW |
17 |
35,970,699 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9101:Vars2
|
UTSW |
17 |
35,969,980 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9202:Vars2
|
UTSW |
17 |
35,977,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R9202:Vars2
|
UTSW |
17 |
35,974,444 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9450:Vars2
|
UTSW |
17 |
35,973,027 (GRCm39) |
missense |
probably damaging |
0.98 |
X0021:Vars2
|
UTSW |
17 |
35,969,926 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1176:Vars2
|
UTSW |
17 |
35,975,683 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1177:Vars2
|
UTSW |
17 |
35,974,364 (GRCm39) |
missense |
probably benign |
0.17 |
|
Posted On |
2015-04-16 |