Incidental Mutation 'IGL02691:Vars2'
| ID |
303740 |
| 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 # |
IGL02691
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35966526-35978484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 35971140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 592
(L592R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043674]
[ENSMUST00000169093]
|
| AlphaFold |
Q3U2A8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043674
AA Change: L592R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047917
Gene: ENSMUSG00000038838
AA Change: L592R
| 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: ENSMUST00000164295
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168885
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168922
AA Change: L241R
|
| SMART Domains |
Protein: ENSMUSP00000129196
Gene: ENSMUSG00000038838
AA Change: L241R
| 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 |
noncoding transcript
Transcript: ENSMUST00000173162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170701
|
| 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 |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,655,457 (GRCm39) |
S40P |
probably benign |
Het |
| Actl9 |
G |
T |
17: 33,652,092 (GRCm39) |
V51L |
probably damaging |
Het |
| Adcy6 |
A |
T |
15: 98,502,185 (GRCm39) |
F143Y |
probably damaging |
Het |
| Agps |
A |
T |
2: 75,722,204 (GRCm39) |
I465F |
probably benign |
Het |
| Armc3 |
T |
A |
2: 19,240,295 (GRCm39) |
F17L |
probably damaging |
Het |
| Arsk |
A |
C |
13: 76,223,069 (GRCm39) |
M176R |
probably damaging |
Het |
| Asz1 |
G |
A |
6: 18,076,556 (GRCm39) |
T212I |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,931,982 (GRCm39) |
I102T |
probably damaging |
Het |
| Bpifb6 |
T |
A |
2: 153,744,565 (GRCm39) |
L2Q |
unknown |
Het |
| Cad |
A |
G |
5: 31,212,638 (GRCm39) |
Y45C |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,414,342 (GRCm39) |
D451G |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,789,547 (GRCm39) |
I834T |
probably benign |
Het |
| Cyp2j12 |
C |
T |
4: 96,021,231 (GRCm39) |
|
probably null |
Het |
| Dhx8 |
G |
A |
11: 101,642,830 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,800,767 (GRCm39) |
|
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,904,605 (GRCm39) |
D99E |
probably damaging |
Het |
| Enpp1 |
G |
T |
10: 24,587,790 (GRCm39) |
P34T |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,892,564 (GRCm39) |
V2888E |
possibly damaging |
Het |
| Gmfg |
A |
G |
7: 28,144,295 (GRCm39) |
Y40C |
probably damaging |
Het |
| Gnal |
T |
C |
18: 67,355,746 (GRCm39) |
I369T |
probably damaging |
Het |
| Gzmn |
T |
C |
14: 56,404,370 (GRCm39) |
T156A |
probably benign |
Het |
| H2-DMb2 |
A |
T |
17: 34,366,832 (GRCm39) |
H88L |
probably benign |
Het |
| Ighv7-3 |
T |
C |
12: 114,117,016 (GRCm39) |
T49A |
probably benign |
Het |
| Jakmip3 |
C |
T |
7: 138,628,573 (GRCm39) |
Q450* |
probably null |
Het |
| Klhl20 |
A |
T |
1: 160,934,444 (GRCm39) |
|
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,477,924 (GRCm39) |
T99A |
probably benign |
Het |
| Lhx3 |
A |
G |
2: 26,093,097 (GRCm39) |
C118R |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,803,655 (GRCm39) |
|
probably benign |
Het |
| Naa15 |
A |
G |
3: 51,358,747 (GRCm39) |
E294G |
probably damaging |
Het |
| Nfia |
C |
T |
4: 97,970,045 (GRCm39) |
Q373* |
probably null |
Het |
| Notch2 |
C |
A |
3: 98,042,923 (GRCm39) |
Y1429* |
probably null |
Het |
| Oc90 |
A |
G |
15: 65,754,410 (GRCm39) |
S252P |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,771,338 (GRCm39) |
I225V |
probably damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,182 (GRCm39) |
Y290C |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,107,320 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
G |
A |
2: 22,805,253 (GRCm39) |
V211I |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 43,231,213 (GRCm39) |
M226I |
probably benign |
Het |
| Phf11c |
A |
G |
14: 59,622,236 (GRCm39) |
S259P |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,476,713 (GRCm39) |
N269S |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,228,688 (GRCm39) |
V229A |
possibly damaging |
Het |
| Plcb2 |
T |
C |
2: 118,541,444 (GRCm39) |
K997R |
probably benign |
Het |
| Ppm1m |
A |
T |
9: 106,072,568 (GRCm39) |
V449E |
probably damaging |
Het |
| Ppp1r36dn |
T |
C |
12: 76,498,073 (GRCm39) |
|
noncoding transcript |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rgs14 |
A |
G |
13: 55,526,836 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Scamp5 |
G |
T |
9: 57,358,660 (GRCm39) |
R39S |
probably damaging |
Het |
| Slc5a6 |
C |
T |
5: 31,199,518 (GRCm39) |
V15I |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,558,302 (GRCm39) |
V235E |
possibly damaging |
Het |
| Tdrd1 |
G |
T |
19: 56,832,284 (GRCm39) |
E400D |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,539,544 (GRCm39) |
R1593G |
probably benign |
Het |
| Trdv2-2 |
T |
C |
14: 54,199,039 (GRCm39) |
F110L |
possibly damaging |
Het |
| Ush2a |
A |
C |
1: 188,466,949 (GRCm39) |
Y2871S |
probably damaging |
Het |
| Vipr2 |
T |
A |
12: 116,099,849 (GRCm39) |
C239S |
probably benign |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,428 (GRCm39) |
D68V |
probably damaging |
Het |
| Vmn1r7 |
A |
T |
6: 57,001,373 (GRCm39) |
S296T |
probably benign |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,120 (GRCm39) |
I619T |
probably benign |
Het |
|
| Other mutations in Vars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02106:Vars2
|
APN |
17 |
35,975,513 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
Incidental Mutation