Incidental Mutation 'R8201:Vars2'
| ID |
635690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vars2
|
| Ensembl Gene |
ENSMUSG00000038838 |
| Gene Name |
valyl-tRNA synthetase 2, mitochondrial |
| Synonyms |
Vars2l, 1190004I24Rik |
| MMRRC Submission |
067624-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8201 (G1)
|
| Quality Score |
173.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35966526-35978484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35969202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 833
(V833E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043674]
[ENSMUST00000169093]
|
| AlphaFold |
Q3U2A8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043674
AA Change: V833E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047917
Gene: ENSMUSG00000038838
AA Change: V833E
| 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 |
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 |
|
| SMART Domains |
Protein: ENSMUSP00000129196
Gene: ENSMUSG00000038838
AA Change: V482E
| 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: 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,195,046 (GRCm39) |
E543G |
probably benign |
Het |
| 2210408I21Rik |
T |
A |
13: 77,341,278 (GRCm39) |
N302K |
possibly damaging |
Het |
| Apbb2 |
T |
C |
5: 66,466,458 (GRCm39) |
N609S |
probably benign |
Het |
| Atp10a |
G |
T |
7: 58,469,424 (GRCm39) |
G1092* |
probably null |
Het |
| Ccdc150 |
A |
G |
1: 54,368,646 (GRCm39) |
N618S |
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,949,115 (GRCm39) |
V287E |
probably damaging |
Het |
| Cyp2j7 |
A |
T |
4: 96,083,564 (GRCm39) |
I462N |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,475,960 (GRCm39) |
A611V |
probably benign |
Het |
| Dusp10 |
C |
A |
1: 183,769,202 (GRCm39) |
A56E |
possibly damaging |
Het |
| Entrep3 |
T |
C |
3: 89,093,115 (GRCm39) |
V291A |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,908,773 (GRCm39) |
C2410G |
possibly damaging |
Het |
| Fcgrt |
T |
A |
7: 44,744,634 (GRCm39) |
Q274L |
possibly damaging |
Het |
| Fdxacb1 |
G |
T |
9: 50,681,455 (GRCm39) |
|
probably benign |
Het |
| Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,060,373 (GRCm39) |
T159S |
probably damaging |
Het |
| Gm7168 |
T |
C |
17: 14,170,042 (GRCm39) |
C470R |
probably benign |
Het |
| Hebp1 |
A |
G |
6: 135,114,906 (GRCm39) |
V185A |
possibly damaging |
Het |
| Il18rap |
G |
T |
1: 40,578,429 (GRCm39) |
R280I |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,456,093 (GRCm39) |
N771S |
probably damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,898,197 (GRCm39) |
N11D |
possibly damaging |
Het |
| Nkiras1 |
T |
C |
14: 18,276,908 (GRCm38) |
|
probably benign |
Het |
| Noct |
T |
C |
3: 51,155,444 (GRCm39) |
S135P |
probably benign |
Het |
| Or1e23 |
T |
A |
11: 73,407,899 (GRCm39) |
N42I |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,419,865 (GRCm39) |
*316R |
noncoding transcript |
Het |
| Or2w3b |
A |
C |
11: 58,623,940 (GRCm39) |
F17C |
probably damaging |
Het |
| Or7e177 |
G |
T |
9: 20,212,317 (GRCm39) |
G271C |
probably damaging |
Het |
| Or7e178 |
T |
C |
9: 20,225,908 (GRCm39) |
M103V |
probably benign |
Het |
| Pcdhac1 |
A |
T |
18: 37,223,892 (GRCm39) |
H235L |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,651,518 (GRCm39) |
|
probably benign |
Het |
| Pdlim1 |
A |
T |
19: 40,218,958 (GRCm39) |
D224E |
probably benign |
Het |
| Plpp3 |
G |
T |
4: 105,076,555 (GRCm39) |
G223W |
probably damaging |
Het |
| Rcan3 |
A |
G |
4: 135,147,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Sel1l2 |
A |
C |
2: 140,108,312 (GRCm39) |
Y191D |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,408,447 (GRCm39) |
F833L |
probably damaging |
Het |
| Tchh |
T |
C |
3: 93,350,781 (GRCm39) |
F74L |
probably damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,278,431 (GRCm39) |
D725G |
probably benign |
Het |
| Tmem14c |
C |
T |
13: 41,171,186 (GRCm39) |
P10S |
probably benign |
Het |
| Ubb |
G |
A |
11: 62,443,053 (GRCm39) |
A28T |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,507,474 (GRCm39) |
D528G |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATACTCACCTGGCAAGCAG -3'
(R):5'- CACTGTTTGGGGATCACTGG -3'
Sequencing Primer
(F):5'- GATCCCGTGTGAAAGCTCCAC -3'
(R):5'- GATCACTGGGCCTGTTCACAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation