Incidental Mutation 'R6746:Vars2'
| ID |
532862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vars2
|
| Ensembl Gene |
ENSMUSG00000038838 |
| Gene Name |
valyl-tRNA synthetase 2, mitochondrial |
| Synonyms |
Vars2l, 1190004I24Rik |
| MMRRC Submission |
044863-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6746 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35966526-35978484 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 35971294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043674]
[ENSMUST00000169093]
|
| AlphaFold |
Q3U2A8 |
| Predicted Effect |
probably null
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 |
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 |
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: 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
100% (58/58) |
| 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 |
|---|
| Abca17 |
A |
T |
17: 24,565,195 (GRCm39) |
L79* |
probably null |
Het |
| Acot3 |
A |
G |
12: 84,100,248 (GRCm39) |
N8S |
probably benign |
Het |
| Adora2a |
T |
C |
10: 75,169,442 (GRCm39) |
V302A |
probably benign |
Het |
| Anpep |
A |
C |
7: 79,488,933 (GRCm39) |
|
probably null |
Het |
| Arrb1 |
A |
G |
7: 99,250,357 (GRCm39) |
K392E |
probably benign |
Het |
| Atp8a1 |
A |
T |
5: 67,908,392 (GRCm39) |
N444K |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,623,020 (GRCm39) |
N298K |
probably benign |
Het |
| Brinp2 |
C |
T |
1: 158,094,160 (GRCm39) |
G181R |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,300,253 (GRCm39) |
C2184* |
probably null |
Het |
| Cacna1h |
C |
T |
17: 25,600,524 (GRCm39) |
A1606T |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,213,915 (GRCm39) |
T205A |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,696 (GRCm39) |
I759T |
probably damaging |
Het |
| Chaf1a |
A |
G |
17: 56,370,404 (GRCm39) |
D623G |
possibly damaging |
Het |
| Col6a3 |
G |
T |
1: 90,706,767 (GRCm39) |
N2115K |
unknown |
Het |
| Dync1h1 |
A |
T |
12: 110,618,087 (GRCm39) |
T3209S |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,523,987 (GRCm39) |
D629G |
possibly damaging |
Het |
| Fahd1 |
G |
T |
17: 25,068,915 (GRCm39) |
A54E |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,501,945 (GRCm39) |
R561Q |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,747,790 (GRCm39) |
D334V |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,941,373 (GRCm39) |
D438E |
probably damaging |
Het |
| Hmgcs1 |
T |
C |
13: 120,156,585 (GRCm39) |
|
probably null |
Het |
| Hnf4g |
C |
A |
3: 3,722,170 (GRCm39) |
Y441* |
probably null |
Het |
| Hspa13 |
A |
T |
16: 75,561,925 (GRCm39) |
N91K |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,413,057 (GRCm39) |
I193T |
possibly damaging |
Het |
| Itga7 |
T |
C |
10: 128,785,341 (GRCm39) |
V848A |
probably benign |
Het |
| Kash5 |
C |
T |
7: 44,849,735 (GRCm39) |
V63I |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,615,529 (GRCm39) |
M341T |
probably benign |
Het |
| Lypd5 |
G |
T |
7: 24,052,531 (GRCm39) |
|
probably null |
Het |
| Mrgprb1 |
A |
C |
7: 48,097,645 (GRCm39) |
V89G |
possibly damaging |
Het |
| Nsun7 |
T |
C |
5: 66,441,080 (GRCm39) |
|
probably null |
Het |
| Oasl1 |
T |
A |
5: 115,075,242 (GRCm39) |
V434E |
probably damaging |
Het |
| Or2ak6 |
G |
A |
11: 58,593,369 (GRCm39) |
V281I |
probably benign |
Het |
| Or7g22 |
A |
G |
9: 19,048,774 (GRCm39) |
M162V |
probably benign |
Het |
| Or8k16 |
T |
C |
2: 85,519,952 (GRCm39) |
Y60H |
probably damaging |
Het |
| Otor |
T |
A |
2: 142,921,955 (GRCm39) |
|
probably null |
Het |
| Pik3cg |
G |
A |
12: 32,244,757 (GRCm39) |
T899M |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,590,695 (GRCm39) |
D74G |
probably benign |
Het |
| Pld2 |
C |
A |
11: 70,431,933 (GRCm39) |
L52M |
probably damaging |
Het |
| Pon3 |
A |
T |
6: 5,230,786 (GRCm39) |
M247K |
possibly damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,742,319 (GRCm39) |
Y1037* |
probably null |
Het |
| Ppm1m |
A |
T |
9: 106,075,351 (GRCm39) |
C99* |
probably null |
Het |
| Prss44 |
A |
T |
9: 110,644,361 (GRCm39) |
*145C |
probably null |
Het |
| Ptpro |
T |
A |
6: 137,371,821 (GRCm39) |
Y613N |
probably damaging |
Het |
| Ralgapb |
T |
G |
2: 158,318,056 (GRCm39) |
V866G |
probably damaging |
Het |
| Rassf6 |
C |
A |
5: 90,757,633 (GRCm39) |
R109L |
possibly damaging |
Het |
| Rbm4b |
A |
C |
19: 4,812,031 (GRCm39) |
T147P |
probably benign |
Het |
| Rpl7l1 |
T |
C |
17: 47,090,322 (GRCm39) |
K104R |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,816,829 (GRCm39) |
I69N |
possibly damaging |
Het |
| Scd1 |
G |
T |
19: 44,394,927 (GRCm39) |
F99L |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,844 (GRCm39) |
I22N |
probably benign |
Het |
| Spint2 |
A |
T |
7: 28,958,848 (GRCm39) |
S66T |
probably benign |
Het |
| Tarm1 |
T |
A |
7: 3,550,978 (GRCm39) |
I2F |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,542,067 (GRCm39) |
V1860A |
probably damaging |
Het |
| Usp38 |
A |
G |
8: 81,740,920 (GRCm39) |
I49T |
possibly damaging |
Het |
| Vmn2r27 |
T |
G |
6: 124,177,552 (GRCm39) |
H484P |
possibly damaging |
Het |
| Wdr35 |
T |
A |
12: 9,053,982 (GRCm39) |
|
probably null |
Het |
| Zfp937 |
A |
T |
2: 150,081,343 (GRCm39) |
K458* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTCTGGCGTCTAGGATG -3'
(R):5'- CTCAGGAGACAGTGTGAAAACC -3'
Sequencing Primer
(F):5'- AGGTCTGCCACATCCAGTC -3'
(R):5'- TGTGAAAACCGAGAGTCTCAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation