Incidental Mutation 'R6257:Dars2'
ID |
506371 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dars2
|
Ensembl Gene |
ENSMUSG00000026709 |
Gene Name |
aspartyl-tRNA synthetase 2 (mitochondrial) |
Synonyms |
5830468K18Rik |
MMRRC Submission |
044374-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6257 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
160868171-160898228 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 160869398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 617
(P617Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035430]
|
AlphaFold |
Q8BIP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035430
AA Change: P617Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041851 Gene: ENSMUSG00000026709 AA Change: P617Q
Domain | Start | End | E-Value | Type |
Pfam:tRNA_anti-codon
|
65 |
148 |
7e-10 |
PFAM |
Pfam:tRNA-synt_2
|
165 |
607 |
1.2e-90 |
PFAM |
Pfam:GAD
|
355 |
451 |
2e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083034
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083294
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104032
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160429
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160497
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159399
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159663
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159890
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159404
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160551
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159438
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159119
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159153
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160759
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161748
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162654
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199023
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161229
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195700
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161623
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162289
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162163
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162558
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161380
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
Validation Efficiency |
97% (74/76) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]
|
Allele List at MGI |
All alleles(5) : Targeted(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
T |
17: 36,272,074 (GRCm39) |
N313K |
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
Adamts6 |
A |
T |
13: 104,598,790 (GRCm39) |
Q877L |
probably benign |
Het |
Adgre4 |
C |
T |
17: 56,109,133 (GRCm39) |
T380I |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,409,791 (GRCm39) |
|
probably null |
Het |
Atg16l2 |
A |
G |
7: 100,951,102 (GRCm39) |
|
probably null |
Het |
Bcl6b |
C |
T |
11: 70,116,878 (GRCm39) |
R467H |
probably benign |
Het |
Cacna2d4 |
G |
A |
6: 119,258,580 (GRCm39) |
|
probably null |
Het |
Casp8ap2 |
A |
G |
4: 32,641,364 (GRCm39) |
D806G |
possibly damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Ccser1 |
A |
G |
6: 61,350,946 (GRCm39) |
D501G |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 62,356,769 (GRCm39) |
T736A |
probably benign |
Het |
Cd164l2 |
T |
A |
4: 132,948,345 (GRCm39) |
C19S |
unknown |
Het |
Cdk15 |
G |
A |
1: 59,296,264 (GRCm39) |
|
probably null |
Het |
Cebpz |
T |
C |
17: 79,243,261 (GRCm39) |
E131G |
probably benign |
Het |
Ces1d |
T |
C |
8: 93,893,025 (GRCm39) |
D519G |
probably benign |
Het |
Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
Chd1 |
T |
G |
17: 15,950,465 (GRCm39) |
|
probably null |
Het |
Chil4 |
T |
A |
3: 106,111,412 (GRCm39) |
D234V |
possibly damaging |
Het |
Cldn16 |
T |
A |
16: 26,300,080 (GRCm39) |
S173T |
probably damaging |
Het |
Cpd |
A |
T |
11: 76,703,496 (GRCm39) |
F456I |
probably benign |
Het |
Cst8 |
C |
A |
2: 148,647,365 (GRCm39) |
A125E |
probably damaging |
Het |
Defb26 |
A |
G |
2: 152,349,860 (GRCm39) |
V140A |
unknown |
Het |
Dntt |
T |
G |
19: 41,041,501 (GRCm39) |
V395G |
probably damaging |
Het |
Dock10 |
G |
A |
1: 80,481,413 (GRCm39) |
|
probably benign |
Het |
Dscam |
T |
C |
16: 96,474,914 (GRCm39) |
N1216S |
possibly damaging |
Het |
En1 |
A |
T |
1: 120,531,636 (GRCm39) |
D292V |
unknown |
Het |
Erbb4 |
A |
T |
1: 68,435,432 (GRCm39) |
L155Q |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,998,796 (GRCm39) |
T197A |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,153,407 (GRCm39) |
F3602L |
probably benign |
Het |
Fcsk |
A |
T |
8: 111,617,177 (GRCm39) |
C365S |
probably benign |
Het |
Gm3443 |
A |
T |
19: 21,533,075 (GRCm39) |
D13V |
unknown |
Het |
Gm6401 |
T |
C |
14: 41,789,828 (GRCm39) |
Q10R |
probably benign |
Het |
Gmcl1 |
G |
A |
6: 86,677,623 (GRCm39) |
T410I |
possibly damaging |
Het |
Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
H2-T24 |
T |
A |
17: 36,325,574 (GRCm39) |
T305S |
probably benign |
Het |
Ksr2 |
A |
T |
5: 117,552,909 (GRCm39) |
M6L |
probably benign |
Het |
Lama2 |
A |
G |
10: 26,862,895 (GRCm39) |
L2956S |
possibly damaging |
Het |
Lhfpl3 |
A |
G |
5: 22,951,557 (GRCm39) |
T123A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,486,981 (GRCm39) |
|
probably null |
Het |
Ltn1 |
G |
A |
16: 87,208,662 (GRCm39) |
A812V |
possibly damaging |
Het |
Maml2 |
C |
T |
9: 13,531,722 (GRCm39) |
S312L |
probably damaging |
Het |
Myo7b |
T |
A |
18: 32,146,468 (GRCm39) |
N106Y |
probably damaging |
Het |
Nacc2 |
A |
T |
2: 25,950,420 (GRCm39) |
C439S |
probably damaging |
Het |
Ncoa7 |
A |
G |
10: 30,570,173 (GRCm39) |
I224T |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,440,317 (GRCm39) |
L2303F |
probably damaging |
Het |
Noc3l |
A |
T |
19: 38,784,349 (GRCm39) |
|
probably null |
Het |
Nup155 |
C |
T |
15: 8,180,282 (GRCm39) |
R1120* |
probably null |
Het |
Oas3 |
C |
A |
5: 120,899,200 (GRCm39) |
|
probably benign |
Het |
Ocln |
T |
C |
13: 100,676,017 (GRCm39) |
I159V |
probably benign |
Het |
Or1p1c |
T |
C |
11: 74,160,833 (GRCm39) |
V206A |
probably damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,829 (GRCm39) |
V292E |
probably damaging |
Het |
Os9 |
A |
C |
10: 126,955,006 (GRCm39) |
C181G |
probably damaging |
Het |
Phldb1 |
C |
T |
9: 44,607,437 (GRCm39) |
R1256Q |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,892,195 (GRCm39) |
T208I |
probably benign |
Het |
Plppr4 |
T |
C |
3: 117,116,228 (GRCm39) |
Q485R |
possibly damaging |
Het |
Prkcb |
T |
A |
7: 122,167,386 (GRCm39) |
D365E |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 22,959,639 (GRCm39) |
N45K |
probably damaging |
Het |
Rbl2 |
T |
C |
8: 91,842,306 (GRCm39) |
L987P |
probably damaging |
Het |
Runx1 |
T |
A |
16: 92,492,799 (GRCm39) |
|
probably benign |
Het |
Septin4 |
C |
A |
11: 87,481,175 (GRCm39) |
Q372K |
probably benign |
Het |
Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Sri |
T |
A |
5: 8,109,596 (GRCm39) |
|
probably null |
Het |
St3gal3 |
C |
T |
4: 117,964,875 (GRCm39) |
|
probably benign |
Het |
Tfpt |
A |
T |
7: 3,632,566 (GRCm39) |
L3* |
probably null |
Het |
Tgfb3 |
T |
C |
12: 86,124,615 (GRCm39) |
D31G |
possibly damaging |
Het |
Thsd7a |
G |
T |
6: 12,408,987 (GRCm39) |
C678* |
probably null |
Het |
Tmbim1 |
A |
G |
1: 74,332,225 (GRCm39) |
Y101H |
probably damaging |
Het |
Tmem17 |
A |
G |
11: 22,462,297 (GRCm39) |
|
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,769,113 (GRCm39) |
V769E |
probably damaging |
Het |
Trak1 |
C |
T |
9: 121,275,821 (GRCm39) |
R175C |
probably damaging |
Het |
Trak1 |
G |
T |
9: 121,196,290 (GRCm39) |
V41F |
possibly damaging |
Het |
Trim30c |
T |
C |
7: 104,039,375 (GRCm39) |
Y140C |
probably damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,699,835 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
A |
12: 102,732,099 (GRCm39) |
C158* |
probably null |
Het |
Vmn2r79 |
A |
T |
7: 86,651,778 (GRCm39) |
L392F |
probably benign |
Het |
Zfp536 |
T |
A |
7: 37,179,830 (GRCm39) |
D925V |
probably damaging |
Het |
|
Other mutations in Dars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
P0005:Dars2
|
UTSW |
1 |
160,881,509 (GRCm39) |
critical splice donor site |
probably null |
|
R0230:Dars2
|
UTSW |
1 |
160,890,357 (GRCm39) |
missense |
probably benign |
0.02 |
R0537:Dars2
|
UTSW |
1 |
160,888,318 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0709:Dars2
|
UTSW |
1 |
160,874,498 (GRCm39) |
missense |
probably benign |
0.00 |
R1365:Dars2
|
UTSW |
1 |
160,872,564 (GRCm39) |
nonsense |
probably null |
|
R1502:Dars2
|
UTSW |
1 |
160,874,375 (GRCm39) |
nonsense |
probably null |
|
R1625:Dars2
|
UTSW |
1 |
160,881,614 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1934:Dars2
|
UTSW |
1 |
160,890,811 (GRCm39) |
splice site |
probably null |
|
R2239:Dars2
|
UTSW |
1 |
160,890,852 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3721:Dars2
|
UTSW |
1 |
160,890,878 (GRCm39) |
missense |
probably benign |
0.03 |
R4308:Dars2
|
UTSW |
1 |
160,869,291 (GRCm39) |
missense |
probably damaging |
0.98 |
R4786:Dars2
|
UTSW |
1 |
160,888,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Dars2
|
UTSW |
1 |
160,872,560 (GRCm39) |
missense |
probably damaging |
0.99 |
R4903:Dars2
|
UTSW |
1 |
160,878,941 (GRCm39) |
missense |
probably benign |
0.06 |
R5042:Dars2
|
UTSW |
1 |
160,872,664 (GRCm39) |
intron |
probably benign |
|
R5068:Dars2
|
UTSW |
1 |
160,869,483 (GRCm39) |
missense |
probably benign |
0.02 |
R7286:Dars2
|
UTSW |
1 |
160,874,378 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7346:Dars2
|
UTSW |
1 |
160,874,342 (GRCm39) |
splice site |
probably null |
|
R7444:Dars2
|
UTSW |
1 |
160,874,454 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7593:Dars2
|
UTSW |
1 |
160,885,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7845:Dars2
|
UTSW |
1 |
160,869,318 (GRCm39) |
missense |
probably benign |
0.00 |
R8707:Dars2
|
UTSW |
1 |
160,884,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R8916:Dars2
|
UTSW |
1 |
160,881,552 (GRCm39) |
missense |
probably benign |
0.20 |
R9237:Dars2
|
UTSW |
1 |
160,873,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R9277:Dars2
|
UTSW |
1 |
160,877,527 (GRCm39) |
missense |
probably benign |
0.07 |
X0063:Dars2
|
UTSW |
1 |
160,884,063 (GRCm39) |
missense |
probably benign |
0.14 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGTCTGTGGCAGGTCTG -3'
(R):5'- GCCCATCAGATCAGTAATGGTAGTG -3'
Sequencing Primer
(F):5'- GGCAGGTCTGGATCTTAATTTAAG -3'
(R):5'- AAGCCTTTAGTCCCAGGATTCAGG -3'
|
Posted On |
2018-03-15 |