Incidental Mutation 'IGL02283:Mars2'
ID |
289910 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mars2
|
Ensembl Gene |
ENSMUSG00000046994 |
Gene Name |
methionine-tRNA synthetase 2 (mitochondrial) |
Synonyms |
C730026E21Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02283
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
55276336-55279217 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55277933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 512
(V512A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061334]
|
AlphaFold |
Q499X9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061334
AA Change: V512A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000049770 Gene: ENSMUSG00000046994 AA Change: V512A
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1
|
28 |
135 |
1.5e-6 |
PFAM |
Pfam:tRNA-synt_1g
|
38 |
404 |
3.3e-109 |
PFAM |
Pfam:tRNA-synt_1
|
263 |
376 |
4.4e-11 |
PFAM |
Pfam:tRNA-synt_1e
|
319 |
387 |
3.4e-6 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181563
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209801
|
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 produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
T |
C |
10: 83,331,759 (GRCm39) |
Y682C |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,609,450 (GRCm39) |
|
probably null |
Het |
Arhgap1 |
A |
G |
2: 91,501,121 (GRCm39) |
N399S |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,254,248 (GRCm39) |
I511N |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,906,935 (GRCm39) |
C1428S |
probably benign |
Het |
Col18a1 |
T |
C |
10: 76,948,943 (GRCm39) |
T190A |
possibly damaging |
Het |
Cpd |
A |
T |
11: 76,731,251 (GRCm39) |
D318E |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,125,912 (GRCm39) |
V1898E |
probably damaging |
Het |
Gon4l |
T |
C |
3: 88,802,671 (GRCm39) |
M1095T |
probably damaging |
Het |
Gypa |
G |
A |
8: 81,220,721 (GRCm39) |
|
probably benign |
Het |
Irf9 |
G |
A |
14: 55,845,196 (GRCm39) |
R352H |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,365,168 (GRCm39) |
T1633A |
probably benign |
Het |
Myo9a |
A |
G |
9: 59,778,956 (GRCm39) |
N1571D |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,613,265 (GRCm39) |
D846G |
probably benign |
Het |
Or2ak6 |
A |
T |
11: 58,593,102 (GRCm39) |
T192S |
probably damaging |
Het |
Or2y1b |
A |
G |
11: 49,209,162 (GRCm39) |
D263G |
probably benign |
Het |
Or4d11 |
A |
G |
19: 12,013,219 (GRCm39) |
S296P |
possibly damaging |
Het |
Or7a41 |
T |
C |
10: 78,871,379 (GRCm39) |
S250P |
probably damaging |
Het |
Rprd2 |
A |
T |
3: 95,672,815 (GRCm39) |
S863T |
probably damaging |
Het |
Sdf4 |
T |
A |
4: 156,093,293 (GRCm39) |
N208K |
probably benign |
Het |
Sftpd |
A |
T |
14: 40,894,423 (GRCm39) |
V332D |
probably benign |
Het |
Sh2b3 |
T |
C |
5: 121,956,718 (GRCm39) |
D321G |
probably benign |
Het |
Slc45a2 |
T |
A |
15: 11,001,268 (GRCm39) |
N122K |
probably damaging |
Het |
Slk |
T |
A |
19: 47,630,432 (GRCm39) |
F1170Y |
probably damaging |
Het |
Spata7 |
A |
C |
12: 98,624,517 (GRCm39) |
T140P |
probably damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,694,356 (GRCm39) |
L497S |
probably damaging |
Het |
|
Other mutations in Mars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01803:Mars2
|
APN |
1 |
55,277,155 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02379:Mars2
|
APN |
1 |
55,277,212 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02485:Mars2
|
APN |
1 |
55,276,750 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03047:Mars2
|
UTSW |
1 |
55,278,032 (GRCm39) |
missense |
probably benign |
|
R4581:Mars2
|
UTSW |
1 |
55,277,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R5019:Mars2
|
UTSW |
1 |
55,276,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7148:Mars2
|
UTSW |
1 |
55,276,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R7220:Mars2
|
UTSW |
1 |
55,277,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R7358:Mars2
|
UTSW |
1 |
55,276,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R8035:Mars2
|
UTSW |
1 |
55,277,456 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8683:Mars2
|
UTSW |
1 |
55,277,741 (GRCm39) |
missense |
probably benign |
0.35 |
R9075:Mars2
|
UTSW |
1 |
55,278,154 (GRCm39) |
missense |
probably damaging |
0.97 |
R9133:Mars2
|
UTSW |
1 |
55,276,721 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9370:Mars2
|
UTSW |
1 |
55,276,624 (GRCm39) |
missense |
probably benign |
0.26 |
|
Posted On |
2015-04-16 |