Incidental Mutation 'IGL02485:Mars2'
ID |
295398 |
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 # |
IGL02485
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
55276336-55279217 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55276750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 118
(F118L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061334]
|
AlphaFold |
Q499X9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061334
AA Change: F118L
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049770 Gene: ENSMUSG00000046994 AA Change: F118L
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,572,729 (GRCm39) |
S841P |
probably benign |
Het |
Cd59b |
A |
C |
2: 103,911,449 (GRCm39) |
|
probably benign |
Het |
Dop1b |
T |
C |
16: 93,567,710 (GRCm39) |
L1379P |
probably damaging |
Het |
Ercc2 |
G |
A |
7: 19,127,970 (GRCm39) |
A433T |
possibly damaging |
Het |
Gm17175 |
T |
C |
14: 51,807,068 (GRCm39) |
|
probably benign |
Het |
Gm5150 |
A |
T |
3: 16,044,916 (GRCm39) |
I103N |
probably damaging |
Het |
Igf1 |
A |
G |
10: 87,700,608 (GRCm39) |
M11V |
probably benign |
Het |
Incenp |
T |
C |
19: 9,870,732 (GRCm39) |
N299S |
unknown |
Het |
Maneal |
A |
T |
4: 124,750,563 (GRCm39) |
S398T |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,129,769 (GRCm39) |
N195S |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
Mrgprb1 |
C |
A |
7: 48,097,465 (GRCm39) |
R149L |
possibly damaging |
Het |
Myo1d |
T |
C |
11: 80,557,407 (GRCm39) |
D511G |
probably damaging |
Het |
Ntan1 |
T |
C |
16: 13,652,540 (GRCm39) |
|
probably benign |
Het |
Nxf2 |
A |
G |
X: 133,857,216 (GRCm39) |
F158L |
probably damaging |
Het |
Odr4 |
A |
G |
1: 150,239,240 (GRCm39) |
|
probably null |
Het |
Or10g3b |
T |
A |
14: 52,587,501 (GRCm39) |
M1L |
possibly damaging |
Het |
Potefam1 |
A |
T |
2: 111,058,670 (GRCm39) |
V94E |
probably damaging |
Het |
Trpm1 |
C |
T |
7: 63,918,862 (GRCm39) |
A734V |
possibly damaging |
Het |
Upf2 |
G |
A |
2: 6,032,102 (GRCm39) |
E883K |
unknown |
Het |
Ush1c |
T |
C |
7: 45,878,674 (GRCm39) |
I83V |
probably damaging |
Het |
Vmn2r60 |
C |
A |
7: 41,844,890 (GRCm39) |
T751N |
possibly damaging |
Het |
Zfp146 |
A |
G |
7: 29,862,015 (GRCm39) |
I9T |
probably benign |
Het |
Zfp592 |
G |
A |
7: 80,687,718 (GRCm39) |
|
probably benign |
Het |
Zswim8 |
C |
T |
14: 20,761,955 (GRCm39) |
L243F |
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 |
IGL02283:Mars2
|
APN |
1 |
55,277,933 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02379:Mars2
|
APN |
1 |
55,277,212 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |