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 |
Incidental Mutation