Incidental Mutation 'R5019:Mars2'
ID |
452842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mars2
|
Ensembl Gene |
ENSMUSG00000046994 |
Gene Name |
methionine-tRNA synthetase 2 (mitochondrial) |
Synonyms |
C730026E21Rik |
MMRRC Submission |
042610-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5019 (G1)
|
Quality Score |
59 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
55276336-55279217 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55276468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 24
(S24P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061334]
|
AlphaFold |
Q499X9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061334
AA Change: S24P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049770 Gene: ENSMUSG00000046994 AA Change: S24P
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
|
Meta Mutation Damage Score |
0.1585 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
92% (35/38) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
A |
11: 110,056,760 (GRCm39) |
W20L |
probably benign |
Het |
Adamts17 |
T |
A |
7: 66,711,818 (GRCm39) |
Y81* |
probably null |
Het |
Add3 |
A |
G |
19: 53,231,002 (GRCm39) |
E559G |
probably damaging |
Het |
Ahcyl2 |
A |
T |
6: 29,859,738 (GRCm39) |
K6M |
possibly damaging |
Het |
Asb3 |
A |
T |
11: 31,031,415 (GRCm39) |
N345I |
possibly damaging |
Het |
Carm1 |
T |
C |
9: 21,490,807 (GRCm39) |
|
probably null |
Het |
Ip6k2 |
T |
A |
9: 108,674,945 (GRCm39) |
|
probably benign |
Het |
Kdm4c |
T |
C |
4: 74,261,772 (GRCm39) |
L649P |
probably damaging |
Het |
Klra5 |
T |
C |
6: 129,876,352 (GRCm39) |
T152A |
probably benign |
Het |
Mfap2 |
A |
T |
4: 140,742,569 (GRCm39) |
T142S |
probably damaging |
Het |
Miga1 |
A |
C |
3: 152,028,098 (GRCm39) |
S144A |
possibly damaging |
Het |
Nalf1 |
A |
G |
8: 9,820,240 (GRCm39) |
V260A |
probably benign |
Het |
Or2l5 |
A |
T |
16: 19,334,285 (GRCm39) |
F34I |
probably damaging |
Het |
Or4d2b |
A |
G |
11: 87,779,801 (GRCm39) |
V307A |
probably benign |
Het |
Pate12 |
C |
A |
9: 36,343,198 (GRCm39) |
Q7K |
probably benign |
Het |
Pcdhgb6 |
A |
G |
18: 37,875,994 (GRCm39) |
D234G |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,764,381 (GRCm39) |
N4285D |
unknown |
Het |
Pex1 |
T |
C |
5: 3,672,331 (GRCm39) |
S725P |
probably damaging |
Het |
Pigg |
A |
G |
5: 108,480,015 (GRCm39) |
Y430C |
probably damaging |
Het |
Plcb2 |
A |
T |
2: 118,542,617 (GRCm39) |
L818Q |
probably benign |
Het |
Psmd5 |
A |
G |
2: 34,755,965 (GRCm39) |
|
probably benign |
Het |
Skint8 |
T |
C |
4: 111,785,845 (GRCm39) |
V97A |
probably damaging |
Het |
Tfap2b |
T |
C |
1: 19,296,666 (GRCm39) |
V185A |
probably benign |
Het |
Trim27 |
T |
C |
13: 21,374,134 (GRCm39) |
F294L |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
Ttc28 |
T |
A |
5: 111,249,930 (GRCm39) |
H293Q |
possibly damaging |
Het |
Xkr5 |
T |
C |
8: 18,992,126 (GRCm39) |
T88A |
probably benign |
Het |
Xkr6 |
T |
G |
14: 64,056,515 (GRCm39) |
I142S |
unknown |
Het |
Zfp618 |
T |
C |
4: 63,021,789 (GRCm39) |
Y252H |
probably damaging |
Het |
Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,148,998 (GRCm39) |
D84G |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGTGCCCTGCTTTGACAG -3'
(R):5'- ATCTTCAGGCCGTGCTCATC -3'
Sequencing Primer
(F):5'- CGATCAGTTCAGTTCAGATCCAG -3'
(R):5'- CCGTGCCGGTGGAAAAC -3'
|
Posted On |
2017-01-19 |