Incidental Mutation 'R2091:Mars1'
| ID |
231787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mars1
|
| Ensembl Gene |
ENSMUSG00000040354 |
| Gene Name |
methionine-tRNA synthetase 1 |
| Synonyms |
MetRS, Mars, methionine tRNA ligase, methionyl-tRNA synthetase |
| MMRRC Submission |
040096-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R2091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127132090-127147655 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127135154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 646
(S646P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026475]
[ENSMUST00000037290]
[ENSMUST00000139091]
[ENSMUST00000171564]
|
| AlphaFold |
Q68FL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026475
|
| SMART Domains |
Protein: ENSMUSP00000026475
Gene: ENSMUSG00000025408
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
BRLZ
|
94 |
160 |
1.23e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037290
AA Change: S646P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: S646P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4BL7|A
|
1 |
220 |
1e-118 |
PDB |
|
low complexity region
|
221 |
233 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1g
|
268 |
660 |
6.8e-142 |
PFAM |
|
WHEP-TRS
|
847 |
902 |
7.95e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134778
|
| SMART Domains |
Protein: ENSMUSP00000118031
Gene: ENSMUSG00000040354
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f4la1
|
5 |
91 |
2e-10 |
SMART |
|
WHEP-TRS
|
129 |
184 |
7.95e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139091
|
| SMART Domains |
Protein: ENSMUSP00000118339
Gene: ENSMUSG00000025408
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
BRLZ
|
94 |
160 |
1.23e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145275
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171564
AA Change: S646P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: S646P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
26 |
N/A |
INTRINSIC |
|
Pfam:GST_C
|
94 |
180 |
1e-6 |
PFAM |
|
low complexity region
|
205 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
233 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1g
|
268 |
660 |
9.6e-149 |
PFAM |
|
WHEP-TRS
|
855 |
910 |
7.95e-14 |
SMART |
|
| Meta Mutation Damage Score |
0.8910 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: The encoded protein belongs to the class I family of tRNA synthetases, a class of enzymes that charge tRNAs with their cognate amino acids. The related human gene product is essential for the translation initiation of mRNAs. This gene has an overlapping 3' UTR tail-to-tail arrangement with an adjacent gene on the opposite strand that encodes an inhibitor of the CCAAT/enhancer-binding protein's DNA binding activity. This arrangement, conserved in human and mouse, may be involved in mRNA stability and possible functional and regulatory interaction of these adjacent overlapping genes. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
G |
C |
2: 19,522,357 (GRCm39) |
N247K |
probably damaging |
Het |
| 4930402F06Rik |
T |
C |
2: 35,266,079 (GRCm39) |
K197R |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,485,200 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
T |
C |
8: 84,661,093 (GRCm39) |
I862T |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,239,248 (GRCm39) |
V583M |
probably damaging |
Het |
| Angpt4 |
A |
T |
2: 151,778,703 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
| Atg14 |
A |
T |
14: 47,780,352 (GRCm39) |
I474N |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,862,638 (GRCm39) |
S206P |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,042,405 (GRCm39) |
T2797I |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,140,430 (GRCm39) |
D221V |
probably damaging |
Het |
| Ccdc93 |
T |
A |
1: 121,411,071 (GRCm39) |
|
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,303,677 (GRCm39) |
V1409E |
probably benign |
Het |
| Dsc2 |
G |
A |
18: 20,166,351 (GRCm39) |
T760I |
possibly damaging |
Het |
| Etnk2 |
T |
G |
1: 133,304,791 (GRCm39) |
|
probably null |
Het |
| Gbp7 |
A |
T |
3: 142,240,383 (GRCm39) |
I34F |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,251,316 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,689,062 (GRCm39) |
S12P |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,755 (GRCm39) |
I168T |
probably damaging |
Het |
| Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,549,422 (GRCm39) |
|
probably benign |
Het |
| Igkv8-30 |
A |
C |
6: 70,094,070 (GRCm39) |
C114G |
probably damaging |
Het |
| Lrrc4 |
T |
G |
6: 28,830,586 (GRCm39) |
D343A |
probably benign |
Het |
| Mterf1b |
A |
T |
5: 4,247,057 (GRCm39) |
T233S |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,201,964 (GRCm39) |
V171D |
possibly damaging |
Het |
| Nbas |
G |
A |
12: 13,411,046 (GRCm39) |
D897N |
probably benign |
Het |
| Nfx1 |
T |
C |
4: 40,977,004 (GRCm39) |
V226A |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Ntrk2 |
A |
G |
13: 59,007,115 (GRCm39) |
H239R |
possibly damaging |
Het |
| Or10g9 |
T |
C |
9: 39,912,500 (GRCm39) |
T8A |
probably benign |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,653 (GRCm39) |
S328P |
probably damaging |
Het |
| Pigm |
T |
C |
1: 172,205,100 (GRCm39) |
Y279H |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,737,156 (GRCm39) |
L880P |
probably damaging |
Het |
| Plaat3 |
A |
G |
19: 7,556,474 (GRCm39) |
I92V |
probably damaging |
Het |
| Polh |
A |
T |
17: 46,492,380 (GRCm39) |
|
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,171,428 (GRCm39) |
|
probably benign |
Het |
| Ptger4 |
T |
A |
15: 5,272,326 (GRCm39) |
I98F |
possibly damaging |
Het |
| Rasl11a |
T |
A |
5: 146,783,927 (GRCm39) |
I124N |
probably damaging |
Het |
| Rest |
A |
G |
5: 77,429,126 (GRCm39) |
K515R |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,474 (GRCm39) |
L1746P |
probably damaging |
Het |
| Ryr2 |
G |
T |
13: 11,960,863 (GRCm39) |
T25K |
probably benign |
Het |
| Serpina3g |
A |
T |
12: 104,205,417 (GRCm39) |
D52V |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,703,881 (GRCm39) |
N998S |
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,665,763 (GRCm39) |
T184S |
probably benign |
Het |
| Ssbp1 |
A |
G |
6: 40,453,433 (GRCm39) |
Y73C |
probably null |
Het |
| Suclg1 |
A |
G |
6: 73,241,259 (GRCm39) |
K193R |
probably benign |
Het |
| Tnrc18 |
A |
C |
5: 142,759,396 (GRCm39) |
S813R |
unknown |
Het |
| Tnrc6a |
T |
C |
7: 122,771,343 (GRCm39) |
|
probably null |
Het |
| Trap1 |
A |
C |
16: 3,863,903 (GRCm39) |
Y472* |
probably null |
Het |
| Trpm8 |
T |
C |
1: 88,271,048 (GRCm39) |
I446T |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,644,294 (GRCm39) |
L297P |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,190,893 (GRCm39) |
M247V |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,710,874 (GRCm39) |
|
probably benign |
Het |
| Zfp174 |
A |
G |
16: 3,672,506 (GRCm39) |
R352G |
possibly damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,731 (GRCm39) |
K134* |
probably null |
Het |
|
| Other mutations in Mars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Mars1
|
APN |
10 |
127,133,875 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL00813:Mars1
|
APN |
10 |
127,135,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01292:Mars1
|
APN |
10 |
127,141,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01718:Mars1
|
APN |
10 |
127,141,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02505:Mars1
|
APN |
10 |
127,140,113 (GRCm39) |
nonsense |
probably null |
|
|
IGL02986:Mars1
|
APN |
10 |
127,133,438 (GRCm39) |
missense |
probably benign |
0.09 |
|
menschen
|
UTSW |
10 |
127,132,549 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4366001:Mars1
|
UTSW |
10 |
127,135,267 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0149:Mars1
|
UTSW |
10 |
127,135,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Mars1
|
UTSW |
10 |
127,133,857 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1702:Mars1
|
UTSW |
10 |
127,145,948 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1998:Mars1
|
UTSW |
10 |
127,138,740 (GRCm39) |
missense |
probably benign |
|
|
R1998:Mars1
|
UTSW |
10 |
127,136,347 (GRCm39) |
nonsense |
probably null |
|
|
R2089:Mars1
|
UTSW |
10 |
127,135,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Mars1
|
UTSW |
10 |
127,135,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Mars1
|
UTSW |
10 |
127,136,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Mars1
|
UTSW |
10 |
127,136,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Mars1
|
UTSW |
10 |
127,132,549 (GRCm39) |
unclassified |
probably benign |
|
|
R5563:Mars1
|
UTSW |
10 |
127,144,530 (GRCm39) |
missense |
probably benign |
|
|
R5890:Mars1
|
UTSW |
10 |
127,133,914 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5895:Mars1
|
UTSW |
10 |
127,132,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5986:Mars1
|
UTSW |
10 |
127,140,171 (GRCm39) |
nonsense |
probably null |
|
|
R6300:Mars1
|
UTSW |
10 |
127,132,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7267:Mars1
|
UTSW |
10 |
127,144,455 (GRCm39) |
missense |
probably benign |
|
|
R7544:Mars1
|
UTSW |
10 |
127,147,479 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7573:Mars1
|
UTSW |
10 |
127,138,679 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7740:Mars1
|
UTSW |
10 |
127,136,444 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7884:Mars1
|
UTSW |
10 |
127,136,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8286:Mars1
|
UTSW |
10 |
127,141,348 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8397:Mars1
|
UTSW |
10 |
127,136,368 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9174:Mars1
|
UTSW |
10 |
127,135,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Mars1
|
UTSW |
10 |
127,144,493 (GRCm39) |
nonsense |
probably null |
|
|
R9662:Mars1
|
UTSW |
10 |
127,136,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Mars1
|
UTSW |
10 |
127,144,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTGACCAATTCCATCAAACCAC -3'
(R):5'- TTGGACAGTCAGCACTTGGG -3'
Sequencing Primer
(F):5'- ACCACCTGGCTACAGCTG -3'
(R):5'- CTGTCCAGAGTACCTGAACTATGAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation