Incidental Mutation 'R3707:Mtg1'
| ID |
258751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtg1
|
| Ensembl Gene |
ENSMUSG00000039018 |
| Gene Name |
mitochondrial ribosome-associated GTPase 1 |
| Synonyms |
LOC212508, Gtpbp7 |
| MMRRC Submission |
040700-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3707 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139717477-139730699 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139729717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 269
(K269M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036977]
[ENSMUST00000059241]
|
| AlphaFold |
Q8R2R6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036977
AA Change: K269M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036491
Gene: ENSMUSG00000039018
AA Change: K269M
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1egaa1
|
31 |
129 |
5e-6 |
SMART |
|
Pfam:FeoB_N
|
143 |
219 |
3.9e-6 |
PFAM |
|
Pfam:MMR_HSR1
|
144 |
283 |
2.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059241
|
| SMART Domains |
Protein: ENSMUSP00000053901
Gene: ENSMUSG00000045733
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shadoo
|
19 |
147 |
7.2e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155723
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156791
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211171
|
| Meta Mutation Damage Score |
0.1118 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Avpr1a |
T |
A |
10: 122,285,014 (GRCm39) |
F102Y |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
| Chrng |
C |
T |
1: 87,138,333 (GRCm39) |
Q375* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
| Dennd6a |
T |
C |
14: 26,313,546 (GRCm39) |
|
probably benign |
Het |
| Eef2k |
C |
A |
7: 120,483,935 (GRCm39) |
L224I |
probably damaging |
Het |
| Gm10033 |
G |
C |
8: 69,825,068 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11545 |
T |
C |
11: 94,648,385 (GRCm39) |
|
noncoding transcript |
Het |
| Herpud1 |
T |
A |
8: 95,118,867 (GRCm39) |
V207D |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,134,285 (GRCm39) |
Y105C |
probably benign |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,801,099 (GRCm39) |
L83P |
probably damaging |
Het |
| Lrch1 |
C |
T |
14: 75,095,437 (GRCm39) |
M134I |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
| Nkain3 |
A |
T |
4: 20,484,920 (GRCm39) |
F52L |
possibly damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
| Or12e10 |
T |
C |
2: 87,640,520 (GRCm39) |
C119R |
probably damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,254 (GRCm39) |
I193F |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Pdhb |
T |
C |
14: 8,170,409 (GRCm38) |
N114S |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Pimreg |
G |
A |
11: 71,937,158 (GRCm39) |
|
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
| Resf1 |
C |
T |
6: 149,230,611 (GRCm39) |
S1219L |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,983,592 (GRCm39) |
D578E |
probably damaging |
Het |
| Rrbp1 |
G |
T |
2: 143,795,197 (GRCm39) |
A1269E |
probably benign |
Het |
| Rufy3 |
G |
A |
5: 88,790,891 (GRCm39) |
A531T |
probably benign |
Het |
| Slc22a22 |
C |
A |
15: 57,114,369 (GRCm39) |
L319F |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,201,658 (GRCm39) |
|
probably null |
Het |
| Tdrd1 |
T |
C |
19: 56,854,425 (GRCm39) |
S1124P |
possibly damaging |
Het |
| Top2a |
T |
C |
11: 98,887,651 (GRCm39) |
K1286E |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,388,447 (GRCm38) |
V188A |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,296,895 (GRCm39) |
I630N |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,981 (GRCm39) |
T613A |
possibly damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,726,879 (GRCm39) |
Y486H |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,960,553 (GRCm39) |
T13A |
probably benign |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly damaging |
Het |
|
| Other mutations in Mtg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01739:Mtg1
|
APN |
7 |
139,730,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02105:Mtg1
|
APN |
7 |
139,730,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02458:Mtg1
|
APN |
7 |
139,730,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02682:Mtg1
|
APN |
7 |
139,724,642 (GRCm39) |
splice site |
probably benign |
|
|
R0666:Mtg1
|
UTSW |
7 |
139,724,257 (GRCm39) |
missense |
probably benign |
|
|
R0893:Mtg1
|
UTSW |
7 |
139,729,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Mtg1
|
UTSW |
7 |
139,720,196 (GRCm39) |
missense |
probably null |
1.00 |
|
R5810:Mtg1
|
UTSW |
7 |
139,725,898 (GRCm39) |
splice site |
probably null |
|
|
R5886:Mtg1
|
UTSW |
7 |
139,729,778 (GRCm39) |
splice site |
probably null |
|
|
R5960:Mtg1
|
UTSW |
7 |
139,726,906 (GRCm39) |
unclassified |
probably benign |
|
|
R7069:Mtg1
|
UTSW |
7 |
139,723,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7110:Mtg1
|
UTSW |
7 |
139,726,779 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7492:Mtg1
|
UTSW |
7 |
139,724,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Mtg1
|
UTSW |
7 |
139,729,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Mtg1
|
UTSW |
7 |
139,727,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8155:Mtg1
|
UTSW |
7 |
139,724,622 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8444:Mtg1
|
UTSW |
7 |
139,718,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Mtg1
|
UTSW |
7 |
139,720,136 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8713:Mtg1
|
UTSW |
7 |
139,717,688 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9424:Mtg1
|
UTSW |
7 |
139,727,212 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTACTGTCTTGGTGAGGGA -3'
(R):5'- GTCCTTCCACCCTAGAAACTTCC -3'
Sequencing Primer
(F):5'- GTTCTAGAGCACTAAATTGCCTGG -3'
(R):5'- GAAACTTCCACAGTGTCCTGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation