Incidental Mutation 'R6641:Mtg2'
| ID |
525773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtg2
|
| Ensembl Gene |
ENSMUSG00000039069 |
| Gene Name |
mitochondrial ribosome associated GTPase 2 |
| Synonyms |
D2Bwg0647e, 2900056P18Rik, 1810011P19Rik, Gtpbp5 |
| MMRRC Submission |
044762-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6641 (G1)
|
| Quality Score |
185.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
179712381-179727695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 179727301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 318
(T318A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087563]
[ENSMUST00000108901]
[ENSMUST00000184862]
|
| AlphaFold |
A2AFK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087563
AA Change: T318A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000084843
Gene: ENSMUSG00000039069
AA Change: T318A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP1_OBG
|
71 |
222 |
5.1e-43 |
PFAM |
|
Pfam:FeoB_N
|
224 |
384 |
1.8e-11 |
PFAM |
|
Pfam:MMR_HSR1
|
225 |
345 |
7.9e-22 |
PFAM |
|
Pfam:Miro
|
225 |
347 |
1.5e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108901
AA Change: T318A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104529
Gene: ENSMUSG00000039069
AA Change: T318A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP1_OBG
|
71 |
222 |
1.5e-49 |
PFAM |
|
Pfam:FeoB_N
|
224 |
384 |
8.3e-12 |
PFAM |
|
Pfam:MMR_HSR1
|
225 |
345 |
3.6e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147264
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184862
|
| SMART Domains |
Protein: ENSMUSP00000139273
Gene: ENSMUSG00000039069
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP1_OBG
|
71 |
222 |
2e-43 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
C |
T |
16: 88,555,974 (GRCm39) |
P63S |
unknown |
Het |
| Aadac |
T |
C |
3: 59,947,153 (GRCm39) |
S284P |
probably damaging |
Het |
| Casp12 |
G |
A |
9: 5,354,612 (GRCm39) |
C257Y |
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,296,240 (GRCm39) |
I361F |
possibly damaging |
Het |
| Cubn |
A |
C |
2: 13,480,875 (GRCm39) |
S327A |
probably damaging |
Het |
| Desi2 |
A |
T |
1: 178,071,943 (GRCm39) |
E82D |
possibly damaging |
Het |
| Dym |
T |
A |
18: 75,189,712 (GRCm39) |
I100N |
probably damaging |
Het |
| Gm14418 |
G |
T |
2: 177,079,623 (GRCm39) |
T124K |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,870,164 (GRCm39) |
I701N |
probably damaging |
Het |
| Gm3404 |
C |
A |
5: 146,464,518 (GRCm39) |
A173D |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,660,721 (GRCm39) |
L738Q |
probably damaging |
Het |
| Klk10 |
G |
T |
7: 43,434,324 (GRCm39) |
D239Y |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,132 (GRCm39) |
|
probably benign |
Het |
| Lepr |
T |
A |
4: 101,622,502 (GRCm39) |
D427E |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,702,287 (GRCm39) |
R177W |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,219,737 (GRCm39) |
V1044A |
probably benign |
Het |
| Nrsn2 |
A |
G |
2: 152,211,830 (GRCm39) |
V67A |
probably benign |
Het |
| Or2b11 |
T |
C |
11: 59,461,666 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,850 (GRCm39) |
E444G |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,322,762 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,460 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
T |
G |
2: 53,031,638 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,134,132 (GRCm39) |
Y2599D |
probably damaging |
Het |
| Septin11 |
T |
A |
5: 93,287,411 (GRCm39) |
I42N |
probably damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,783,022 (GRCm39) |
A216V |
possibly damaging |
Het |
| Slc33a1 |
T |
A |
3: 63,861,327 (GRCm39) |
T292S |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,837,378 (GRCm39) |
K56R |
probably benign |
Het |
| Slc7a13 |
G |
A |
4: 19,839,534 (GRCm39) |
G379E |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,245 (GRCm39) |
I193V |
possibly damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,383 (GRCm39) |
E593G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,626,059 (GRCm39) |
M1169K |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
A |
G |
9: 121,498,631 (GRCm39) |
*460W |
probably null |
Het |
| Zbtb18 |
T |
A |
1: 177,275,609 (GRCm39) |
L323Q |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,641,270 (GRCm39) |
S129P |
probably benign |
Het |
|
| Other mutations in Mtg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01360:Mtg2
|
APN |
2 |
179,725,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Mtg2
|
UTSW |
2 |
179,725,221 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2156:Mtg2
|
UTSW |
2 |
179,725,923 (GRCm39) |
nonsense |
probably null |
|
|
R3428:Mtg2
|
UTSW |
2 |
179,726,065 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5032:Mtg2
|
UTSW |
2 |
179,725,183 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7288:Mtg2
|
UTSW |
2 |
179,725,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Mtg2
|
UTSW |
2 |
179,727,368 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTAGAACATGAGATCTGGGCC -3'
(R):5'- ATCATGCAGCTCCTTCAGG -3'
Sequencing Primer
(F):5'- AGTCTCCTGACCGCAATTGG -3'
(R):5'- CTCCTTCAGGTGCAGAAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation