Incidental Mutation 'R0659:Mto1'
| ID |
218698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mto1
|
| Ensembl Gene |
ENSMUSG00000032342 |
| Gene Name |
mitochondrial tRNA translation optimization 1 |
| Synonyms |
5730419A02Rik, 2310039H01Rik |
| MMRRC Submission |
038844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0659 (G1)
|
| Quality Score |
72 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
78355372-78381447 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78378072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 638
(T638M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034896]
[ENSMUST00000148238]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034896
AA Change: T638M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342
AA Change: T638M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_2
|
37 |
84 |
1.3e-6 |
PFAM |
|
Pfam:FAD_oxidored
|
37 |
194 |
2.3e-9 |
PFAM |
|
Pfam:GIDA
|
37 |
435 |
3.5e-153 |
PFAM |
|
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
|
GIDA_assoc_3
|
585 |
658 |
8.31e-26 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133002
AA Change: T57M
|
| SMART Domains |
Protein: ENSMUSP00000123414
Gene: ENSMUSG00000032342
AA Change: T57M
| Domain | Start | End | E-Value | Type |
|---|
|
GIDA_assoc_3
|
5 |
78 |
8.31e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148238
|
| SMART Domains |
Protein: ENSMUSP00000121424
Gene: ENSMUSG00000032342
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_2
|
37 |
84 |
7.1e-7 |
PFAM |
|
Pfam:Pyr_redox_2
|
37 |
156 |
2.1e-7 |
PFAM |
|
Pfam:FAD_oxidored
|
37 |
178 |
1.1e-9 |
PFAM |
|
Pfam:GIDA
|
37 |
184 |
8.5e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157051
|
| Meta Mutation Damage Score |
0.7915 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.6%
|
| Validation Efficiency |
99% (72/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a hypomorphic allele show bradycardia, cardiomyopathy, worsening of arrhythmias during induction and reversal of anesthesia, and mitochondrial abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,140,565 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,992,366 (GRCm39) |
H4550R |
possibly damaging |
Het |
| Anxa6 |
A |
G |
11: 54,874,173 (GRCm39) |
V591A |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,473 (GRCm39) |
S158P |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,322,067 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,587,452 (GRCm39) |
|
probably benign |
Het |
| Cep78 |
C |
T |
19: 15,933,554 (GRCm39) |
V675M |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,871,554 (GRCm39) |
|
probably benign |
Het |
| Chpf |
A |
G |
1: 75,454,367 (GRCm39) |
V137A |
probably damaging |
Het |
| Comp |
T |
C |
8: 70,831,751 (GRCm39) |
S457P |
possibly damaging |
Het |
| Cth |
A |
G |
3: 157,625,752 (GRCm39) |
|
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,733,563 (GRCm39) |
L314P |
probably damaging |
Het |
| Ets1 |
C |
T |
9: 32,649,589 (GRCm39) |
R309C |
probably damaging |
Het |
| Foxp2 |
T |
C |
6: 15,254,278 (GRCm39) |
|
probably benign |
Het |
| Gm9875 |
T |
G |
2: 13,562,995 (GRCm39) |
F108V |
unknown |
Het |
| Golga5 |
G |
T |
12: 102,442,467 (GRCm39) |
V269F |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,730,213 (GRCm39) |
Y1738C |
probably damaging |
Het |
| Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,086,850 (GRCm39) |
V70E |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,221 (GRCm39) |
Q60R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,221,750 (GRCm39) |
T92A |
possibly damaging |
Het |
| Itpk1 |
C |
T |
12: 102,572,337 (GRCm39) |
|
probably benign |
Het |
| Lin28a |
T |
C |
4: 133,735,410 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,305,244 (GRCm39) |
S58G |
probably damaging |
Het |
| Mmp21 |
G |
A |
7: 133,279,396 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,908,193 (GRCm39) |
K2027E |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,703,545 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,256,703 (GRCm39) |
I107T |
probably damaging |
Het |
| Or5k17 |
C |
A |
16: 58,746,772 (GRCm39) |
R54L |
possibly damaging |
Het |
| Or8g37 |
T |
G |
9: 39,731,112 (GRCm39) |
M59R |
possibly damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,258,767 (GRCm39) |
S268P |
probably damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,809,399 (GRCm39) |
S289T |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 132,998,938 (GRCm39) |
D353G |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,378,368 (GRCm39) |
L609P |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,100,199 (GRCm39) |
D1901V |
probably damaging |
Het |
| Rdh9 |
T |
C |
10: 127,612,444 (GRCm39) |
Y31H |
possibly damaging |
Het |
| Slc5a9 |
T |
A |
4: 111,741,068 (GRCm39) |
Y526F |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,121 (GRCm39) |
K582E |
probably benign |
Het |
| Sult1c2 |
A |
T |
17: 54,138,806 (GRCm39) |
M257K |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,448 (GRCm39) |
D1834G |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 128,061,351 (GRCm39) |
I417T |
possibly damaging |
Het |
| Tmem229b |
T |
C |
12: 79,011,908 (GRCm39) |
T8A |
probably benign |
Het |
| Tmem237 |
T |
C |
1: 59,153,253 (GRCm39) |
I89M |
possibly damaging |
Het |
| Tnfrsf17 |
A |
T |
16: 11,137,683 (GRCm39) |
D140V |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,807,647 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
G |
15: 27,831,485 (GRCm39) |
L194P |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,605,122 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,828,217 (GRCm39) |
M1457K |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,311,258 (GRCm39) |
C479R |
possibly damaging |
Het |
| Zfp420 |
T |
A |
7: 29,574,964 (GRCm39) |
C395S |
probably damaging |
Het |
| Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
| Zfp82 |
C |
T |
7: 29,755,754 (GRCm39) |
E443K |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,247,400 (GRCm39) |
S193G |
probably benign |
Het |
|
| Other mutations in Mto1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01010:Mto1
|
APN |
9 |
78,368,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01362:Mto1
|
APN |
9 |
78,360,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01906:Mto1
|
APN |
9 |
78,372,213 (GRCm39) |
missense |
probably benign |
|
|
IGL02499:Mto1
|
APN |
9 |
78,368,794 (GRCm39) |
splice site |
probably benign |
|
|
IGL02504:Mto1
|
APN |
9 |
78,368,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03104:Mto1
|
APN |
9 |
78,356,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Mto1
|
UTSW |
9 |
78,364,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Mto1
|
UTSW |
9 |
78,381,154 (GRCm39) |
missense |
probably benign |
|
|
R0325:Mto1
|
UTSW |
9 |
78,360,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0566:Mto1
|
UTSW |
9 |
78,355,583 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0659:Mto1
|
UTSW |
9 |
78,364,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0837:Mto1
|
UTSW |
9 |
78,381,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Mto1
|
UTSW |
9 |
78,372,245 (GRCm39) |
missense |
probably benign |
|
|
R1899:Mto1
|
UTSW |
9 |
78,368,799 (GRCm39) |
splice site |
probably benign |
|
|
R1900:Mto1
|
UTSW |
9 |
78,368,799 (GRCm39) |
splice site |
probably benign |
|
|
R2235:Mto1
|
UTSW |
9 |
78,364,846 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3078:Mto1
|
UTSW |
9 |
78,365,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Mto1
|
UTSW |
9 |
78,368,903 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5420:Mto1
|
UTSW |
9 |
78,360,109 (GRCm39) |
missense |
probably benign |
|
|
R5947:Mto1
|
UTSW |
9 |
78,368,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5969:Mto1
|
UTSW |
9 |
78,360,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6092:Mto1
|
UTSW |
9 |
78,368,131 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6336:Mto1
|
UTSW |
9 |
78,381,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6542:Mto1
|
UTSW |
9 |
78,364,510 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7092:Mto1
|
UTSW |
9 |
78,377,955 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7150:Mto1
|
UTSW |
9 |
78,364,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Mto1
|
UTSW |
9 |
78,356,820 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8922:Mto1
|
UTSW |
9 |
78,377,928 (GRCm39) |
missense |
probably benign |
|
|
R9358:Mto1
|
UTSW |
9 |
78,364,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9549:Mto1
|
UTSW |
9 |
78,368,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9623:Mto1
|
UTSW |
9 |
78,364,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Mto1
|
UTSW |
9 |
78,355,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTTCTCATTTTATTCACCAGCCAGT -3'
(R):5'- GCTCAGCTTTCTCATCTCTCAGAGACA -3'
Sequencing Primer
(F):5'- TTCACCAGCCAGTTATGAGTCAG -3'
(R):5'- ccctggacctggagtcatag -3'
|
| Posted On |
2014-08-20 |
Incidental Mutation