Incidental Mutation 'R3078:Mto1'
ID |
265296 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mto1
|
Ensembl Gene |
ENSMUSG00000032342 |
Gene Name |
mitochondrial tRNA translation optimization 1 |
Synonyms |
5730419A02Rik, 2310039H01Rik |
MMRRC Submission |
040568-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R3078 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
78355372-78381447 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78365310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 413
(Y413C)
|
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: Y413C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034896 Gene: ENSMUSG00000032342 AA Change: Y413C
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 |
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 |
|
Meta Mutation Damage Score |
0.9708 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
93% (42/45) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
Actr3b |
A |
G |
5: 26,027,440 (GRCm39) |
Y37C |
probably damaging |
Het |
Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
Alg10b |
T |
C |
15: 90,112,139 (GRCm39) |
S328P |
probably benign |
Het |
C5ar2 |
G |
A |
7: 15,971,349 (GRCm39) |
R193C |
probably damaging |
Het |
Cct8 |
A |
G |
16: 87,285,765 (GRCm39) |
V231A |
possibly damaging |
Het |
Clca4a |
C |
T |
3: 144,674,014 (GRCm39) |
M240I |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,185,435 (GRCm39) |
I3520N |
probably damaging |
Het |
Dock6 |
G |
T |
9: 21,757,050 (GRCm39) |
|
probably benign |
Het |
Dynlrb1 |
T |
A |
2: 155,091,865 (GRCm39) |
I99N |
probably damaging |
Het |
Ebf4 |
G |
A |
2: 130,148,419 (GRCm39) |
D77N |
probably damaging |
Het |
Fbxw10 |
C |
T |
11: 62,758,339 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
T |
C |
2: 98,494,197 (GRCm39) |
I113T |
probably damaging |
Het |
Gm5499 |
T |
C |
17: 87,386,314 (GRCm39) |
|
noncoding transcript |
Het |
Gm9913 |
A |
G |
2: 125,348,459 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,786,991 (GRCm39) |
N1612S |
probably benign |
Het |
Ifnar2 |
T |
C |
16: 91,182,889 (GRCm39) |
S53P |
possibly damaging |
Het |
Inpp5j |
T |
A |
11: 3,453,124 (GRCm39) |
|
probably null |
Het |
Insyn2a |
A |
G |
7: 134,519,750 (GRCm39) |
I260T |
probably benign |
Het |
Iqca1l |
G |
C |
5: 24,751,664 (GRCm39) |
T528S |
probably benign |
Het |
Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
Med28 |
A |
G |
5: 45,679,820 (GRCm39) |
T68A |
possibly damaging |
Het |
Meis1 |
A |
T |
11: 18,961,254 (GRCm39) |
N206K |
probably benign |
Het |
Mfsd14a |
T |
C |
3: 116,441,566 (GRCm39) |
|
probably benign |
Het |
Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
Myo7b |
T |
C |
18: 32,100,237 (GRCm39) |
D1599G |
probably benign |
Het |
Myoz1 |
T |
C |
14: 20,703,685 (GRCm39) |
|
probably benign |
Het |
Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
Npr2 |
T |
A |
4: 43,640,182 (GRCm39) |
Y306N |
probably damaging |
Het |
Nrxn3 |
T |
G |
12: 89,227,186 (GRCm39) |
C274G |
probably damaging |
Het |
Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
Or5ac22 |
A |
T |
16: 59,135,089 (GRCm39) |
M227K |
probably benign |
Het |
Phldb2 |
T |
C |
16: 45,645,373 (GRCm39) |
T403A |
probably benign |
Het |
Plaa |
T |
C |
4: 94,458,042 (GRCm39) |
I643V |
probably benign |
Het |
Slc28a2b |
T |
C |
2: 122,344,895 (GRCm39) |
L167P |
possibly damaging |
Het |
Stau1 |
T |
C |
2: 166,796,936 (GRCm39) |
I154V |
possibly damaging |
Het |
Ugcg |
T |
G |
4: 59,213,922 (GRCm39) |
V168G |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,042,053 (GRCm39) |
I221V |
probably benign |
Het |
Wdr93 |
T |
C |
7: 79,402,241 (GRCm39) |
I180T |
possibly damaging |
Het |
Whamm |
G |
C |
7: 81,221,532 (GRCm39) |
G155R |
probably damaging |
Het |
Wnt5a |
T |
A |
14: 28,235,140 (GRCm39) |
Y41* |
probably null |
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 |
78,378,072 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GCATCCATCCATCTGCTGTG -3'
(R):5'- AATCAACTCTTAGCTGGAACTGG -3'
Sequencing Primer
(F):5'- ATCCATCTGCTGTGCTCTGATG -3'
(R):5'- AACTGGGTGGGCCTGATG -3'
|
Posted On |
2015-02-05 |