Incidental Mutation 'R6542:Mto1'
| ID |
520854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mto1
|
| Ensembl Gene |
ENSMUSG00000032342 |
| Gene Name |
mitochondrial tRNA translation optimization 1 |
| Synonyms |
5730419A02Rik, 2310039H01Rik |
| MMRRC Submission |
044668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R6542 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
78355372-78381447 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78364510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 281
(C281S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034896]
[ENSMUST00000148238]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034896
AA Change: C281S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342
AA Change: C281S
| 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
AA Change: M184K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121424
Gene: ENSMUSG00000032342
AA Change: M184K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,030,902 (GRCm39) |
L566Q |
probably damaging |
Het |
| Apbb1ip |
C |
T |
2: 22,764,972 (GRCm39) |
T551I |
probably benign |
Het |
| Aqp5 |
A |
G |
15: 99,492,143 (GRCm39) |
E247G |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,571,352 (GRCm39) |
F306S |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,465,021 (GRCm39) |
V71I |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,577,994 (GRCm39) |
D36G |
probably damaging |
Het |
| Ctbp1 |
A |
G |
5: 33,426,915 (GRCm39) |
|
probably benign |
Het |
| Dync1li2 |
C |
T |
8: 105,169,396 (GRCm39) |
G13D |
probably benign |
Het |
| F5 |
T |
C |
1: 164,022,037 (GRCm39) |
V1504A |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,144,203 (GRCm39) |
L555P |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,802,853 (GRCm39) |
S152T |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,639 (GRCm39) |
H210Q |
possibly damaging |
Het |
| Hbs1l |
A |
G |
10: 21,180,516 (GRCm39) |
N66S |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,435 (GRCm39) |
M20K |
probably benign |
Het |
| Isoc2b |
T |
C |
7: 4,854,454 (GRCm39) |
K26E |
probably damaging |
Het |
| Katnal1 |
C |
T |
5: 148,813,016 (GRCm39) |
A467T |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,025,147 (GRCm39) |
T292A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Mcur1 |
A |
T |
13: 43,705,134 (GRCm39) |
V174D |
probably damaging |
Het |
| Metrnl |
A |
C |
11: 121,593,704 (GRCm39) |
|
probably null |
Het |
| Midn |
A |
G |
10: 79,992,418 (GRCm39) |
D490G |
probably damaging |
Het |
| Mmp10 |
G |
A |
9: 7,506,513 (GRCm39) |
A330T |
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,999,108 (GRCm38) |
I1036V |
probably benign |
Het |
| Odad1 |
G |
T |
7: 45,597,814 (GRCm39) |
A575S |
probably benign |
Het |
| Or13c7c |
A |
C |
4: 43,835,686 (GRCm39) |
L268R |
probably benign |
Het |
| Or1ab2 |
T |
C |
8: 72,863,715 (GRCm39) |
F102L |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,739,677 (GRCm39) |
T172A |
probably damaging |
Het |
| Or8b48 |
C |
A |
9: 38,450,733 (GRCm39) |
L181I |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,885,339 (GRCm39) |
I1473L |
unknown |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,642 (GRCm39) |
Y212C |
probably damaging |
Het |
| Pilra |
G |
T |
5: 137,820,237 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,655,927 (GRCm39) |
I202T |
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,671,586 (GRCm39) |
E432D |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,194,851 (GRCm39) |
D298G |
possibly damaging |
Het |
| Prr22 |
T |
A |
17: 57,077,527 (GRCm39) |
|
probably null |
Het |
| Septin2 |
T |
A |
1: 93,425,188 (GRCm39) |
|
probably null |
Het |
| Setdb1 |
C |
A |
3: 95,247,618 (GRCm39) |
V426L |
probably damaging |
Het |
| Slc8b1 |
C |
T |
5: 120,667,582 (GRCm39) |
A405V |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,068,237 (GRCm39) |
R279* |
probably null |
Het |
| Ssh2 |
C |
G |
11: 77,340,976 (GRCm39) |
D709E |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,724,389 (GRCm39) |
D373G |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,903,477 (GRCm39) |
L921S |
probably benign |
Het |
| Ubqln3 |
T |
C |
7: 103,790,824 (GRCm39) |
N422S |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,448,803 (GRCm39) |
V125I |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,060,413 (GRCm39) |
Y390* |
probably null |
Het |
| Zcwpw1 |
T |
C |
5: 137,810,282 (GRCm39) |
F353L |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,023,433 (GRCm39) |
C987Y |
probably damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,508 (GRCm39) |
S320G |
probably damaging |
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 |
|
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 |
|
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'- TCAGTAAAGGAGCAATGGCC -3'
(R):5'- TGCAGACGATTTGGAAAACG -3'
Sequencing Primer
(F):5'- TCTCGGCAGTCAGTCAGTAAAG -3'
(R):5'- ACCTTTGATTCAATAGAGGGACAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation