Incidental Mutation 'R6336:Mto1'
| ID |
510764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mto1
|
| Ensembl Gene |
ENSMUSG00000032342 |
| Gene Name |
mitochondrial tRNA translation optimization 1 |
| Synonyms |
5730419A02Rik, 2310039H01Rik |
| MMRRC Submission |
044490-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R6336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
78355372-78381447 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78381117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 73
(I73F)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034896]
[ENSMUST00000042235]
[ENSMUST00000148238]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034896
AA Change: I654F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342
AA Change: I654F
| 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: ENSMUST00000042235
|
| SMART Domains |
Protein: ENSMUSP00000042457
Gene: ENSMUSG00000037742
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
5 |
238 |
3.4e-55 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
260 |
327 |
6.3e-16 |
PFAM |
|
Pfam:GTP_EFTU_D3
|
333 |
442 |
5e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129380
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133002
AA Change: I73F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123414
Gene: ENSMUSG00000032342
AA Change: I73F
| 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 |
0.1205 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (45/46) |
| 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 |
|---|
| 2900026A02Rik |
G |
T |
5: 113,331,349 (GRCm39) |
P955Q |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,534,100 (GRCm39) |
N5827S |
probably benign |
Het |
| Akt3 |
T |
C |
1: 176,859,278 (GRCm39) |
D431G |
probably damaging |
Het |
| Anapc16 |
A |
T |
10: 59,824,651 (GRCm39) |
V76D |
possibly damaging |
Het |
| Ankib1 |
A |
T |
5: 3,750,377 (GRCm39) |
Y755* |
probably null |
Het |
| Ankrd6 |
A |
G |
4: 32,860,411 (GRCm39) |
S11P |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,128,646 (GRCm39) |
K917* |
probably null |
Het |
| Ccdc152 |
T |
C |
15: 3,330,611 (GRCm39) |
I21M |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,819 (GRCm39) |
E207G |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,512,239 (GRCm39) |
A499E |
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,286,394 (GRCm39) |
A383V |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,509,027 (GRCm39) |
V89A |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,121,851 (GRCm39) |
176 |
probably null |
Het |
| Dlgap1 |
T |
A |
17: 71,122,284 (GRCm39) |
D904E |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,370,347 (GRCm39) |
L849H |
probably damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,728,545 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
C |
A |
15: 58,431,081 (GRCm39) |
Y245* |
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,839,964 (GRCm39) |
Y109H |
probably damaging |
Het |
| Gabarapl1 |
A |
G |
6: 129,514,491 (GRCm39) |
D43G |
probably benign |
Het |
| Gabrb1 |
A |
C |
5: 72,187,241 (GRCm39) |
E178A |
possibly damaging |
Het |
| Gbp11 |
A |
G |
5: 105,473,355 (GRCm39) |
|
|
Het |
| Grin3b |
C |
A |
10: 79,812,295 (GRCm39) |
A845E |
probably damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,705 (GRCm39) |
Y28C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,237,760 (GRCm39) |
T807M |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,778,767 (GRCm39) |
|
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,375,939 (GRCm39) |
T565K |
probably damaging |
Het |
| Map7d1 |
A |
G |
4: 126,130,475 (GRCm39) |
S412P |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,800,558 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
G |
A |
8: 111,458,796 (GRCm39) |
D310N |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,709,821 (GRCm39) |
Y393H |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,459 (GRCm39) |
C112S |
probably damaging |
Het |
| Or2f1b |
T |
C |
6: 42,739,591 (GRCm39) |
S202P |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,405,369 (GRCm39) |
K301N |
probably damaging |
Het |
| Or4f47 |
A |
C |
2: 111,972,751 (GRCm39) |
I154L |
probably benign |
Het |
| Or4k49 |
A |
G |
2: 111,494,964 (GRCm39) |
H131R |
possibly damaging |
Het |
| Or52z1 |
T |
C |
7: 103,437,452 (GRCm39) |
T11A |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,952 (GRCm39) |
|
probably benign |
Het |
| Potefam3f |
A |
G |
8: 20,499,951 (GRCm39) |
K242E |
unknown |
Het |
| Rnf17 |
A |
G |
14: 56,658,626 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
T |
C |
13: 33,378,677 (GRCm39) |
M41T |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,834,384 (GRCm39) |
|
probably null |
Het |
| Slc22a6 |
G |
A |
19: 8,599,494 (GRCm39) |
R331H |
probably benign |
Het |
| Spg11 |
G |
C |
2: 121,943,440 (GRCm39) |
|
probably null |
Het |
| Src |
T |
A |
2: 157,299,075 (GRCm39) |
V24E |
probably benign |
Het |
| Srgap1 |
A |
T |
10: 121,761,846 (GRCm39) |
Y101N |
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,307 (GRCm39) |
T110S |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,361,646 (GRCm39) |
E119G |
possibly damaging |
Het |
| Whamm |
T |
A |
7: 81,241,512 (GRCm39) |
D274E |
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 |
|
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'- GTCATAAGTCATGTCTCATTTCCCT -3'
(R):5'- GCTTGAGACTCCCACAGGG -3'
Sequencing Primer
(F):5'- GGAGGATCTCTTTACTTAGCCCAAG -3'
(R):5'- AAATAATTGTGTGTTTGGGGCTCACC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation