Incidental Mutation 'R0837:Mto1'
| ID |
77999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mto1
|
| Ensembl Gene |
ENSMUSG00000032342 |
| Gene Name |
mitochondrial tRNA translation optimization 1 |
| Synonyms |
5730419A02Rik, 2310039H01Rik |
| MMRRC Submission |
039016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R0837 (G1)
|
| Quality Score |
187 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
78355372-78381447 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78381072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 639
(I639F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034896]
[ENSMUST00000042235]
[ENSMUST00000148238]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034896
AA Change: I639F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342
AA Change: I639F
| 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 |
unknown
Transcript: ENSMUST00000133002
AA Change: I58F
|
| SMART Domains |
Protein: ENSMUSP00000123414
Gene: ENSMUSG00000032342
AA Change: I58F
| 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 |
0.5378 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
C |
14: 60,333,375 (GRCm39) |
|
probably benign |
Het |
| 4930579C12Rik |
A |
G |
9: 89,050,260 (GRCm39) |
|
noncoding transcript |
Het |
| Adam34 |
T |
A |
8: 44,104,537 (GRCm39) |
K369N |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 110,577,697 (GRCm39) |
W481R |
probably damaging |
Het |
| Bicdl1 |
G |
A |
5: 115,869,351 (GRCm39) |
P26S |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,607,231 (GRCm39) |
C1224* |
probably null |
Het |
| Cpsf2 |
C |
T |
12: 101,963,501 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
G |
A |
15: 74,725,490 (GRCm39) |
R210W |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,877,495 (GRCm39) |
V1048I |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,077,979 (GRCm39) |
A2908S |
probably benign |
Het |
| Elane |
A |
G |
10: 79,722,942 (GRCm39) |
D116G |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,383,714 (GRCm39) |
R153C |
probably damaging |
Het |
| Gucy2c |
G |
A |
6: 136,699,418 (GRCm39) |
P617L |
probably damaging |
Het |
| H2ac21 |
G |
A |
3: 96,127,439 (GRCm39) |
A70T |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,604,058 (GRCm39) |
I106L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,823,458 (GRCm39) |
N931D |
possibly damaging |
Het |
| Mthfs |
A |
G |
9: 89,097,443 (GRCm39) |
E100G |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,378,077 (GRCm39) |
E177G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,367,251 (GRCm39) |
M282L |
probably benign |
Het |
| Or10aa1 |
A |
G |
1: 173,870,053 (GRCm39) |
D179G |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,903,425 (GRCm39) |
|
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,898,321 (GRCm39) |
M64L |
probably benign |
Het |
| Prnp |
A |
T |
2: 131,778,444 (GRCm39) |
N32I |
probably damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,287,174 (GRCm39) |
V406I |
probably benign |
Het |
| Rab40c |
G |
A |
17: 26,103,667 (GRCm39) |
T151I |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,304,495 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,415,815 (GRCm39) |
V10A |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,711,036 (GRCm39) |
N70S |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,766,326 (GRCm39) |
C483* |
probably null |
Het |
| Sema4a |
T |
A |
3: 88,360,405 (GRCm39) |
Q58L |
possibly damaging |
Het |
| Slf1 |
T |
C |
13: 77,249,067 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
G |
T |
3: 102,822,561 (GRCm39) |
N364K |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,545,482 (GRCm39) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,417,141 (GRCm39) |
T537A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,753,596 (GRCm39) |
I573T |
possibly damaging |
Het |
| Ugt2b38 |
G |
A |
5: 87,559,632 (GRCm39) |
T420I |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,937,411 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,688,103 (GRCm39) |
C2367Y |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,521,366 (GRCm39) |
G135C |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,014,189 (GRCm39) |
Y327C |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
| Zfp804a |
A |
C |
2: 82,089,506 (GRCm39) |
T1112P |
probably damaging |
Het |
| Zfr2 |
A |
G |
10: 81,081,242 (GRCm39) |
K431E |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 725,850 (GRCm39) |
Y638* |
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 |
|
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'- CTTGTTTTGTTGAGACATGGTTTCCCAC -3'
(R):5'- GCCCTAAGCCCTCACTCTAAGTCC -3'
Sequencing Primer
(F):5'- gtgggagactgaaatgaggg -3'
(R):5'- CCTCACTCTAAGTCCTCTATGAAATG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation