Incidental Mutation 'R1679:Mto1'
ID 188356
Institutional Source Beutler Lab
Gene Symbol Mto1
Ensembl Gene ENSMUSG00000032342
Gene Name mitochondrial tRNA translation optimization 1
Synonyms 5730419A02Rik, 2310039H01Rik
MMRRC Submission 039715-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R1679 (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 78372245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 572 (T572A)
Ref Sequence ENSEMBL: ENSMUSP00000034896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034896] [ENSMUST00000148238]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034896
AA Change: T572A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342
AA Change: T572A

DomainStartEndE-ValueType
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: ENSMUST00000133002
SMART Domains Protein: ENSMUSP00000123414
Gene: ENSMUSG00000032342

DomainStartEndE-ValueType
GIDA_assoc_3 5 78 8.31e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148238
SMART Domains Protein: ENSMUSP00000121424
Gene: ENSMUSG00000032342

DomainStartEndE-ValueType
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 0.0809 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (51/52)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Adam6a A G 12: 113,508,376 (GRCm39) M250V probably benign Het
Adgre5 C A 8: 84,456,034 (GRCm39) R254L probably benign Het
Adgrv1 A T 13: 81,707,671 (GRCm39) L525Q probably damaging Het
Ano9 T A 7: 140,688,210 (GRCm39) I205F probably benign Het
Bmp5 T C 9: 75,746,877 (GRCm39) V245A probably benign Het
Capn8 T C 1: 182,441,032 (GRCm39) S489P probably damaging Het
Ccdc85a A G 11: 28,533,316 (GRCm39) L76P probably damaging Het
Cd164l2 A G 4: 132,948,810 (GRCm39) T49A probably benign Het
Cdc25c T C 18: 34,880,348 (GRCm39) T129A probably damaging Het
Cfap43 T C 19: 47,761,553 (GRCm39) D847G probably benign Het
Crim1 G A 17: 78,508,228 (GRCm39) A11T probably benign Het
Cul9 A T 17: 46,832,082 (GRCm39) L1449H possibly damaging Het
Cyp2a22 T A 7: 26,635,736 (GRCm39) K276* probably null Het
Cyp2c50 C A 19: 40,099,859 (GRCm39) T430K possibly damaging Het
Ddb2 C T 2: 91,064,595 (GRCm39) R105Q probably benign Het
Emilin1 T C 5: 31,077,543 (GRCm39) Y900H probably benign Het
Eml3 T C 19: 8,914,001 (GRCm39) F100L probably damaging Het
Eps8l2 G A 7: 140,940,970 (GRCm39) G542D probably damaging Het
Fbf1 A G 11: 116,041,843 (GRCm39) probably null Het
Gm21886 T C 18: 80,132,954 (GRCm39) Y68C probably damaging Het
H2-Q10 A G 17: 35,784,492 (GRCm39) probably benign Het
Hebp2 G T 10: 18,420,163 (GRCm39) T90K possibly damaging Het
Il1rl2 A G 1: 40,382,320 (GRCm39) T211A probably benign Het
Incenp T C 19: 9,872,778 (GRCm39) D16G unknown Het
Isg20l2 T A 3: 87,839,392 (GRCm39) M201K probably damaging Het
Kansl1 A T 11: 104,314,822 (GRCm39) S405R probably damaging Het
Kdsr T A 1: 106,680,956 (GRCm39) I81F probably benign Het
Leprotl1 T G 8: 34,607,986 (GRCm39) L7F probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mtmr2 T A 9: 13,700,373 (GRCm39) I60K probably damaging Het
Nipbl G A 15: 8,332,396 (GRCm39) T2287I probably benign Het
Nutm2 A G 13: 50,623,422 (GRCm39) T40A probably benign Het
Nxf1 T C 19: 8,746,438 (GRCm39) S550P probably benign Het
Or5p4 A T 7: 107,680,859 (GRCm39) N286I probably damaging Het
Phactr1 G A 13: 43,210,756 (GRCm39) V193I possibly damaging Het
Phactr1 A T 13: 43,248,257 (GRCm39) Y317F possibly damaging Het
Pih1d1 T C 7: 44,809,250 (GRCm39) probably null Het
Rictor T C 15: 6,797,571 (GRCm39) I309T possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ruvbl2 T C 7: 45,074,391 (GRCm39) D216G probably damaging Het
Slc20a2 T G 8: 23,028,846 (GRCm39) S106A possibly damaging Het
Srprb A G 9: 103,069,406 (GRCm39) probably benign Het
Stx11 A T 10: 12,817,580 (GRCm39) I48N probably damaging Het
Vmn1r29 A T 6: 58,285,003 (GRCm39) Y241F probably damaging Het
Wdfy1 A T 1: 79,685,192 (GRCm39) C347* probably null Het
Zfp683 T C 4: 133,785,956 (GRCm39) V361A possibly damaging Het
Other mutations in Mto1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGATGCTGCTGCATTTGCTCAC -3'
(R):5'- TGTCCTCAGCCAAATTCCAGCC -3'

Sequencing Primer
(F):5'- gctgctgCATTTGCTCACTATAC -3'
(R):5'- GCGGAAGTGCCAATCTTAC -3'
Posted On 2014-05-09