Incidental Mutation 'IGL01906:Mto1'
ID179688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mto1
Ensembl Gene ENSMUSG00000032342
Gene Namemitochondrial tRNA translation optimization 1
Synonyms5730419A02Rik, 2310039H01Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #IGL01906
Quality Score
Status
Chromosome9
Chromosomal Location78448208-78475348 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78464931 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 561 (V561A)
Ref Sequence ENSEMBL: ENSMUSP00000034896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034896] [ENSMUST00000148238]
Predicted Effect probably benign
Transcript: ENSMUST00000034896
AA Change: V561A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342
AA Change: V561A

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
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,216,225 Q24L probably damaging Het
Adam1b A T 5: 121,501,475 N502K probably benign Het
Adam6a T A 12: 113,544,331 M108K probably benign Het
Akr1b10 A G 6: 34,387,811 K69R probably benign Het
Ap5b1 T A 19: 5,570,979 L809* probably null Het
Asxl3 A T 18: 22,522,281 H1116L probably benign Het
Birc6 A G 17: 74,638,358 T2794A probably damaging Het
Bst1 T C 5: 43,837,519 F248L probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cep120 A T 18: 53,714,912 V625E probably benign Het
Cgnl1 T C 9: 71,724,567 M501V probably benign Het
Col19a1 T A 1: 24,317,429 D661V probably damaging Het
Copb2 A T 9: 98,580,330 E456V probably benign Het
Csk A G 9: 57,629,021 I201T probably damaging Het
Cttnbp2 G T 6: 18,378,376 S977* probably null Het
Ddr2 A G 1: 169,982,099 W770R probably damaging Het
Dnah7b T C 1: 46,175,453 I1126T probably damaging Het
Dusp27 A C 1: 166,099,523 L840R probably damaging Het
Ephb4 A T 5: 137,361,194 E342V probably damaging Het
Erc2 T A 14: 28,141,306 L496Q probably damaging Het
Faim2 G A 15: 99,514,433 T140I probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Haus3 A C 5: 34,168,323 probably benign Het
Hmcn1 T C 1: 150,667,887 T2846A probably benign Het
Myb T C 10: 21,152,634 Y110C probably damaging Het
Olfr1280 T C 2: 111,315,901 C141R probably damaging Het
Plcd3 T C 11: 103,076,856 Y420C probably damaging Het
Plk4 G T 3: 40,810,381 M603I probably null Het
Scgb1b24 T C 7: 33,744,113 C66R probably damaging Het
Sec23a T C 12: 59,007,044 Y56C probably damaging Het
Setd1b C A 5: 123,157,667 D1099E unknown Het
Sh2d7 G A 9: 54,539,466 probably benign Het
Slc30a10 A T 1: 185,456,396 K221* probably null Het
Slc5a1 T C 5: 33,154,653 L463P probably damaging Het
Strc T C 2: 121,377,634 T419A probably benign Het
Ttc39a T C 4: 109,421,394 M82T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13b T C 15: 35,639,847 probably benign Het
Other mutations in Mto1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Mto1 APN 9 78461643 missense probably benign 0.00
IGL01362:Mto1 APN 9 78452774 missense probably benign 0.00
IGL02499:Mto1 APN 9 78461512 splice site probably benign
IGL02504:Mto1 APN 9 78460927 missense probably damaging 1.00
IGL03104:Mto1 APN 9 78449520 missense probably damaging 1.00
PIT4515001:Mto1 UTSW 9 78457417 missense probably damaging 1.00
R0089:Mto1 UTSW 9 78473872 missense probably benign
R0325:Mto1 UTSW 9 78453004 missense probably damaging 1.00
R0566:Mto1 UTSW 9 78448301 missense possibly damaging 0.66
R0659:Mto1 UTSW 9 78457508 missense probably damaging 1.00
R0659:Mto1 UTSW 9 78470790 missense probably damaging 1.00
R0837:Mto1 UTSW 9 78473790 missense probably damaging 1.00
R1679:Mto1 UTSW 9 78464963 missense probably benign
R1899:Mto1 UTSW 9 78461517 splice site probably benign
R1900:Mto1 UTSW 9 78461517 splice site probably benign
R2235:Mto1 UTSW 9 78457564 missense possibly damaging 0.58
R3078:Mto1 UTSW 9 78458028 missense probably damaging 1.00
R5015:Mto1 UTSW 9 78461621 missense probably benign 0.25
R5420:Mto1 UTSW 9 78452827 missense probably benign
R5947:Mto1 UTSW 9 78461029 missense probably damaging 1.00
R5969:Mto1 UTSW 9 78452905 missense probably damaging 1.00
R6092:Mto1 UTSW 9 78460849 missense possibly damaging 0.95
R6336:Mto1 UTSW 9 78473835 missense probably damaging 0.98
R6542:Mto1 UTSW 9 78457228 missense possibly damaging 0.94
R7092:Mto1 UTSW 9 78470673 missense probably benign 0.25
R7150:Mto1 UTSW 9 78457283 missense probably damaging 1.00
R7852:Mto1 UTSW 9 78449538 missense possibly damaging 0.82
R7935:Mto1 UTSW 9 78449538 missense possibly damaging 0.82
RF014:Mto1 UTSW 9 78448316 missense probably benign 0.00
Posted On2014-05-07