Incidental Mutation 'R0058:Mtif3'
ID17096
Institutional Source Beutler Lab
Gene Symbol Mtif3
Ensembl Gene ENSMUSG00000016510
Gene Namemitochondrial translational initiation factor 3
Synonyms2810012L14Rik
MMRRC Submission 038352-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #R0058 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location146951573-146963800 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 146956921 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 159 (V159F)
Ref Sequence ENSEMBL: ENSMUSP00000106195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016654] [ENSMUST00000066675] [ENSMUST00000110564] [ENSMUST00000110566] [ENSMUST00000125217] [ENSMUST00000132102] [ENSMUST00000140526] [ENSMUST00000146511]
Predicted Effect probably benign
Transcript: ENSMUST00000016654
AA Change: V159F

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000016654
Gene: ENSMUSG00000016510
AA Change: V159F

DomainStartEndE-ValueType
Pfam:IF3_N 70 144 5e-16 PFAM
Pfam:IF3_C 152 240 1.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066675
AA Change: V159F

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000063398
Gene: ENSMUSG00000016510
AA Change: V159F

DomainStartEndE-ValueType
Pfam:IF3_N 73 144 2.1e-13 PFAM
Pfam:IF3_C 153 238 2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110564
AA Change: V159F

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106193
Gene: ENSMUSG00000016510
AA Change: V159F

DomainStartEndE-ValueType
Pfam:IF3_N 70 144 5e-16 PFAM
Pfam:IF3_C 152 240 1.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110566
AA Change: V159F

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106195
Gene: ENSMUSG00000016510
AA Change: V159F

DomainStartEndE-ValueType
Pfam:IF3_N 70 144 5e-16 PFAM
Pfam:IF3_C 152 240 1.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125217
SMART Domains Protein: ENSMUSP00000120283
Gene: ENSMUSG00000016510

DomainStartEndE-ValueType
Pfam:IF3_N 70 113 1.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132102
SMART Domains Protein: ENSMUSP00000115824
Gene: ENSMUSG00000016503

DomainStartEndE-ValueType
ZnF_C2H2 38 62 1.86e0 SMART
ZnF_C2H2 68 92 6.32e-3 SMART
ZnF_C2H2 98 123 1.38e-3 SMART
ZnF_C2H2 130 154 1.33e-1 SMART
ZnF_C2H2 160 184 1.45e-2 SMART
ZnF_C2H2 187 211 8.09e-1 SMART
ZnF_C2H2 215 237 5.99e-4 SMART
ZnF_C2H2 244 269 3.63e-3 SMART
ZnF_C2H2 275 299 2.09e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133682
Predicted Effect probably benign
Transcript: ENSMUST00000140526
SMART Domains Protein: ENSMUSP00000120064
Gene: ENSMUSG00000016510

DomainStartEndE-ValueType
Pfam:IF3_N 70 109 6.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146511
SMART Domains Protein: ENSMUSP00000119607
Gene: ENSMUSG00000016503

DomainStartEndE-ValueType
ZnF_C2H2 38 62 1.86e0 SMART
ZnF_C2H2 68 92 6.32e-3 SMART
ZnF_C2H2 98 123 1.38e-3 SMART
ZnF_C2H2 130 154 1.33e-1 SMART
ZnF_C2H2 160 184 1.45e-2 SMART
ZnF_C2H2 187 211 8.09e-1 SMART
ZnF_C2H2 215 237 5.99e-4 SMART
ZnF_C2H2 244 269 3.63e-3 SMART
ZnF_C2H2 275 299 2.09e-3 SMART
low complexity region 338 361 N/A INTRINSIC
Meta Mutation Damage Score 0.1432 question?
Coding Region Coverage
  • 1x: 87.4%
  • 3x: 82.9%
  • 10x: 66.9%
  • 20x: 41.4%
Validation Efficiency 85% (62/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,182,672 V6088A possibly damaging Het
Ankrd36 A G 11: 5,630,691 probably benign Het
Anxa1 A T 19: 20,383,777 Y84N probably damaging Het
Arnt2 G A 7: 84,347,530 R63C probably damaging Het
Avpr1b A G 1: 131,599,786 T16A probably benign Het
Cables1 A G 18: 11,923,413 E316G possibly damaging Het
Cadm1 A T 9: 47,850,331 I427L probably damaging Het
Dazap1 T C 10: 80,261,581 probably benign Het
Dip2b A G 15: 100,215,240 E1512G probably benign Het
Dock1 G A 7: 135,108,761 V1171M possibly damaging Het
Dock5 A T 14: 67,781,036 F1230Y probably benign Het
Dst T C 1: 34,006,224 S13P possibly damaging Het
Dym G A 18: 75,043,172 E15K possibly damaging Het
Faf1 A G 4: 109,736,624 Q133R probably benign Het
Fcer2a T C 8: 3,688,111 probably benign Het
Fmo2 A T 1: 162,886,324 S204R probably benign Het
Ghitm A G 14: 37,131,592 L97P probably damaging Het
Gins4 A G 8: 23,229,510 probably benign Het
Gm10573 G A 4: 121,920,736 Het
Golga3 T A 5: 110,202,777 F766Y possibly damaging Het
Hapln1 T C 13: 89,607,878 I267T probably benign Het
Helz A T 11: 107,672,558 probably benign Het
Igll1 A T 16: 16,863,876 V5E probably benign Het
Kif16b A G 2: 142,857,305 probably null Het
Limk1 A T 5: 134,659,871 W507R probably damaging Het
Marf1 C T 16: 14,142,534 A549T probably damaging Het
Ncoa7 T A 10: 30,647,541 D887V probably damaging Het
Pkd1 G C 17: 24,564,703 A162P probably benign Het
Plce1 A G 19: 38,525,184 D309G possibly damaging Het
Plk4 T C 3: 40,805,872 V401A probably benign Het
Prrc2c C T 1: 162,698,884 V253I unknown Het
Ranbp2 T A 10: 58,480,531 S2358T probably damaging Het
Setd2 T A 9: 110,594,426 V2183E probably damaging Het
Sgsm1 T A 5: 113,285,087 S232C probably damaging Het
Skint6 A T 4: 113,046,815 probably benign Het
Slc15a2 A G 16: 36,754,547 I531T probably benign Het
Slc36a1 C T 11: 55,221,994 probably benign Het
Sptan1 T C 2: 29,993,696 probably null Het
Tex15 C T 8: 33,581,502 probably benign Het
Tlr9 T G 9: 106,224,965 L485R possibly damaging Het
Tmem207 A G 16: 26,524,829 probably benign Het
Triml2 T C 8: 43,185,269 probably benign Het
Tspear T C 10: 77,869,631 F288L probably benign Het
Zfp644 A T 5: 106,637,003 S559R possibly damaging Het
Other mutations in Mtif3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Mtif3 APN 5 146959104 nonsense probably null
IGL01073:Mtif3 APN 5 146958980 missense probably damaging 1.00
hillary UTSW 5 146955678 missense possibly damaging 0.81
R0058:Mtif3 UTSW 5 146956921 missense probably benign 0.05
R4021:Mtif3 UTSW 5 146955678 missense possibly damaging 0.81
R4994:Mtif3 UTSW 5 146956788 missense probably benign 0.01
Posted On2013-01-20