Incidental Mutation 'R0058:Mtif3'
ID 17096
Institutional Source Beutler Lab
Gene Symbol Mtif3
Ensembl Gene ENSMUSG00000016510
Gene Name mitochondrial translational initiation factor 3
Synonyms 2810012L14Rik
MMRRC Submission 038352-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0058 (G1)
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 146888383-146900610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 146893731 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CZD5
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 0.0898 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: 81,330,791 (GRCm39) V6088A possibly damaging Het
Ankrd36 A G 11: 5,580,691 (GRCm39) probably benign Het
Anxa1 A T 19: 20,361,141 (GRCm39) Y84N probably damaging Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Avpr1b A G 1: 131,527,524 (GRCm39) T16A probably benign Het
Cables1 A G 18: 12,056,470 (GRCm39) E316G possibly damaging Het
Cadm1 A T 9: 47,761,629 (GRCm39) I427L probably damaging Het
Dazap1 T C 10: 80,097,415 (GRCm39) probably benign Het
Dip2b A G 15: 100,113,121 (GRCm39) E1512G probably benign Het
Dock1 G A 7: 134,710,490 (GRCm39) V1171M possibly damaging Het
Dock5 A T 14: 68,018,485 (GRCm39) F1230Y probably benign Het
Dst T C 1: 34,045,305 (GRCm39) S13P possibly damaging Het
Dym G A 18: 75,176,243 (GRCm39) E15K possibly damaging Het
Faf1 A G 4: 109,593,821 (GRCm39) Q133R probably benign Het
Fcer2a T C 8: 3,738,111 (GRCm39) probably benign Het
Fmo2 A T 1: 162,713,893 (GRCm39) S204R probably benign Het
Ghitm A G 14: 36,853,549 (GRCm39) L97P probably damaging Het
Gins4 A G 8: 23,719,526 (GRCm39) probably benign Het
Gm10573 G A 4: 121,754,005 (GRCm39) Het
Golga3 T A 5: 110,350,643 (GRCm39) F766Y possibly damaging Het
Hapln1 T C 13: 89,755,997 (GRCm39) I267T probably benign Het
Helz A T 11: 107,563,384 (GRCm39) probably benign Het
Igll1 A T 16: 16,681,740 (GRCm39) V5E probably benign Het
Kif16b A G 2: 142,699,225 (GRCm39) probably null Het
Limk1 A T 5: 134,688,725 (GRCm39) W507R probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Ncoa7 T A 10: 30,523,537 (GRCm39) D887V probably damaging Het
Pkd1 G C 17: 24,783,677 (GRCm39) A162P probably benign Het
Plce1 A G 19: 38,513,628 (GRCm39) D309G possibly damaging Het
Plk4 T C 3: 40,760,307 (GRCm39) V401A probably benign Het
Prrc2c C T 1: 162,526,453 (GRCm39) V253I unknown Het
Ranbp2 T A 10: 58,316,353 (GRCm39) S2358T probably damaging Het
Setd2 T A 9: 110,423,494 (GRCm39) V2183E probably damaging Het
Sgsm1 T A 5: 113,432,953 (GRCm39) S232C probably damaging Het
Skint6 A T 4: 112,904,012 (GRCm39) probably benign Het
Slc15a2 A G 16: 36,574,909 (GRCm39) I531T probably benign Het
Slc36a1 C T 11: 55,112,820 (GRCm39) probably benign Het
Sptan1 T C 2: 29,883,708 (GRCm39) probably null Het
Tex15 C T 8: 34,071,530 (GRCm39) probably benign Het
Tlr9 T G 9: 106,102,164 (GRCm39) L485R possibly damaging Het
Tmem207 A G 16: 26,343,579 (GRCm39) probably benign Het
Triml2 T C 8: 43,638,306 (GRCm39) probably benign Het
Tspear T C 10: 77,705,465 (GRCm39) F288L probably benign Het
Zfp644 A T 5: 106,784,869 (GRCm39) S559R possibly damaging Het
Other mutations in Mtif3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Mtif3 APN 5 146,895,914 (GRCm39) nonsense probably null
IGL01073:Mtif3 APN 5 146,895,790 (GRCm39) missense probably damaging 1.00
hillary UTSW 5 146,892,488 (GRCm39) missense possibly damaging 0.81
R0058:Mtif3 UTSW 5 146,893,731 (GRCm39) missense probably benign 0.05
R4021:Mtif3 UTSW 5 146,892,488 (GRCm39) missense possibly damaging 0.81
R4994:Mtif3 UTSW 5 146,893,598 (GRCm39) missense probably benign 0.01
R7580:Mtif3 UTSW 5 146,895,757 (GRCm39) missense possibly damaging 0.63
R8020:Mtif3 UTSW 5 146,895,713 (GRCm39) missense probably damaging 1.00
R8166:Mtif3 UTSW 5 146,896,052 (GRCm39) missense probably benign 0.00
R8978:Mtif3 UTSW 5 146,895,846 (GRCm39) missense probably benign 0.00
Posted On 2013-01-20