Incidental Mutation 'IGL01073:Mtif3'
ID51048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtif3
Ensembl Gene ENSMUSG00000016510
Gene Namemitochondrial translational initiation factor 3
Synonyms2810012L14Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01073
Quality Score
Status
Chromosome5
Chromosomal Location146951573-146963800 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 146958980 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 99 (R99L)
Ref Sequence ENSEMBL: ENSMUSP00000120283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016654] [ENSMUST00000066675] [ENSMUST00000110564] [ENSMUST00000110566] [ENSMUST00000125217] [ENSMUST00000132102] [ENSMUST00000140526] [ENSMUST00000146511]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016654
AA Change: R99L

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000016654
Gene: ENSMUSG00000016510
AA Change: R99L

DomainStartEndE-ValueType
Pfam:IF3_N 70 144 5e-16 PFAM
Pfam:IF3_C 152 240 1.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066675
AA Change: R99L

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063398
Gene: ENSMUSG00000016510
AA Change: R99L

DomainStartEndE-ValueType
Pfam:IF3_N 73 144 2.1e-13 PFAM
Pfam:IF3_C 153 238 2e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110564
AA Change: R99L

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106193
Gene: ENSMUSG00000016510
AA Change: R99L

DomainStartEndE-ValueType
Pfam:IF3_N 70 144 5e-16 PFAM
Pfam:IF3_C 152 240 1.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110566
AA Change: R99L

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106195
Gene: ENSMUSG00000016510
AA Change: R99L

DomainStartEndE-ValueType
Pfam:IF3_N 70 144 5e-16 PFAM
Pfam:IF3_C 152 240 1.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125217
AA Change: R99L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120283
Gene: ENSMUSG00000016510
AA Change: R99L

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 damaging
Transcript: ENSMUST00000140526
AA Change: R99L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120064
Gene: ENSMUSG00000016510
AA Change: R99L

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
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 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 A G 10: 81,639,322 D110G possibly damaging Het
Ccnd3 A G 17: 47,594,845 T104A probably benign Het
Cntnap5b A T 1: 100,076,030 D245V probably benign Het
Cryab A G 9: 50,754,555 K82R probably damaging Het
Dnmt3b G A 2: 153,670,842 probably benign Het
Eif2b5 A T 16: 20,500,296 K99* probably null Het
Fam222b A G 11: 78,154,488 I292V probably damaging Het
Itpr1 A C 6: 108,413,820 N1560T probably benign Het
Lca5 T A 9: 83,395,475 K605N probably damaging Het
Letm1 T C 5: 33,748,800 D424G possibly damaging Het
Nrxn3 A G 12: 89,254,740 M430V probably benign Het
Olfr1226 A T 2: 89,193,137 L299Q possibly damaging Het
Pgap2 T A 7: 102,226,454 probably benign Het
Phf11c A T 14: 59,389,348 S129T probably benign Het
Ptpro A G 6: 137,377,088 N154S probably damaging Het
Rfng C T 11: 120,783,921 R81H probably benign Het
Rnf38 A G 4: 44,137,645 M280T probably benign Het
Rrp7a G A 15: 83,118,081 A185V probably benign Het
Slc22a2 C A 17: 12,584,349 F23L probably benign Het
Slc35f1 A G 10: 53,021,960 T156A probably benign Het
Slfn1 A T 11: 83,121,337 Y93F probably benign Het
Snrnp200 A T 2: 127,214,912 probably benign Het
Sos1 A G 17: 80,422,747 F701S probably damaging Het
Tmem203 A C 2: 25,255,724 I19L probably benign Het
Usp8 A T 2: 126,718,114 K18N probably damaging Het
Vmn2r115 G A 17: 23,345,997 R286K probably benign Het
Vmn2r23 A C 6: 123,712,800 T212P possibly damaging Het
Other mutations in Mtif3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Mtif3 APN 5 146959104 nonsense probably null
hillary UTSW 5 146955678 missense possibly damaging 0.81
R0058:Mtif3 UTSW 5 146956921 missense probably benign 0.05
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
R7580:Mtif3 UTSW 5 146958947 missense possibly damaging 0.63
R8020:Mtif3 UTSW 5 146958903 missense probably damaging 1.00
R8166:Mtif3 UTSW 5 146959242 missense probably benign 0.00
Posted On2013-06-21